#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_IGV	i_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	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_dbSNPPopFreq	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_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
SCNN1D	6339	broad.mit.edu	37	1	1221416	1221416	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:1221416G>A	ENST00000338555.2	+	4	1321	c.177G>A	c.(175-177)ctG>ctA	p.L59L	SCNN1D_ENST00000325425.8_Silent_p.L125L|SCNN1D_ENST00000379116.5_Silent_p.L223L|SCNN1D_ENST00000400928.3_Silent_p.L59L			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	59					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCCGGGAGCTGCTCACCTTCT	0.701																																					p.L223L													.	SCNN1D	60		0			c.G669A												25.0	19.0	21.0					1																	1221416		2160	4263	6423	SO:0001819	synonymous_variant	6339	exon7			GGAGCTGCTCACC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.177G>A	1.37:g.1221416G>A			Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	100	0.03	3	NM_001130413	0		0	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37																																																																																						0.701	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000005802.2		NM_002978	
SKI	6497	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	2235825	2235825	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:2235825C>T	ENST00000378536.4	+	5	1640	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	523					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCCCTGCCCTCGGCCGTCCCT	0.706																																					p.S523L	Ovarian(177;144 1678 13697 20086 27838 40755)												.	SKI	33		0			c.C1568T																																									SO:0001583	missense	6497	exon5			TGCCCTCGGCCGT	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1568C>T	1.37:g.2235825C>T	ENSP00000367797:p.Ser523Leu		Somatic	78	0.0128205128	1		WXS	Illumina HiSeq	Phase_I	57	0.49	28	NM_003036	24	0.54	13	Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	C	4.679	0.126318	0.08931	.	.	ENSG00000157933	ENST00000378536	D	0.96011	-3.88	4.37	1.43	0.22495	.	3.607560	0.01058	N	0.004585	D	0.91761	0.7394	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.79560	-0.1753	10	0.26408	T	0.33	8.0E-4	7.004	0.24826	0.0:0.6234:0.0:0.3766	.	523	P12755	SKI_HUMAN	L	523	ENSP00000367797:S523L	ENSP00000367797:S523L	S	+	2	0	SKI	2225685	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.371000	0.07513	0.115000	0.18071	0.561000	0.74099	TCG			0.706	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004070.1		NM_003036	
PLOD1	5351	broad.mit.edu	37	1	12034807	12034808	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:12034807_12034808insG	ENST00000196061.4	+	19	2153_2154	c.2126_2127insG	c.(2125-2130)gaggggfs	p.EG709fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.EG756fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	709	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CATTACCATGAGGGGCTCCCCA	0.619																																					p.E709fs													.	PLOD1	75		0			c.2126_2127insG																																									SO:0001589	frameshift_variant	5351	exon19			ACCATGAGGGGCT	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.2130dupG	1.37:g.12034811_12034811dupG	ENSP00000196061:p.Glu709fs		Somatic	283	0	0		WXS	Illumina HiSeq	Phase_I	327	0.02	7	NM_000302	375	0.00	0	B4DR87|Q96AV9|Q9H132	Frame_Shift_Ins	INS	ENST00000196061.4	37	CCDS142.1																																																																																					0.619	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000006865.1		NM_000302	
TMEM82	388595	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	16069671	16069671	+	Silent	SNP	G	G	A	rs138383534	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:16069671G>A	ENST00000375782.1	+	3	456	c.318G>A	c.(316-318)acG>acA	p.T106T	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	106	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGTCCACGCTGCTGTCCC	0.706													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		13785	0.0		0.0	False		,,,				2504	0.0				p.T106T													.	.			0			c.G318A							G		39,4361	41.6+/-74.8	0,39,2161	35.0	34.0	34.0		318	-8.9	0.2	1	dbSNP_134	34	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	TMEM82	NM_001013641.1		0,41,6457	AA,AG,GG		0.0233,0.8864,0.3155		106/344	16069671	41,12955	2200	4298	6498	SO:0001819	synonymous_variant	388595	exon3			GTCCACGCTGCTG		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.318G>A	1.37:g.16069671G>A			Somatic	24	0	0		WXS	Illumina HiSeq	.	38	0.21	8	NM_001013641	0		0	B2RP27|Q5VVD4	Silent	SNP	ENST00000375782.1	37	CCDS30608.1																																																																																			0.003		0.706	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008471.2		NM_001013641	
FBLIM1	54751	broad.mit.edu	37	1	16091540	16091540	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:16091540G>T	ENST00000375766.3	+	3	702	c.62G>T	c.(61-63)cGc>cTc	p.R21L	FBLIM1_ENST00000441801.2_Missense_Mutation_p.R21L|FBLIM1_ENST00000332305.5_Missense_Mutation_p.R21L|FBLIM1_ENST00000400773.1_Missense_Mutation_p.R21L|FBLIM1_ENST00000375771.1_Missense_Mutation_p.R21L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	21	Filamin-binding.|Intrinsically disordered.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCACCCCCGCGCCGCGATGTG	0.657																																					p.R21L													.	FBLIM1	46		0			c.G62T												71.0	69.0	70.0					1																	16091540		2203	4300	6503	SO:0001583	missense	54751	exon2			CCCCGCGCCGCGA		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.62G>T	1.37:g.16091540G>T	ENSP00000364921:p.Arg21Leu		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	62	0.05	3	NM_001024215	85	0.00	0	B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345480	0.61073	.	.	ENSG00000162458	ENST00000496928;ENST00000508310;ENST00000510393;ENST00000375771;ENST00000502638;ENST00000375766;ENST00000400773;ENST00000483633;ENST00000502739;ENST00000431771;ENST00000441801;ENST00000332305	T;T;T;T;T;T;T;T;T	0.67698	-0.28;0.12;0.12;-0.18;0.01;0.49;-0.01;0.04;-0.18	4.69	4.69	0.59074	.	0.067096	0.64402	D	0.000014	T	0.80433	0.4622	M	0.73598	2.24	0.27200	N	0.96019	D;D;D	0.89917	0.996;0.998;1.0	P;D;D	0.80764	0.841;0.994;0.947	T	0.73678	-0.3907	10	0.44086	T	0.13	.	15.1344	0.72552	0.0:0.0:1.0:0.0	.	21;21;21	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	L	21	ENSP00000421885:R21L;ENSP00000364926:R21L;ENSP00000364921:R21L;ENSP00000383584:R21L;ENSP00000427052:R21L;ENSP00000424920:R21L;ENSP00000402401:R21L;ENSP00000416387:R21L;ENSP00000364920:R21L	ENSP00000364920:R21L	R	+	2	0	FBLIM1	15964127	0.988000	0.35896	0.907000	0.35723	0.306000	0.27790	3.071000	0.50041	2.310000	0.77875	0.655000	0.94253	CGC			0.657	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008511.3		NM_001024215	
NBPF1	55672	broad.mit.edu	37	1	16907261	16907262	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:16907261_16907262insT	ENST00000430580.2	-	16	2456_2457	c.1569_1570insA	c.(1567-1572)caggatfs	p.D524fs	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	524	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTTACAGCATCCTGACATTCAT	0.45																																					.													.	.			0			.																																									SO:0001589	frameshift_variant	55672	.			CAGCATCCTGACA	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1569_1570insA	1.37:g.16907261_16907262insT	ENSP00000474456:p.Asp524fs		Somatic	1116	0	0		WXS	Illumina HiSeq	Phase_I	1154	0.00	3	.	0		0	Q8N4E8|Q9C0H0	Frame_Shift_Ins	INS	ENST00000430580.2	37																																																																																						0.450	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000106436.3		NM_017940	
PADI6	353238	broad.mit.edu	37	1	17718621	17718621	+	RNA	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:17718621G>A	ENST00000434762.2	+	0	1025							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGCTGCAGCTGCAGGGTTTTG	0.567																																					p.L325L													.	PADI6	51		0			c.G975A												31.0	40.0	37.0					1																	17718621		2016	4170	6186			353238	exon9			GCAGCTGCAGGGT	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17718621G>A			Somatic	273	0.0036630037	1		WXS	Illumina HiSeq	Phase_I	290	0.01	4	NM_207421	0		0	Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.567	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000006804.4		NM_207421	
UBR4	23352	broad.mit.edu	37	1	19482779	19482779	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:19482779C>T	ENST00000375254.3	-	42	6085	c.6058G>A	c.(6058-6060)Gca>Aca	p.A2020T	UBR4_ENST00000375217.2_Missense_Mutation_p.A2020T|UBR4_ENST00000375226.2_Missense_Mutation_p.A2020T|UBR4_ENST00000375267.2_Missense_Mutation_p.A2020T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2020					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACAAAGTCTGCGGTGACAATT	0.438																																					p.A2020T													.	UBR4	415		0			c.G6058A												124.0	113.0	117.0					1																	19482779		2203	4300	6503	SO:0001583	missense	23352	exon42			AGTCTGCGGTGAC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6058G>A	1.37:g.19482779C>T	ENSP00000364403:p.Ala2020Thr		Somatic	296	0.0067567568	2		WXS	Illumina HiSeq	Phase_I	317	0.02	6	NM_020765	1	0.00	0	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034548	0.93575	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;3.27	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.37561	1.115	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.00630	-1.1636	10	0.29301	T	0.29	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	2020	Q5T4S7	UBR4_HUMAN	T	2020;2020;2020;2020;730;1236	ENSP00000364403:A2020T;ENSP00000364416:A2020T;ENSP00000364365:A2020T;ENSP00000364374:A2020T;ENSP00000404897:A730T	ENSP00000364365:A2020T	A	-	1	0	UBR4	19355366	1.000000	0.71417	0.907000	0.35723	0.909000	0.53808	7.076000	0.76806	2.814000	0.96858	0.591000	0.81541	GCA			0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007085.1		NM_020765	
SLC30A2	7780	broad.mit.edu	37	1	26368222	26368222	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:26368222G>T	ENST00000374278.3	-	5	876	c.660C>A	c.(658-660)atC>atA	p.I220I	SLC30A2_ENST00000374276.3_Silent_p.I269I|SLC30A2_ENST00000498060.1_5'Flank	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	220					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CATCTCTCAGGATGGTCAAGG	0.512																																					p.I269I													.	SLC30A2	29		0			c.C807A												169.0	126.0	140.0					1																	26368222		2203	4300	6503	SO:0001819	synonymous_variant	7780	exon6			TCTCAGGATGGTC	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.660C>A	1.37:g.26368222G>T			Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	247	0.02	6	NM_001004434	8	0.00	0	Q71RC8	Silent	SNP	ENST00000374278.3	37	CCDS272.1																																																																																					0.512	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019742.1		NM_032513	
FAM46B	115572	broad.mit.edu	37	1	27332836	27332836	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:27332836G>T	ENST00000289166.5	-	2	1042	c.877C>A	c.(877-879)Cgg>Agg	p.R293R		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	293										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCTGGGCCGGGGCCGGAAG	0.677																																					p.R293R													FAM46B,NS,carcinoma,+1,1	FAM46B	44	1	0			c.C877A												17.0	20.0	19.0					1																	27332836		2193	4285	6478	SO:0001819	synonymous_variant	115572	exon2			TGGGCCGGGGCCG	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.877C>A	1.37:g.27332836G>T			Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	161	0.02	3	NM_052943	484	0.00	0		Silent	SNP	ENST00000289166.5	37	CCDS294.2																																																																																					0.677	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012347.2		NM_052943	
MECR	51102	broad.mit.edu	37	1	29522739	29522739	+	Missense_Mutation	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:29522739T>C	ENST00000263702.6	-	8	887	c.862A>G	c.(862-864)Atg>Gtg	p.M288V	MECR_ENST00000373791.3_Missense_Mutation_p.M212V			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	288					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TGCTTGGCCATCCCCCCATAG	0.602																																					p.M288V													.	MECR	31		0			c.A862G												63.0	59.0	61.0					1																	29522739		2203	4300	6503	SO:0001583	missense	51102	exon8			TGGCCATCCCCCC		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.862A>G	1.37:g.29522739T>C	ENSP00000263702:p.Met288Val		Somatic	206	0.0097087379	2		WXS	Illumina HiSeq	Phase_I	391	0.02	8	NM_016011	161	0.00	0	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	CCDS30659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.26|18.26	3.583722|3.583722	0.65992|0.65992	.|.	.|.	ENSG00000116353|ENSG00000116353	ENST00000373792;ENST00000453185|ENST00000373791;ENST00000263702	.|T;T	.|0.36340	.|1.26;1.26	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48059|0.48059	0.1479|0.1479	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|B	.|0.31485	.|0.325	.|B	.|0.35607	.|0.206	T|T	0.56105|0.56105	-0.8034|-0.8034	6|10	0.11182|0.72032	T|D	0.66|0.01	.|.	12.8542|12.8542	0.57876|0.57876	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|288	.|Q9BV79	.|MECR_HUMAN	G|V	248;175|212;288	.|ENSP00000362896:M212V;ENSP00000263702:M288V	ENSP00000362897:D248G|ENSP00000263702:M288V	D|M	-|-	2|1	0|0	MECR|MECR	29395326|29395326	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.992000|0.992000	0.81027|0.81027	7.416000|7.416000	0.80143|0.80143	2.129000|2.129000	0.65627|0.65627	0.459000|0.459000	0.35465|0.35465	GAT|ATG			0.602	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130740.1		NM_016011	
MATN1	4146	broad.mit.edu	37	1	31194457	31194458	+	Frame_Shift_Ins	INS	-	-	G	rs143188575		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:31194457_31194458insG	ENST00000373765.4	-	2	270_271	c.235_236insC	c.(235-237)cggfs	p.R79fs	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	79	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CATGCCCACCCGGGTGGCATTG	0.604																																					p.R79fs													.	MATN1	28		0			c.236_237insC																																									SO:0001589	frameshift_variant	4146	exon2			CCCACCCGGGTGG	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.236dupC	1.37:g.31194460_31194460dupG	ENSP00000362870:p.Arg79fs		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	260	0.02	6	NM_002379	0		0	B2R7E3|Q5TBB9	Frame_Shift_Ins	INS	ENST00000373765.4	37	CCDS336.1																																																																																					0.604	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010458.1		NM_002379	
KPNA6	23633	broad.mit.edu	37	1	32623874	32623874	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:32623874G>T	ENST00000373625.3	+	5	431	c.338G>T	c.(337-339)aGt>aTt	p.S113I	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.S118I|KPNA6_ENST00000537234.1_Missense_Mutation_p.S110I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	113					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCAGAGCCTAGTCCTCCAATA	0.448																																					p.S113I													.	KPNA6	34		0			c.G338T												195.0	197.0	197.0					1																	32623874		2203	4300	6503	SO:0001583	missense	23633	exon5			AGCCTAGTCCTCC	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.338G>T	1.37:g.32623874G>T	ENSP00000362728:p.Ser113Ile		Somatic	196	0.0102040816	2		WXS	Illumina HiSeq	Phase_I	304	0.02	5	NM_012316	20	0.00	0	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476223	0.63737	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.71461	-0.57;-0.57;-0.57;1.28	5.28	4.15	0.48705	Armadillo-like helical (1);Armadillo-type fold (1);	0.081933	0.85682	D	0.000000	T	0.63283	0.2498	M	0.64997	1.995	0.49798	D	0.999825	B;B;B	0.23249	0.001;0.049;0.082	B;B;B	0.25987	0.006;0.065;0.02	T	0.66850	-0.5819	10	0.87932	D	0	-1.2131	3.9197	0.09237	0.3368:0.0:0.6632:0.0	.	118;118;113	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	I	113;87;110;118;64	ENSP00000362728:S113I;ENSP00000444930:S110I;ENSP00000440609:S118I;ENSP00000415677:S64I	ENSP00000362719:S87I	S	+	2	0	KPNA6	32396461	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.586000	0.82596	2.645000	0.89757	0.561000	0.74099	AGT			0.448	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000012527.4		NM_012316	
TSSK3	81629	broad.mit.edu	37	1	32829624	32829624	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:32829624G>T	ENST00000373534.3	+	2	1079	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CAAAAAAGGTGATGTCTGGAG	0.582																																					p.D192Y													.	TSSK3	22		0			c.G574T												168.0	140.0	149.0					1																	32829624		2203	4300	6503	SO:0001583	missense	81629	exon2			AAAGGTGATGTCT	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.574G>T	1.37:g.32829624G>T	ENSP00000362634:p.Asp192Tyr		Somatic	157	0.0127388535	2		WXS	Illumina HiSeq	Phase_I	245	0.03	7	NM_052841	7	0.00	0	Q5TEE5	Missense_Mutation	SNP	ENST00000373534.3	37	CCDS362.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505696	0.64410	.	.	ENSG00000162526	ENST00000373534	T	0.75704	-0.96	5.64	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.91915	0.7440	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94509	0.7717	10	0.87932	D	0	.	15.1475	0.72667	0.0:0.1416:0.8584:0.0	.	192	Q96PN8	TSSK3_HUMAN	Y	192	ENSP00000362634:D192Y	ENSP00000362634:D192Y	D	+	1	0	TSSK3	32602211	1.000000	0.71417	0.888000	0.34837	0.880000	0.50808	7.894000	0.87336	2.832000	0.97577	0.655000	0.94253	GAT			0.582	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000020049.1			
YARS	8565	broad.mit.edu	37	1	33241605	33241605	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:33241605G>T	ENST00000373477.4	-	13	2472	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	522					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCCCCTTTCAGCGATTTACAG	0.512																																					p.L522M													.	YARS	34		0			c.C1564A												132.0	119.0	123.0					1																	33241605		2203	4300	6503	SO:0001583	missense	8565	exon13			CTTTCAGCGATTT	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1564C>A	1.37:g.33241605G>T	ENSP00000362576:p.Leu522Met		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_I	233	0.02	4	NM_003680	1759	0.00	0	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229451	0.95173	.	.	ENSG00000134684	ENST00000373477	T	0.78364	-1.17	5.85	5.85	0.93711	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	M	0.69248	2.105	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	D	0.87302	0.2306	10	0.87932	D	0	-9.4521	20.5471	0.99284	0.0:0.0:1.0:0.0	.	522	P54577	SYYC_HUMAN	M	522	ENSP00000362576:L522M	ENSP00000362576:L522M	L	-	1	2	YARS	33014192	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	6.734000	0.74801	2.941000	0.99782	0.655000	0.94253	CTG			0.512	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011225.1		NM_003680	
ZMYM1	79830	broad.mit.edu	37	1	35579584	35579584	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:35579584G>T	ENST00000373330.1	+	11	2327	c.2153G>T	c.(2152-2154)aGc>aTc	p.S718I	ZMYM1_ENST00000359858.4_Missense_Mutation_p.S718I|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	718						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCTATGATAGCACCACTAAT	0.353																																					p.S718I													.	ZMYM1	86		0			c.G2153T												62.0	60.0	61.0					1																	35579584		1820	4085	5905	SO:0001583	missense	79830	exon10			ATGATAGCACCAC	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2153G>T	1.37:g.35579584G>T	ENSP00000362427:p.Ser718Ile		Somatic	370	0.0027027027	1		WXS	Illumina HiSeq	Phase_I	664	0.01	6	NM_024772	23	0.00	0	D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	9.753	1.168073	0.21621	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.23950	1.88;1.88;1.88	4.24	4.24	0.50183	Ribonuclease H-like (1);	0.119478	0.38381	N	0.001705	T	0.42040	0.1185	L	0.57536	1.79	0.29091	N	0.882099	D;D	0.71674	0.997;0.998	D;D	0.83275	0.996;0.959	T	0.20306	-1.0279	9	.	.	.	-15.6249	8.2174	0.31521	0.1054:0.0:0.8946:0.0	.	699;718	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	I	718;643;718	ENSP00000352920:S718I;ENSP00000362426:S643I;ENSP00000362427:S718I	.	S	+	2	0	ZMYM1	35352171	0.909000	0.30893	0.936000	0.37596	0.005000	0.04900	1.366000	0.34193	2.647000	0.89833	0.557000	0.71058	AGC			0.353	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012705.1		NM_024772	
KIAA0319L	79932	broad.mit.edu	37	1	35944611	35944611	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:35944611G>T	ENST00000325722.3	-	4	1103	c.869C>A	c.(868-870)cCt>cAt	p.P290H		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	290						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGGGGGGTAGGGGTAGCATA	0.498																																					p.P290H													.	KIAA0319L	156		0			c.C869A												81.0	86.0	84.0					1																	35944611		2203	4300	6503	SO:0001583	missense	79932	exon4			GGGGTAGGGGTAG	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.869C>A	1.37:g.35944611G>T	ENSP00000318406:p.Pro290His		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	222	0.02	4	NM_024874	5	0.00	0	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301170	0.23650	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258	T;T;T;T	0.37752	3.14;3.09;2.53;1.18	5.65	3.72	0.42706	Fibronectin, type III (1);	0.326366	0.26638	N	0.023266	T	0.41673	0.1169	L	0.32530	0.975	0.19775	N	0.999952	D;D;D	0.71674	0.998;0.994;0.994	D;P;P	0.63877	0.919;0.751;0.819	T	0.14924	-1.0455	10	0.49607	T	0.09	-0.1942	7.6425	0.28303	0.2042:0.0:0.7958:0.0	.	290;290;290	B4DYG9;B1AN14;Q8IZA0	.;.;K319L_HUMAN	H	290	ENSP00000318406:P290H;ENSP00000395883:P290H;ENSP00000407576:P290H;ENSP00000362355:P290H	ENSP00000318406:P290H	P	-	2	0	KIAA0319L	35717198	0.994000	0.37717	0.045000	0.18777	0.006000	0.05464	3.118000	0.50414	0.683000	0.31428	-0.142000	0.14014	CCT			0.498	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012684.2		NM_024874	
DNALI1	7802	broad.mit.edu	37	1	38027269	38027269	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:38027269G>T	ENST00000296218.7	+	4	585	c.575G>T	c.(574-576)aGc>aTc	p.S192I	DNALI1_ENST00000541606.1_Missense_Mutation_p.S44I|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	170					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGTACGAGAGCAGCGTGGCG	0.612											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S192I													.	DNALI1	25		0			c.G575T												143.0	95.0	111.0					1																	38027269		2203	4300	6503	SO:0001583	missense	7802	exon4			ACGAGAGCAGCGT	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.575G>T	1.37:g.38027269G>T	ENSP00000296218:p.Ser192Ile		Somatic	142	0	0	875	WXS	Illumina HiSeq	Phase_I	249	0.02	4	NM_003462	58	0.00	0	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	CCDS420.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302677	0.95601	.	.	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.56275	0.47	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88058	0.2792	10	0.87932	D	0	-11.0353	19.1061	0.93296	0.0:0.0:1.0:0.0	.	170	O14645	IDLC_HUMAN	I	192;44	ENSP00000296218:S192I	ENSP00000296218:S192I	S	+	2	0	DNALI1	37799856	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.785000	0.99042	2.574000	0.86865	0.655000	0.94253	AGC			0.612	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012159.1		NM_003462	
FHL3	2275	broad.mit.edu	37	1	38465022	38465022	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:38465022C>A	ENST00000373016.3	-	2	231	c.63G>T	c.(61-63)caG>caT	p.Q21H	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	21					actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCTGTCTGTCTGGATGTACT	0.537																																					p.Q21H													.	FHL3	9		0			c.G63T												107.0	95.0	99.0					1																	38465022		2203	4300	6503	SO:0001583	missense	2275	exon2			GTCTGTCTGGATG	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.63G>T	1.37:g.38465022C>A	ENSP00000362107:p.Gln21His		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	225	0.01	3	NM_004468	63	0.00	0	D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130220	0.77549	.	.	ENSG00000183386	ENST00000373016	D	0.87029	-2.2	5.77	5.77	0.91146	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	D	0.93363	0.7884	M	0.81497	2.545	0.58432	D	0.999996	D;D	0.64830	0.994;0.991	P;P	0.62813	0.907;0.818	D	0.92497	0.6005	10	0.45353	T	0.12	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	21;21	Q9P100;Q13643	.;FHL3_HUMAN	H	21	ENSP00000362107:Q21H	ENSP00000362107:Q21H	Q	-	3	2	FHL3	38237609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.067000	0.50010	2.744000	0.94065	0.561000	0.74099	CAG			0.537	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012958.1		NM_004468	
MACF1	23499	broad.mit.edu	37	1	39852903	39852903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:39852903C>T	ENST00000372915.3	+	57	14491	c.14404C>T	c.(14404-14406)Cag>Tag	p.Q4802*	MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q3237*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2714*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2735*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2735*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4834*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.Q4797*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2735*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4802					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCACCCAGCAGTTCCAGCA	0.428																																					p.Q2735X													.	MACF1	909		0			c.C8203T												134.0	150.0	145.0					1																	39852903		2203	4300	6503	SO:0001587	stop_gained	23499	exon54			ACCCAGCAGTTCC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14404C>T	1.37:g.39852903C>T	ENSP00000362006:p.Gln4802*		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	240	0.02	4	NM_012090	4	0.00	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.739742|11.739742	0.99597|0.99597	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.56097	.|D	.|0.000022	T|.	0.82231|.	0.4992|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82382|.	-0.0485|.	4|.	.|0.66056	.|D	.|0.02	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1847|2735;4802;2735;2735;2714;3237	.|.	.|ENSP00000289893:Q3237X	A|Q	+|+	2|1	0|0	MACF1|MACF1	39625490|39625490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|CAG			0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding		OTTHUMT00000392096.1		NM_033044	
OXCT2	64064	broad.mit.edu	37	1	40235515	40235515	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:40235515G>T	ENST00000327582.5	-	1	1505	c.1413C>A	c.(1411-1413)gcC>gcA	p.A471A	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	471					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CGTCAAACACGGCCTTCTCGG	0.587																																					p.A471A													.	OXCT2	12		0			c.C1413A												69.0	66.0	67.0					1																	40235515		2203	4300	6503	SO:0001819	synonymous_variant	64064	exon1			AAACACGGCCTTC	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1413C>A	1.37:g.40235515G>T			Somatic	464	0	0		WXS	Illumina HiSeq	Phase_I	969	0.01	8	NM_022120	32	0.00	0	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Silent	SNP	ENST00000327582.5	37	CCDS445.1																																																																																					0.587	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025656.1		NM_022120	
RIMS3	9783	broad.mit.edu	37	1	41094487	41094487	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:41094487G>T	ENST00000372684.3	-	7	1178	c.709C>A	c.(709-711)Ctg>Atg	p.L237M	RIMS3_ENST00000372683.1_Missense_Mutation_p.L237M	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	237	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCCACCTGCAGCACCTTGCCC	0.522																																					p.L237M													.	RIMS3	44		0			c.C709A												118.0	110.0	113.0					1																	41094487		2203	4300	6503	SO:0001583	missense	9783	exon7			CCTGCAGCACCTT	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.709C>A	1.37:g.41094487G>T	ENSP00000361769:p.Leu237Met		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	203	0.02	5	NM_014747	11	0.00	0	D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314789	0.60524	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	D;D	0.88431	-2.38;-2.38	4.92	2.89	0.33648	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94653	0.8276	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93310	0.6684	10	0.87932	D	0	-13.48	5.3487	0.16024	0.3214:0.0:0.6786:0.0	.	237	Q9UJD0	RIMS3_HUMAN	M	237	ENSP00000361769:L237M;ENSP00000361768:L237M	ENSP00000361768:L237M	L	-	1	2	RIMS3	40867074	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.937000	0.40193	1.288000	0.44600	0.491000	0.48974	CTG			0.522	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019585.1		NM_014747	
SZT2	23334	broad.mit.edu	37	1	43868912	43868912	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:43868912G>A	ENST00000562955.1	+	2	92	c.92G>A	c.(91-93)cGc>cAc	p.R31H	SZT2_ENST00000372450.4_Missense_Mutation_p.R31H|SZT2_ENST00000310739.4_Missense_Mutation_p.R31H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	31					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGAAATGTTCGCCTGGCTTGG	0.493																																					p.R31H													SZT2_ENST00000562955,NS,carcinoma,+1,4	SZT2	383	4	0			c.G92A												103.0	97.0	99.0					1																	43868912		2203	4300	6503	SO:0001583	missense	23334	exon2			ATGTTCGCCTGGC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.92G>A	1.37:g.43868912G>A	ENSP00000457168:p.Arg31His		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	263	0.02	4	NM_015284	3	0.00	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	35	5.579148	0.96565	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.78155	0.4239	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.78907	-0.2019	8	0.87932	D	0	.	19.8786	0.96886	0.0:0.0:1.0:0.0	.	31;31	Q5T011-4;Q5T011-7	.;.	H	31	.	ENSP00000312234:R31H	R	+	2	0	AL139289.1	43641499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.995000	0.93534	2.693000	0.91896	0.655000	0.94253	CGC			0.493	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019517.3		NM_015284	
ATP6V0B	533	broad.mit.edu	37	1	44442294	44442294	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:44442294G>T	ENST00000472174.2	+	5	704	c.311G>T	c.(310-312)gGc>gTc	p.G104V	B4GALT2_ENST00000434555.2_5'Flank|ATP6V0B_ENST00000236067.4_Missense_Mutation_p.G57V|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000471859.2_Missense_Mutation_p.G151V|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000532642.1_Missense_Mutation_p.G104V|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.G57V	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	104					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCATCTACGGCATCATCATG	0.483																																					p.G104V													.	ATP6V0B	22		0			c.G311T												114.0	104.0	107.0					1																	44442294		2203	4300	6503	SO:0001583	missense	533	exon5			TCTACGGCATCAT	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.311G>T	1.37:g.44442294G>T	ENSP00000431605:p.Gly104Val		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	259	0.02	4	NM_004047	1048	0.00	0	D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439346	0.83885	.	.	ENSG00000117410	ENST00000472505;ENST00000472174;ENST00000532642;ENST00000236067;ENST00000471859;ENST00000498664	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	4.97	3.01	0.34805	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85958	0.1468	10	0.87932	D	0	-8.4143	9.6656	0.39983	0.0746:0.0:0.7852:0.1403	.	104;104	Q99437;E9PNL3	VATO_HUMAN;.	V	57;104;104;57;151;57	ENSP00000432994:G57V;ENSP00000431605:G104V;ENSP00000434729:G104V;ENSP00000236067:G57V;ENSP00000432754:G151V;ENSP00000434094:G57V	ENSP00000236067:G57V	G	+	2	0	ATP6V0B	44214881	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	9.214000	0.95140	1.083000	0.41159	0.561000	0.74099	GGC			0.483	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022854.2		NM_004047	
BEST4	266675	broad.mit.edu	37	1	45250928	45250928	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:45250928C>T	ENST00000372207.3	-	6	763	c.764G>A	c.(763-765)cGc>cAc	p.R255H		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	255						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CACAAACTGGCGGCCAACCAG	0.612																																					p.R255H													BEST4,colon,carcinoma,0,1	BEST4	20	1	0			c.G764A												32.0	41.0	38.0					1																	45250928		2203	4299	6502	SO:0001583	missense	266675	exon6			AACTGGCGGCCAA	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.764G>A	1.37:g.45250928C>T	ENSP00000361281:p.Arg255His		Somatic	378	0	0		WXS	Illumina HiSeq	Phase_I	687	0.01	8	NM_153274	3	0.00	0	Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361938	0.82353	.	.	ENSG00000142959	ENST00000372207	D	0.98889	-5.21	5.07	3.16	0.36331	.	0.060871	0.64402	N	0.000003	D	0.98887	0.9623	M	0.84683	2.71	0.48185	D	0.999605	D	0.76494	0.999	D	0.71414	0.973	D	0.98808	1.0742	10	0.49607	T	0.09	-21.7702	10.6044	0.45386	0.0:0.8381:0.0:0.1619	.	255	Q8NFU0	BEST4_HUMAN	H	255	ENSP00000361281:R255H	ENSP00000361281:R255H	R	-	2	0	BEST4	45023515	0.948000	0.32251	1.000000	0.80357	0.991000	0.79684	2.071000	0.41500	1.368000	0.46115	0.655000	0.94253	CGC			0.612	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023425.1		NM_153274	
PTCH2	8643	broad.mit.edu	37	1	45294672	45294672	+	Silent	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:45294672C>A	ENST00000372192.3	-	11	1576	c.1446G>T	c.(1444-1446)ctG>ctT	p.L482L	PTCH2_ENST00000447098.2_Silent_p.L482L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	482	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGTGCCAGGCAGAGCCTCTG	0.622									Basal Cell Nevus syndrome																												p.L482L													.	PTCH2	96		0			c.G1446T												27.0	22.0	24.0					1																	45294672		2182	4272	6454	SO:0001819	synonymous_variant	8643	exon11	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	GCCAGGCAGAGCC	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1446G>T	1.37:g.45294672C>A			Somatic	159	0.0125786164	2		WXS	Illumina HiSeq	Phase_I	240	0.02	5	NM_003738	46	0.00	0	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	CCDS516.1																																																																																					0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000023428.4		NM_003738	
MUTYH	4595	broad.mit.edu	37	1	45796995	45796995	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:45796995G>T	ENST00000372098.3	-	14	1459	c.1326C>A	c.(1324-1326)acC>acA	p.T442T	MUTYH_ENST00000372104.1_Silent_p.T417T|MUTYH_ENST00000372115.3_Silent_p.T431T|MUTYH_ENST00000488731.2_Silent_p.T112T|MUTYH_ENST00000456914.2_Silent_p.T417T|MUTYH_ENST00000528013.2_Silent_p.T431T|MUTYH_ENST00000448481.1_Silent_p.T428T|MUTYH_ENST00000372110.3_Silent_p.T432T|MUTYH_ENST00000372100.5_Silent_p.T428T|MUTYH_ENST00000355498.2_Silent_p.T417T|MUTYH_ENST00000529984.1_Silent_p.T112T|MUTYH_ENST00000354383.6_Silent_p.T418T|MUTYH_ENST00000450313.1_Silent_p.T445T|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528332.2_Silent_p.T126T			Q9UIF7	MUTYH_HUMAN	mutY homolog	442	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGTGAGAGAAGGTGTGGACAA	0.547			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.T445T			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	MUTYH	38		0			c.C1335A												87.0	84.0	85.0					1																	45796995		2203	4300	6503	SO:0001819	synonymous_variant	4595	exon14	Familial Cancer Database	MAP, MYH-associated polyposis	AGAGAAGGTGTGG	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1326C>A	1.37:g.45796995G>T			Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	214	0.01	3	NM_001128425	202	0.00	0	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	2.235	-0.375139	0.05034	.	.	ENSG00000132781	ENST00000529892	.	.	.	5.16	1.08	0.20341	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22312	-1.0220	4	.	.	.	-2.8215	2.0555	0.03580	0.2793:0.1211:0.4753:0.1243	.	.	.	.	H	109	.	.	P	-	2	0	MUTYH	45569582	0.940000	0.31905	0.815000	0.32552	0.768000	0.43524	0.722000	0.25925	0.192000	0.20272	-0.136000	0.14681	CCT			0.547	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000020529.1		NM_012222	
EFCAB14	9813	broad.mit.edu	37	1	47154204	47154204	+	Missense_Mutation	SNP	G	G	T	rs542845933		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:47154204G>T	ENST00000371933.3	-	7	1784	c.808C>A	c.(808-810)Ctt>Att	p.L270I	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000484461.1_5'UTR|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	270							calcium ion binding (GO:0005509)										GAGTTGTGAAGGTACAGGATA	0.418																																					p.L270I													.	.			0			c.C808A												95.0	80.0	85.0					1																	47154204		2203	4300	6503	SO:0001583	missense	9813	exon7			TGTGAAGGTACAG	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.808C>A	1.37:g.47154204G>T	ENSP00000361001:p.Leu270Ile		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	273	0.01	4	NM_014774	13	0.00	0	D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699892	0.48307	.	.	ENSG00000159658	ENST00000371933	T	0.54071	0.59	5.3	4.36	0.52297	.	0.127808	0.53938	N	0.000048	T	0.50854	0.1640	M	0.63843	1.955	0.80722	D	1	B	0.22414	0.069	B	0.25759	0.063	T	0.49624	-0.8920	10	0.37606	T	0.19	0.3797	13.552	0.61738	0.0:0.0:0.8444:0.1556	.	270	O75071	K0494_HUMAN	I	270	ENSP00000361001:L270I	ENSP00000361001:L270I	L	-	1	0	KIAA0494	46926791	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.553000	0.45837	1.409000	0.46915	0.561000	0.74099	CTT			0.418	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021931.1		NM_014774	
CDCP2	200008	broad.mit.edu	37	1	54605300	54605300	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:54605300G>T	ENST00000371330.1	-	4	2090	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	415						extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TGGAGAAGGAGCTGGAGAAGA	0.592																																					p.L415I													.	CDCP2	52		0			c.C1243A												55.0	54.0	54.0					1																	54605300		2203	4300	6503	SO:0001583	missense	200008	exon4			GAAGGAGCTGGAG		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1243C>A	1.37:g.54605300G>T	ENSP00000360381:p.Leu415Ile		Somatic	192	0.0052083333	1		WXS	Illumina HiSeq	Phase_I	261	0.02	5	NM_201546	0		0	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	7.389	0.630362	0.14322	.	.	ENSG00000157211	ENST00000371330	T	0.37915	1.17	4.2	-8.4	0.00965	.	1.825990	0.03220	N	0.177421	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.16600	-1.0397	10	0.23891	T	0.37	1.5549	0.5631	0.00683	0.2103:0.2543:0.2622:0.2733	.	415	Q5VXM1	CDCP2_HUMAN	I	415	ENSP00000360381:L415I	ENSP00000360381:L415I	L	-	1	0	CDCP2	54377888	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.354000	0.02614	-3.156000	0.00229	-0.752000	0.03492	CTC			0.592	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000022209.2		NM_201546	
INADL	10207	broad.mit.edu	37	1	62261198	62261198	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:62261198G>T	ENST00000371158.2	+	10	1342	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	INADL_ENST00000316485.6_Missense_Mutation_p.G410C	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	410	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTACCACAATGGCCACATTCA	0.368																																					p.G410C													.	INADL	179		0			c.G1228T												125.0	108.0	114.0					1																	62261198		2203	4300	6503	SO:0001583	missense	10207	exon10			CACAATGGCCACA	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1228G>T	1.37:g.62261198G>T	ENSP00000360200:p.Gly410Cys		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	214	0.02	5	NM_176877	10	0.00	0	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833151	0.71258	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.37058	1.22;1.22	5.29	5.29	0.74685	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.78059	0.4224	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87482	0.2421	10	0.87932	D	0	.	19.1314	0.93408	0.0:0.0:1.0:0.0	.	410;410;410	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	C	410	ENSP00000360200:G410C;ENSP00000326199:G410C	ENSP00000255202:G410C	G	+	1	0	INADL	62033786	1.000000	0.71417	0.986000	0.45419	0.674000	0.39518	7.951000	0.87819	2.751000	0.94390	0.650000	0.86243	GGC			0.368	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023639.2		NM_170605	
LRRC40	55631	broad.mit.edu	37	1	70650540	70650540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:70650540G>T	ENST00000370952.3	-	4	544	c.465C>A	c.(463-465)tgC>tgA	p.C155*		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	155						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GGAGATACAGGCACTTCAGGT	0.308																																					p.C155X													.	LRRC40	66		0			c.C465A												155.0	155.0	155.0					1																	70650540		2202	4300	6502	SO:0001587	stop_gained	55631	exon4			ATACAGGCACTTC		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.465C>A	1.37:g.70650540G>T	ENSP00000359990:p.Cys155*		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	226	0.02	4	NM_017768	24	0.00	0	Q9BTR7|Q9NSK1|Q9NXC1	Nonsense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901985	0.72754	.	.	ENSG00000066557	ENST00000370952	.	.	.	5.98	-0.66	0.11421	.	0.564075	0.22199	N	0.063276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	3.5717	0.07920	0.1817:0.3181:0.3957:0.1044	.	.	.	.	X	155	.	ENSP00000359990:C155X	C	-	3	2	LRRC40	70423128	0.327000	0.24678	0.005000	0.12908	0.751000	0.42716	0.251000	0.18257	-0.366000	0.08064	0.655000	0.94253	TGC			0.308	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025914.1		NM_017768	
USP33	23032	broad.mit.edu	37	1	78194095	78194096	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:78194095_78194096insT	ENST00000370793.1	-	11	1458_1459	c.1112_1113insA	c.(1111-1113)aagfs	p.K371fs	USP33_ENST00000357428.1_Frame_Shift_Ins_p.K371fs|USP33_ENST00000370794.3_Frame_Shift_Ins_p.K340fs|USP33_ENST00000370792.3_Frame_Shift_Ins_p.K371fs	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	371	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTTTATTAATCTTATTGCACAT	0.312																																					p.K371fs	Melanoma(152;72 1870 11110 26780 42647)												.	USP33	87		0			c.1113_1114insA																																									SO:0001589	frameshift_variant	23032	exon11			ATTAATCTTATTG	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1113dupA	1.37:g.78194097_78194097dupT	ENSP00000359829:p.Lys371fs		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	263	0.02	6	NM_201626	34	0.00	0	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Frame_Shift_Ins	INS	ENST00000370793.1	37	CCDS678.1																																																																																					0.312	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000026923.2		NM_015017	
PKN2	5586	broad.mit.edu	37	1	89270133	89270134	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:89270133_89270134insT	ENST00000370521.3	+	9	1700_1701	c.1341_1342insT	c.(1342-1344)tttfs	p.F448fs	PKN2_ENST00000370505.3_Frame_Shift_Ins_p.F291fs|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000316005.7_Frame_Shift_Ins_p.F448fs|PKN2_ENST00000544045.1_Frame_Shift_Ins_p.F122fs	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	448	C2.|Necessary to rescue apical junction formation. {ECO:0000250}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GTGCTGTAAAATTTCTGAGGTT	0.347																																					p.K447fs													.	PKN2	109		0			c.1341_1342insT																																									SO:0001589	frameshift_variant	5586	exon9			TGTAAAATTTCTG	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1344dupT	1.37:g.89270136_89270136dupT	ENSP00000359552:p.Phe448fs		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	325	0.02	7	NM_006256	8	0.00	0	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Frame_Shift_Ins	INS	ENST00000370521.3	37	CCDS714.1																																																																																					0.347	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027828.3		NM_006256	
GBP2	2634	broad.mit.edu	37	1	89579899	89579900	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:89579899_89579900insG	ENST00000370466.3	-	7	1216_1217	c.948_949insC	c.(946-951)gccttgfs	p.AL316fs	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	316					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ATCTGGGCCAAGGCCAGGACTG	0.545																																					p.L317fs													GBP2,NS,malignant_melanoma,+1,1	GBP2	58	1	0			c.949_950insC																																									SO:0001589	frameshift_variant	2634	exon7			GGGCCAAGGCCAG	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.949dupC	1.37:g.89579901_89579901dupG	ENSP00000359497:p.Ala316fs		Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	429	0.02	7	NM_004120	19	0.00	0	Q6GPH0|Q6IAU2|Q86TB0	Frame_Shift_Ins	INS	ENST00000370466.3	37	CCDS719.1																																																																																					0.545	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000029406.2		NM_004120	
PRPF38B	55119	broad.mit.edu	37	1	109238796	109238796	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:109238796G>T	ENST00000370025.4	+	3	746	c.477G>T	c.(475-477)gcG>gcT	p.A159A	PRPF38B_ENST00000370021.1_Silent_p.A48A|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Silent_p.A159A	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	159					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ATATTAGAGCGCTTGGATTTA	0.318																																					p.A159A													.	PRPF38B	55		0			c.G477T												111.0	110.0	110.0					1																	109238796		2203	4300	6503	SO:0001819	synonymous_variant	55119	exon3			TAGAGCGCTTGGA	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.477G>T	1.37:g.109238796G>T			Somatic	290	0.0034482759	1		WXS	Illumina HiSeq	Phase_I	403	0.02	10	NM_018061	51	0.00	0	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	ENST00000370025.4	37	CCDS788.1																																																																																					0.318	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030231.1		NM_018061	
STXBP3	6814	broad.mit.edu	37	1	109350028	109350028	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:109350028G>T	ENST00000370008.3	+	18	1591	c.1541G>T	c.(1540-1542)cGc>cTc	p.R514L		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	514					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTAGTGCTCGCCAGAAACCC	0.338																																					p.R514L													.	STXBP3	44		0			c.G1541T												52.0	53.0	52.0					1																	109350028		2203	4300	6503	SO:0001583	missense	6814	exon18			GTGCTCGCCAGAA	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1541G>T	1.37:g.109350028G>T	ENSP00000359025:p.Arg514Leu		Somatic	129	0.007751938	1		WXS	Illumina HiSeq	Phase_I	239	0.01	3	NM_007269	94	0.00	0	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738977	0.69304	.	.	ENSG00000116266	ENST00000370008	T	0.81247	-1.47	5.84	4.92	0.64577	.	0.047818	0.85682	D	0.000000	D	0.88314	0.6403	M	0.86864	2.845	0.58432	D	0.999994	D	0.76494	0.999	D	0.67900	0.954	D	0.87814	0.2633	10	0.44086	T	0.13	-1.7615	15.0319	0.71713	0.07:0.0:0.93:0.0	.	514	O00186	STXB3_HUMAN	L	514	ENSP00000359025:R514L	ENSP00000359025:R514L	R	+	2	0	STXBP3	109151551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.710000	0.91388	2.764000	0.94973	0.650000	0.86243	CGC			0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030591.1		NM_007269	
AKNAD1	254268	broad.mit.edu	37	1	109377673	109377673	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:109377673G>T	ENST00000370001.3	-	8	1810	c.1542C>A	c.(1540-1542)ccC>ccA	p.P514P	AKNAD1_ENST00000369995.3_Silent_p.P514P|AKNAD1_ENST00000357393.4_Silent_p.P221P|AKNAD1_ENST00000369994.1_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	514						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGTGCTCCTTGGGAATCTGGG	0.607																																					p.P514P													.	AKNAD1	83		0			c.C1542A												27.0	30.0	29.0					1																	109377673		2203	4299	6502	SO:0001819	synonymous_variant	254268	exon8			CTCCTTGGGAATC	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1542C>A	1.37:g.109377673G>T			Somatic	208	0	0		WXS	Illumina HiSeq	Phase_I	296	0.01	4	NM_152763	0		0	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	ENST00000370001.3	37	CCDS791.2																																																																																					0.607	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030923.2		NM_152763	
KCNC4	3749	hgsc.bcm.edu	37	1	110768693	110768694	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:110768693_110768694insC	ENST00000369787.3	+	3	1739_1740	c.1712_1713insC	c.(1711-1716)cgccggfs	p.R572fs	KCNC4_ENST00000438661.2_Frame_Shift_Ins_p.R572fs|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Frame_Shift_Ins_p.R572fs	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	572					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCGAGGAGCGCCGGGCCCTGC	0.639																																					p.R571fs													.	KCNC4	113		0			c.1712_1713insC																																									SO:0001589	frameshift_variant	3749	exon3			AGGAGCGCCGGGC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1714dupC	1.37:g.110768695_110768695dupC	ENSP00000358802:p.Arg572fs		Somatic	139	0	0		WXS	Illumina HiSeq	.	199	0.06	11	NM_001039574	16	0.00	0	Q3MIM4|Q5TBI6	Frame_Shift_Ins	INS	ENST00000369787.3	37	CCDS821.1																																																																																					0.639	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052146.2		NM_001039574	
OVGP1	5016	bcgsc.ca	37	1	111957533	111957533	+	Silent	SNP	C	C	T	rs112145355		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q													.	OVGP1	177		0			c.G1590A												59.0	57.0	58.0					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1590G>A	1.37:g.111957533C>T			Somatic	120	0.0166666667	2		WXS	Illumina HiSeq	Phase_1	192	0.18	35	NM_002557	1	0.00	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																					0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557	
CD101	9398	broad.mit.edu	37	1	117564466	117564466	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:117564466G>A	ENST00000256652.4	+	7	2347	c.2289G>A	c.(2287-2289)ctG>ctA	p.L763L	CD101_ENST00000369470.1_Silent_p.L763L	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	763	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TATTTCAGCTGCACATTCTGA	0.438																																					p.L763L													.	CD101	95		0			c.G2289A												96.0	97.0	97.0					1																	117564466		2203	4300	6503	SO:0001819	synonymous_variant	9398	exon7			TCAGCTGCACATT	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2289G>A	1.37:g.117564466G>A			Somatic	183	0.0054644809	1		WXS	Illumina HiSeq	Phase_I	243	0.02	4	NM_001256109	4	0.00	0	Q15856	Silent	SNP	ENST00000256652.4	37	CCDS891.1																																																																																					0.438	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033274.1		NM_004258	
PDE4DIP	9659	broad.mit.edu	37	1	144882849	144882849	+	Missense_Mutation	SNP	G	G	A	rs150222697		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:144882849G>A	ENST00000369354.3	-	24	3359	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A1194V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A1123V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A1057V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A1194V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1057					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCAGCTCCGCATTCTCAAG	0.493			T	PDGFRB	MPD																																p.A1123V				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	PDE4DIP_ENST00000369356,NS,carcinoma,+1,2	PDE4DIP	817	2	0			c.C3368T							G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	265.0	246.0	252.0		3368,3170,3170	4.8	1.0	1	dbSNP_134	252	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense,missense	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	64,64,64	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	1123/2241,1057/2363,1057/2347	144882849	2,12996	2203	4296	6499	SO:0001583	missense	9659	exon27			AGCTCCGCATTCT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3170C>T	1.37:g.144882849G>A	ENSP00000358360:p.Ala1057Val		Somatic	256	0.00390625	1		WXS	Illumina HiSeq	Phase_I	356	0.02	6	NM_001198832	0		0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416460	0.83449	0.0	2.33E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01804	4.63;4.7;4.7;4.72;4.7	5.76	4.85	0.62838	.	.	.	.	.	T	0.01976	0.0062	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.60188	-0.7312	9	0.56958	D	0.05	.	7.8592	0.29499	0.0815:0.0:0.76:0.1585	.	1123;1057	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	1123;1057;1057;1194;1194	ENSP00000327209:A1123V;ENSP00000358360:A1057V;ENSP00000358363:A1057V;ENSP00000435654:A1194V;ENSP00000358366:A1194V	ENSP00000327209:A1123V	A	-	2	0	PDE4DIP	143594206	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.375000	0.59549	1.455000	0.47813	0.655000	0.94253	GCG			0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000038858.2		NM_022359	
PDE4DIP	9659	broad.mit.edu	37	1	144921887	144921887	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:144921887G>T	ENST00000369354.3	-	9	1331	c.1142C>A	c.(1141-1143)gCt>gAt	p.A381D	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A518D|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.A544D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A447D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A381D|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.A168D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A518D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.A381D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.A544D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.A381D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	381					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGTGCTGCAGCCTCTACAAA	0.443			T	PDGFRB	MPD																																p.A544D				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817		0			c.C1631A												422.0	442.0	435.0					1																	144921887		2203	4296	6499	SO:0001583	missense	9659	exon5			GCTGCAGCCTCTA	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1142C>A	1.37:g.144921887G>T	ENSP00000358360:p.Ala381Asp		Somatic	222	0.0045045045	1		WXS	Illumina HiSeq	Phase_I	312	0.01	3	NM_001002811	20	0.00	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099147	0.76983	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408;ENST00000532801	T;T;T;T;T;T;T;T;T;T;T	0.51817	4.71;4.81;4.8;4.81;4.8;3.81;3.82;2.72;2.72;2.71;0.69	5.82	5.82	0.92795	.	.	.	.	.	T	0.58177	0.2104	M	0.62723	1.935	0.80722	D	1	B;D;B;D;D	0.76494	0.314;0.959;0.36;0.999;0.983	B;P;B;D;P	0.67725	0.121;0.714;0.175;0.953;0.851	T	0.52571	-0.8558	9	0.37606	T	0.19	.	17.595	0.88009	0.0:0.0:1.0:0.0	.	544;381;544;447;381	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	D	447;381;381;544;518;518;381;381;544;544;168;110	ENSP00000327209:A447D;ENSP00000358360:A381D;ENSP00000358363:A381D;ENSP00000435654:A518D;ENSP00000358366:A518D;ENSP00000358357:A381D;ENSP00000358355:A381D;ENSP00000316434:A544D;ENSP00000433392:A544D;ENSP00000436791:A168D;ENSP00000436751:A110D	ENSP00000327209:A447D	A	-	2	0	PDE4DIP	143633244	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.279000	0.58953	2.754000	0.94517	0.650000	0.86243	GCT			0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000038858.2		NM_022359	
SNX27	81609	broad.mit.edu	37	1	151665438	151665438	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:151665438G>T	ENST00000458013.2	+	10	1561	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	SNX27_ENST00000368838.1_Nonsense_Mutation_p.E388*|SNX27_ENST00000368843.3_Nonsense_Mutation_p.E481*			Q96L92	SNX27_HUMAN	sorting nexin family member 27	481	FERM-like region F3.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGACACAGATGAAGAAGGGAT	0.468																																					p.E481X	Colon(46;291 966 40145 41237 41888)												.	SNX27	44		0			c.G1441T												143.0	141.0	142.0					1																	151665438		2203	4300	6503	SO:0001587	stop_gained	81609	exon10			ACAGATGAAGAAG	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1441G>T	1.37:g.151665438G>T	ENSP00000400333:p.Glu481*		Somatic	204	0.0098039216	2		WXS	Illumina HiSeq	Phase_I	233	0.02	4	NM_030918	7	0.00	0	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Nonsense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	G	38	6.640161	0.97726	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.7243	0.85417	0.0:0.0:1.0:0.0	.	.	.	.	X	481;481;388	.	ENSP00000357831:E388X	E	+	1	0	SNX27	149932062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.970000	0.93415	2.726000	0.93360	0.563000	0.77884	GAA			0.468	SNX27-003	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000036624.3		NM_030918	
TDRKH	11022	broad.mit.edu	37	1	151751708	151751708	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:151751708G>A	ENST00000368822.1	-	5	1065	c.432C>T	c.(430-432)ggC>ggT	p.G144G	TDRKH_ENST00000368824.3_Silent_p.G144G|TDRKH_ENST00000458431.2_Silent_p.G144G|TDRKH_ENST00000368827.6_Silent_p.G144G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368823.1_Silent_p.G140G|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	144	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAATTGTCTCGCCGCCTCTCC	0.403																																					p.G144G													.	TDRKH	45		0			c.C432T												94.0	87.0	89.0					1																	151751708		1859	4087	5946	SO:0001819	synonymous_variant	11022	exon5			TGTCTCGCCGCCT	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.432C>T	1.37:g.151751708G>A			Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	188	0.02	3	NM_001083965	10	0.00	0	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	CCDS41394.1																																																																																					0.403	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000036648.2		NM_006862	
LOR	4014	broad.mit.edu	37	1	153233476	153233476	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:153233476G>T	ENST00000368742.3	+	2	108	c.51G>T	c.(49-51)gtG>gtT	p.V17V		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	17					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGACTGCGTGAAGACCTCTg	0.662																																					p.V17V													.	LOR	19		0			c.G51T												15.0	19.0	17.0					1																	153233476		2164	4216	6380	SO:0001819	synonymous_variant	4014	exon2			CTGCGTGAAGACC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.51G>T	1.37:g.153233476G>T			Somatic	155	0.0064516129	1		WXS	Illumina HiSeq	Phase_I	206	0.02	4	NM_000427	0		0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																					0.662	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039107.1		NM_000427	
BCAN	63827	broad.mit.edu	37	1	156626126	156626126	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:156626126G>T	ENST00000329117.5	+	9	2331	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	665	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGGAGGAGGAAGGGGTCC	0.647																																					p.E665D													BCAN,NS,carcinoma,+2,1	BCAN	174	1	0			c.G1995T												90.0	81.0	84.0					1																	156626126		2203	4300	6503	SO:0001583	missense	63827	exon9			GGAGGAGGAAGGG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1995G>T	1.37:g.156626126G>T	ENSP00000331210:p.Glu665Asp		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	224	0.01	3	NM_021948	4	0.00	0	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	1.055	-0.674671	0.03378	.	.	ENSG00000132692	ENST00000329117	D	0.92249	-3.0	5.42	1.03	0.20045	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.491622	0.19289	N	0.117954	T	0.66307	0.2776	N	0.14661	0.345	0.47276	D	0.999372	B	0.10296	0.003	B	0.10450	0.005	T	0.56727	-0.7931	10	0.14252	T	0.57	-13.6374	4.2316	0.10606	0.0825:0.1134:0.4534:0.3507	.	665	Q96GW7	PGCB_HUMAN	D	665	ENSP00000331210:E665D	ENSP00000331210:E665D	E	+	3	2	BCAN	154892750	0.000000	0.05858	1.000000	0.80357	0.102000	0.19082	-0.338000	0.07842	0.616000	0.30141	0.561000	0.74099	GAG			0.647	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081844.2		NM_021948	
NTRK1	4914	broad.mit.edu	37	1	156846300	156846300	+	Nonsense_Mutation	SNP	G	G	T	rs150579345	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:156846300G>T	ENST00000524377.1	+	14	1782	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	NTRK1_ENST00000368196.3_Nonsense_Mutation_p.E575*|NTRK1_ENST00000358660.3_Nonsense_Mutation_p.E578*|NTRK1_ENST00000392302.2_Nonsense_Mutation_p.E545*	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CGTCTGCACCGAGGGCCGCCC	0.672			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																											p.E581X				Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	NTRK1_ENST00000392302,NS,carcinoma,-2,2	NTRK1	287	2	0			c.G1741T												38.0	35.0	36.0					1																	156846300		2203	4300	6503	SO:0001587	stop_gained	4914	exon14			TGCACCGAGGGCC	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1741G>T	1.37:g.156846300G>T	ENSP00000431418:p.Glu581*		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	173	0.02	3	NM_002529	0		0	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Nonsense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	40	8.341668	0.98769	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6171	0.88070	0.0:0.0:1.0:0.0	.	.	.	.	X	545;575;581;578	.	ENSP00000351486:E578X	E	+	1	0	NTRK1	155112924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.746000	0.94184	0.561000	0.74099	GAG			0.672	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000392279.1		NM_002529	
NR1I3	9970	broad.mit.edu	37	1	161202704	161202704	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:161202704G>T	ENST00000367982.4	-	5	596	c.441C>A	c.(439-441)ccC>ccA	p.P147P	NR1I3_ENST00000506209.1_Silent_p.P118P|NR1I3_ENST00000504010.1_Silent_p.P118P|NR1I3_ENST00000367984.4_Silent_p.P147P|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367985.3_Silent_p.P147P|NR1I3_ENST00000437437.2_Silent_p.P118P|NR1I3_ENST00000367980.2_Silent_p.P147P|NR1I3_ENST00000512372.1_Silent_p.P118P|NR1I3_ENST00000442691.2_Silent_p.P147P|NR1I3_ENST00000515621.1_Silent_p.P72P|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000367981.3_Silent_p.P118P|NR1I3_ENST00000367979.2_Silent_p.P147P|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000428574.2_Silent_p.P147P|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367983.4_Silent_p.P147P|NR1I3_ENST00000508740.1_Silent_p.P118P|NR1I3_ENST00000412844.2_Silent_p.P118P|NR1I3_ENST00000505005.1_Silent_p.P147P|NR1I3_ENST00000515452.1_Silent_p.P147P|NR1I3_ENST00000511676.1_Silent_p.P118P|NR1I3_ENST00000502985.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	147					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGGTGGGCAAGGGCTGGTGAT	0.552																																					p.P147P													NR1I3_ENST00000428574,NS,carcinoma,0,2	NR1I3	74	2	0			c.C441A												125.0	130.0	128.0					1																	161202704		2203	4300	6503	SO:0001819	synonymous_variant	0	exon5			GGGCAAGGGCTGG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.441C>A	1.37:g.161202704G>T			Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	261	0.01	3	NM_001077481	5	0.00	0	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Silent	SNP	ENST00000367982.4	37	CCDS41430.1																																																																																					0.552	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000083048.2			
FCGR3A	2214	broad.mit.edu	37	1	161518226	161518226	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:161518226G>T	ENST00000436743.1	-	4	458	c.304C>A	c.(304-306)Cta>Ata	p.L102I	FCGR3A_ENST00000367969.3_Missense_Mutation_p.L138I|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.L102I|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.L137I	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	102	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGACTTCTAGCTGCACCGGG	0.507																																					p.L138I													.	FCGR3A	38		0			c.C412A												103.0	101.0	101.0					1																	161518226		2203	4297	6500	SO:0001583	missense	2214	exon3			CTTCTAGCTGCAC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.304C>A	1.37:g.161518226G>T	ENSP00000416607:p.Leu102Ile		Somatic	480	0.0083333333	4		WXS	Illumina HiSeq	Phase_I	629	0.01	7	NM_000569	14	0.00	0	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.90|17.90	3.502679|3.502679	0.64298|0.64298	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336|ENST00000426740	T;T;T;T;T;T|.	0.13901|.	2.55;2.55;2.55;2.55;2.55;2.55|.	4.43|4.43	2.54|2.54	0.30619|0.30619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.41001|.	D|.	0.000976|.	T|T	0.40546|0.40546	0.1121|0.1121	M|M	0.80847|0.80847	2.515|2.515	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|T	0.34502|0.34502	-0.9826|-0.9826	10|5	0.87932|.	D|.	0|.	.|.	6.1628|6.1628	0.20373|0.20373	0.2234:0.0:0.7766:0.0|0.2234:0.0:0.7766:0.0	.|.	102;137;102|.	P08637;E9PG94;Q9UPY7|.	FCG3A_HUMAN;.;.|.	I|R	138;137;102;102;102;101|118	ENSP00000356946:L138I;ENSP00000392047:L137I;ENSP00000416607:L102I;ENSP00000356944:L102I;ENSP00000444971:L102I;ENSP00000396567:L101I|.	ENSP00000356944:L102I|.	L|S	-|-	1|3	2|2	FCGR3A|FCGR3A	159784850|159784850	0.060000|0.060000	0.20803|0.20803	0.025000|0.025000	0.17156|0.17156	0.500000|0.500000	0.33767|0.33767	0.736000|0.736000	0.26130|0.26130	1.209000|1.209000	0.43321|0.43321	0.591000|0.591000	0.81541|0.81541	CTA|AGC			0.507	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000102169.2		NM_000569	
FCRLB	127943	broad.mit.edu	37	1	161697415	161697415	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:161697415G>T	ENST00000367948.2	+	8	1459	c.1244G>T	c.(1243-1245)aGc>aTc	p.S415I	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S415I|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	415					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTTGCTGTGAGCCCGGGAACC	0.647																																					p.S415I													.	FCRLB	35		0			c.G1244T												22.0	28.0	26.0					1																	161697415		2200	4300	6500	SO:0001583	missense	127943	exon6			CTGTGAGCCCGGG	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.1244G>T	1.37:g.161697415G>T	ENSP00000356925:p.Ser415Ile		Somatic	179	0.0055865922	1		WXS	Illumina HiSeq	Phase_I	276	0.01	4	NM_001002901	1	0.00	0	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443569	0.63067	.	.	ENSG00000162746	ENST00000367948;ENST00000392158	T;T	0.01560	4.77;4.77	4.46	-0.763	0.11030	.	0.810102	0.10941	N	0.617263	T	0.00496	0.0016	L	0.29908	0.895	0.09310	N	0.999999	B	0.34015	0.435	B	0.28385	0.089	T	0.46843	-0.9162	10	0.62326	D	0.03	.	4.2404	0.10645	0.276:0.3406:0.3835:0.0	.	415	Q6BAA4	FCRLB_HUMAN	I	415	ENSP00000356925:S415I;ENSP00000375999:S415I	ENSP00000356925:S415I	S	+	2	0	FCRLB	159964039	0.120000	0.22244	0.125000	0.21846	0.186000	0.23388	0.092000	0.15066	-0.038000	0.13624	0.462000	0.41574	AGC			0.647	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083585.1		NM_152378	
PBX1	5087	broad.mit.edu	37	1	164815847	164815847	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:164815847delT	ENST00000420696.2	+	9	1415	c.1227delT	c.(1225-1227)actfs	p.T410fs	PBX1_ENST00000540236.1_Intron|PBX1_ENST00000560641.1_Frame_Shift_Del_p.T305fs|PBX1_ENST00000367897.1_3'UTR|PBX1_ENST00000559240.1_Frame_Shift_Del_p.T319fs|PBX1_ENST00000540246.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	410					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGGATGCTACTACCCCTTCAT	0.532			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																p.T409fs				Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	.	PBX1	60		0			c.1227delT												184.0	156.0	166.0					1																	164815847		2203	4300	6503	SO:0001589	frameshift_variant	5087	exon9			TGCTACTACCCCT	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1227delT	1.37:g.164815847delT	ENSP00000405890:p.Thr410fs		Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	252	0.03	7	NM_002585	143	0.00	0	B4DSC1|F5H4U9|Q5T488	Frame_Shift_Del	DEL	ENST00000420696.2	37	CCDS1246.1																																																																																					0.532	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082864.4		NM_002585	
KLHL20	27252	broad.mit.edu	37	1	173743459	173743459	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:173743459G>T	ENST00000209884.4	+	9	1447	c.1311G>T	c.(1309-1311)gaG>gaT	p.E437D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E248D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	437					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATCCGAAGGAGAACAAGTGGA	0.453																																					p.E437D	GBM(159;862 2695 6559 23041)												.	KLHL20	54		0			c.G1311T												249.0	213.0	225.0					1																	173743459		2203	4300	6503	SO:0001583	missense	27252	exon9			GAAGGAGAACAAG	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1311G>T	1.37:g.173743459G>T	ENSP00000209884:p.Glu437Asp		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	172	0.02	3	NM_014458	13	0.00	0	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665704	0.47677	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.78364	-1.17;-1.17	5.27	4.36	0.52297	Galactose oxidase, beta-propeller (1);	0.095389	0.64402	D	0.000001	T	0.52565	0.1742	N	0.25957	0.775	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15052	0.008;0.012	T	0.56019	-0.8048	10	0.54805	T	0.06	.	12.7468	0.57285	0.0807:0.0:0.9193:0.0	.	248;437	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	D	248;437	ENSP00000443121:E248D;ENSP00000209884:E437D	ENSP00000209884:E437D	E	+	3	2	KLHL20	172010082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.742000	0.55097	1.222000	0.43521	0.655000	0.94253	GAG			0.453	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097582.1		NM_014458	
RABGAP1L	9910	broad.mit.edu	37	1	174516980	174516980	+	Missense_Mutation	SNP	G	G	T	rs190670221		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:174516980G>T	ENST00000357444.6	+	14	1886	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	RABGAP1L_ENST00000251507.4_Intron			B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	68										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTAGCAACAGATGAAATTTA	0.318																																					.													.	RABGAP1L	103		0			.																																									SO:0001583	missense	9910	.			GCAACAGATGAAA	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000357444.6:c.1605G>T	1.37:g.174516980G>T	ENSP00000350027:p.Gln535His		Somatic	147	0.0068027211	1		WXS	Illumina HiSeq	Phase_I	229	0.02	5	.	0		0	B7ZAA4	Missense_Mutation	SNP	ENST00000357444.6	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.100	0.776521	0.16120	.	.	ENSG00000152061	ENST00000357444	T	0.69806	-0.43	3.78	-0.477	0.12097	.	.	.	.	.	T	0.50684	0.1630	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43147	-0.9409	8	0.87932	D	0	.	4.0048	0.09597	0.3228:0.1759:0.5013:0.0	.	535	Q5R372-2	.	H	535	ENSP00000350027:Q535H	ENSP00000350027:Q535H	Q	+	3	2	RABGAP1L	172783603	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.136000	0.10405	-0.354000	0.08212	-0.294000	0.09567	CAG			0.318	RABGAP1L-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000084499.1		NM_001243765	
ASTN1	460	broad.mit.edu	37	1	176852036	176852036	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:176852036G>T	ENST00000367654.3	-	20	3556	c.3345C>A	c.(3343-3345)atC>atA	p.I1115I	ASTN1_ENST00000424564.2_Silent_p.I1107I|ASTN1_ENST00000367657.3_Silent_p.I1107I|ASTN1_ENST00000361833.2_Silent_p.I1107I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1115	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATCAGAGAGATGGTGGTGA	0.507																																					p.I1107I													.	ASTN1	314		0			c.C3321A												170.0	144.0	153.0					1																	176852036		2203	4300	6503	SO:0001819	synonymous_variant	460	exon20			CAGAGAGATGGTG	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3345C>A	1.37:g.176852036G>T			Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	246	0.02	4	NM_207108	7	0.00	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																						0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding				NM_004319	
RASAL2	9462	broad.mit.edu	37	1	178426900	178426900	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:178426900G>T	ENST00000462775.1	+	12	2175	c.2050G>T	c.(2050-2052)Gcc>Tcc	p.A684S	RASAL2_ENST00000367649.3_Missense_Mutation_p.A825S|RASAL2_ENST00000448150.3_Missense_Mutation_p.A814S	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	684					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGTTCAGCAAGCCTCCTCTCA	0.463																																					p.A825S													.	RASAL2	334		0			c.G2473T												96.0	92.0	93.0					1																	178426900		2203	4300	6503	SO:0001583	missense	9462	exon14			CAGCAAGCCTCCT	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2050G>T	1.37:g.178426900G>T	ENSP00000420558:p.Ala684Ser		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	191	0.02	4	NM_170692	17	0.00	0	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.906|3.906	-0.021038|-0.021038	0.07634|0.07634	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.12361|.	2.69;2.69;2.69|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.452774|.	0.24436|.	N|.	0.038551|.	T|T	0.32971|0.32971	0.0847|0.0847	N|N	0.02916|0.02916	-0.46|-0.46	0.49299|0.49299	D|D	0.999773|0.999773	B;B;B|.	0.11235|.	0.003;0.003;0.004|.	B;B;B|.	0.16722|.	0.006;0.016;0.005|.	T|T	0.30119|0.30119	-0.9989|-0.9989	10|5	0.07482|.	T|.	0.82|.	.|.	14.9182|14.9182	0.70815|0.70815	0.0:0.0:0.8564:0.1436|0.0:0.0:0.8564:0.1436	.|.	814;684;825|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	S|I	814;825;684|234	ENSP00000407768:A814S;ENSP00000356621:A825S;ENSP00000420558:A684S|.	ENSP00000356621:A825S|.	A|S	+|+	1|2	0|0	RASAL2|RASAL2	176693523|176693523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.735000|1.735000	0.38176|0.38176	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	GCC|AGC			0.463	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000084758.3		NM_170692	
NPHS2	7827	broad.mit.edu	37	1	179533849	179533849	+	Silent	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:179533849A>G	ENST00000367615.4	-	2	422	c.354T>C	c.(352-354)ccT>ccC	p.P118P	NPHS2_ENST00000367616.4_Silent_p.P118P	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	118			P -> L (in NPHS2). {ECO:0000269|PubMed:15253708}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGATGGAAAAAGGGAAGGTCA	0.463																																					p.P118P													.	NPHS2	46		0			c.T354C												77.0	79.0	78.0					1																	179533849		2203	4300	6503	SO:0001819	synonymous_variant	7827	exon2			GGAAAAAGGGAAG	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.354T>C	1.37:g.179533849A>G			Somatic	171	0	0		WXS	Illumina HiSeq	Phase_I	238	0.04	9	NM_014625	0		0	B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	CCDS1331.1																																																																																					0.463	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085283.1			
CEP350	9857	broad.mit.edu	37	1	180063647	180063648	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:180063647_180063648insA	ENST00000367607.3	+	34	8825_8826	c.8407_8408insA	c.(8407-8409)caafs	p.Q2803fs	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2803					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGACCTATCCCAAAATGTTGAG	0.401																																					p.Q2803fs													.	CEP350	418		0			c.8407_8408insA																																									SO:0001589	frameshift_variant	9857	exon34			CTATCCCAAAATG	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8411dupA	1.37:g.180063651_180063651dupA	ENSP00000356579:p.Gln2803fs		Somatic	256	0	0		WXS	Illumina HiSeq	Phase_I	369	0.02	6	NM_014810	16	0.00	0	O75068|Q8TDK3|Q8WY20	Frame_Shift_Ins	INS	ENST00000367607.3	37	CCDS1336.1																																																																																					0.401	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085315.2		NM_014810	
CEP350	9857	broad.mit.edu	37	1	180068046	180068046	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:180068046C>T	ENST00000367607.3	+	37	9533	c.9115C>T	c.(9115-9117)Cca>Tca	p.P3039S	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3039					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAAAAGGAGCCAAACCACAA	0.373																																					p.P3039S													.	CEP350	418		0			c.C9115T												91.0	84.0	86.0					1																	180068046		2203	4300	6503	SO:0001583	missense	9857	exon37			AAGGAGCCAAACC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.9115C>T	1.37:g.180068046C>T	ENSP00000356579:p.Pro3039Ser		Somatic	231	0.0043290043	1		WXS	Illumina HiSeq	Phase_I	318	0.01	4	NM_014810	25	0.00	0	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.324275|2.324275	0.41197|0.41197	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000417046	.|T	.|0.56776	.|0.44	5.54|5.54	2.33|2.33	0.28932|0.28932	.|.	.|0.159990	.|0.29307	.|N	.|0.012522	T|T	0.34745|0.34745	0.0908|0.0908	L|L	0.38838|0.38838	1.175|1.175	0.32542|0.32542	N|N	0.533525|0.533525	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.08055	.|0.002;0.003	T|T	0.24799|0.24799	-1.0150|-1.0150	5|9	.|.	.|.	.|.	.|.	4.1315|4.1315	0.10151|0.10151	0.1265:0.5975:0.1226:0.1535|0.1265:0.5975:0.1226:0.1535	.|.	.|3039;3039	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	V|S	1213|3039;503	.|ENSP00000356579:P3039S	.|.	A|P	+|+	2|1	0|0	CEP350|CEP350	178334669|178334669	0.928000|0.928000	0.31464|0.31464	0.998000|0.998000	0.56505|0.56505	0.980000|0.980000	0.70556|0.70556	1.429000|1.429000	0.34903|0.34903	0.183000|0.183000	0.20059|0.20059	-0.282000|-0.282000	0.10007|0.10007	GCC|CCA			0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085315.2		NM_014810	
LHX4	89884	broad.mit.edu	37	1	180199672	180199672	+	Missense_Mutation	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:180199672A>G	ENST00000263726.2	+	1	252	c.8A>G	c.(7-9)cAg>cGg	p.Q3R		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	3					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GAGATGATGCAGAGTGCGACT	0.522																																					p.Q3R													.	LHX4	36		0			c.A8G												45.0	43.0	44.0					1																	180199672		2202	4300	6502	SO:0001583	missense	89884	exon1			TGATGCAGAGTGC	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.8A>G	1.37:g.180199672A>G	ENSP00000263726:p.Gln3Arg		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	143	0.03	4	NM_033343	0		0	Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976598	0.74360	.	.	ENSG00000121454	ENST00000263726	D	0.88586	-2.4	5.54	5.54	0.83059	.	0.249838	0.36555	N	0.002540	T	0.79203	0.4406	N	0.08118	0	0.48696	D	0.999692	P	0.39094	0.659	B	0.42959	0.403	T	0.77968	-0.2388	10	0.07030	T	0.85	.	14.6412	0.68726	1.0:0.0:0.0:0.0	.	3	Q969G2	LHX4_HUMAN	R	3	ENSP00000263726:Q3R	ENSP00000263726:Q3R	Q	+	2	0	LHX4	178466295	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.210000	0.72176	2.110000	0.64415	0.379000	0.24179	CAG			0.522	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084995.2		NM_033343	
DHX9	1660	broad.mit.edu	37	1	182825677	182825677	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:182825677G>T	ENST00000367549.3	+	7	747	c.637G>T	c.(637-639)Gca>Tca	p.A213S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	213	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGCTTTATTGCAGAAATGAC	0.398																																					p.A213S	Colon(69;210 1162 3697 13559 39565)												.	DHX9	114		0			c.G637T												154.0	149.0	151.0					1																	182825677		1844	4097	5941	SO:0001583	missense	1660	exon7			TTTATTGCAGAAA	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.637G>T	1.37:g.182825677G>T	ENSP00000356520:p.Ala213Ser		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	202	0.03	6	NM_001357	68	0.00	0	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721874	0.89298	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.78003	-1.14	5.97	5.97	0.96955	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.058474	0.64402	D	0.000003	D	0.86883	0.6040	L	0.58428	1.81	0.80722	D	1	P	0.37101	0.582	P	0.57679	0.825	D	0.85342	0.1096	10	0.62326	D	0.03	.	20.0342	0.97551	0.0:0.0:1.0:0.0	.	213	Q08211	DHX9_HUMAN	S	213	ENSP00000356520:A213S	ENSP00000356520:A213S	A	+	1	0	DHX9	181092300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.156000	0.94705	2.834000	0.97654	0.650000	0.86243	GCA			0.398	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085522.2		NM_030588	
KIF21B	23046	broad.mit.edu	37	1	200948728	200948728	+	Silent	SNP	G	G	T	rs553494549	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:200948728G>T	ENST00000422435.2	-	30	4411	c.4095C>A	c.(4093-4095)tcC>tcA	p.S1365S	KIF21B_ENST00000360529.5_Silent_p.S1352S|KIF21B_ENST00000461742.2_Silent_p.S1365S|KIF21B_ENST00000332129.2_Silent_p.S1352S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1365					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGGTGGACACGGAGAACACAA	0.582											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S1365S													.	KIF21B	208		0			c.C4095A												222.0	210.0	214.0					1																	200948728		2203	4300	6503	SO:0001819	synonymous_variant	23046	exon30			GGACACGGAGAAC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4095C>A	1.37:g.200948728G>T			Somatic	164	0	0	2118	WXS	Illumina HiSeq	Phase_I	187	0.03	5	NM_001252102	4	0.00	0	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																					0.582	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000382635.1		XM_371332	
CHIT1	1118	broad.mit.edu	37	1	203198779	203198779	+	5'UTR	SNP	G	G	A	rs377270886		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:203198779G>A	ENST00000367229.1	-	0	20				CHIT1_ENST00000535569.1_Missense_Mutation_p.P6S|CHIT1_ENST00000255427.3_5'UTR|CHIT1_ENST00000484834.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)						chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGCTCAGCGGCAGGCTGCAG	0.622																																					.													.	CHIT1	61		0			.												77.0	67.0	70.0					1																	203198779		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1118	.			TCAGCGGCAGGCT	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.-15C>T	1.37:g.203198779G>A			Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	237	0.02	4	.	0		0	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151260	0.21371	.	.	ENSG00000133063	ENST00000535569	T	0.05786	3.39	3.19	-0.381	0.12485	.	.	.	.	.	T	0.02380	0.0073	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47898	-0.9081	8	0.08179	T	0.78	-7.359	3.3114	0.07017	0.2569:0.2333:0.5098:0.0	.	6	G5EA51	.	S	6	ENSP00000438078:P6S	ENSP00000438078:P6S	P	-	1	0	CHIT1	201465402	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.693000	0.01917	0.141000	0.18875	0.411000	0.27672	CCG			0.622	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000100275.2		NM_003465	
PLEKHA6	22874	broad.mit.edu	37	1	204192650	204192651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:204192650_204192651insG	ENST00000272203.3	-	22	3410_3411	c.3094_3095insC	c.(3094-3096)ctgfs	p.L1032fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Ins_p.L1052fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1032										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTCAGACGACAGGGGGTTTGCT	0.589																																					p.L1032fs													.	PLEKHA6	115		0			c.3095_3096insC																																									SO:0001589	frameshift_variant	22874	exon22			GACGACAGGGGGT	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.3095dupC	1.37:g.204192655_204192655dupG	ENSP00000272203:p.Leu1032fs		Somatic	216	0	0		WXS	Illumina HiSeq	Phase_I	248	0.03	7	NM_014935	2	0.00	0	A7MD51|Q5VTI6	Frame_Shift_Ins	INS	ENST00000272203.3	37	CCDS1444.1																																																																																					0.589	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087889.3		NM_014935	
NUAK2	81788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	205274386	205274386	+	Missense_Mutation	SNP	T	T	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:205274386T>A	ENST00000367157.3	-	6	890	c.764A>T	c.(763-765)cAt>cTt	p.H255L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TAGGATCTTATGGTCATGCCC	0.577																																					p.H255L													.	.			0			c.A764T												100.0	85.0	90.0					1																	205274386		2203	4300	6503	SO:0001583	missense	81788	exon6			ATCTTATGGTCAT	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.764A>T	1.37:g.205274386T>A	ENSP00000356125:p.His255Leu		Somatic	72	0	0		WXS	Illumina HiSeq	.	97	0.14	14	NM_030952	4	0.00	0		Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232678	0.22626	.	.	ENSG00000163545	ENST00000367157	T	0.64803	-0.12	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.149393	0.31020	N	0.008401	T	0.33614	0.0869	N	0.00966	-1.09	0.46927	D	0.999252	P	0.43578	0.811	B	0.43838	0.433	T	0.52049	-0.8627	10	0.02654	T	1	.	15.683	0.77388	0.0:0.0:0.0:1.0	.	255	Q9H093	NUAK2_HUMAN	L	255	ENSP00000356125:H255L	ENSP00000356125:H255L	H	-	2	0	NUAK2	203541009	1.000000	0.71417	0.987000	0.45799	0.734000	0.41952	8.040000	0.89188	2.188000	0.69820	0.459000	0.35465	CAT			0.577	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090390.1		NM_030952	
RASSF5	83593	mdanderson.org	37	1	206681029	206681029	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:206681029G>T	ENST00000355294.4	+	1	151	c.94G>T	c.(94-96)Gag>Tag	p.E32*	RASSF5_ENST00000367117.3_Nonsense_Mutation_p.E32*	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	32					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGCGGCCCCGAGCTACCGCC	0.781																																					p.E32X	GBM(162;656 1984 11916 22872 31529)												.	.			0			c.G94T												2.0	2.0	2.0					1																	206681029		1302	3026	4328	SO:0001587	stop_gained	83593	exon1			GGCCCCGAGCTAC	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.94G>T	1.37:g.206681029G>T	ENSP00000347443:p.Glu32*		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_182663	1	0.00	0	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Nonsense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693626	0.68386	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	.	.	.	3.77	1.79	0.24919	.	0.096756	0.39615	U	0.001307	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.1349	6.7263	0.23359	0.1037:0.1783:0.718:0.0	.	.	.	.	X	32	.	ENSP00000342620:E32X	E	+	1	0	RASSF5	204747652	0.709000	0.27886	0.233000	0.24025	0.027000	0.11550	1.103000	0.31062	0.336000	0.23639	0.467000	0.42956	GAG			0.781	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088469.1		NM_031437	
LAMB3	3914	broad.mit.edu	37	1	209805963	209805963	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:209805963G>T	ENST00000356082.4	-	8	921	c.787C>A	c.(787-789)Cct>Act	p.P263T	LAMB3_ENST00000367030.3_Missense_Mutation_p.P263T|LAMB3_ENST00000391911.1_Missense_Mutation_p.P263T	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	263	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GAGGCCCCAGGCTTGGGTGCG	0.642																																					p.P263T													.	LAMB3	136		0			c.C787A												35.0	40.0	39.0					1																	209805963		2203	4300	6503	SO:0001583	missense	3914	exon8			CCCCAGGCTTGGG	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.787C>A	1.37:g.209805963G>T	ENSP00000348384:p.Pro263Thr		Somatic	196	0.0051020408	1		WXS	Illumina HiSeq	Phase_I	276	0.02	5	NM_000228	6	0.00	0	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	8.276	0.814565	0.16607	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.35789	1.29;1.29;1.29	4.59	3.65	0.41850	EGF-like, laminin (3);	0.670270	0.15143	N	0.278171	T	0.21509	0.0518	N	0.17278	0.47	0.23314	N	0.997929	B;B	0.28470	0.029;0.213	B;B	0.35182	0.015;0.197	T	0.28618	-1.0038	10	0.13470	T	0.59	.	6.0644	0.19856	0.1067:0.1905:0.7028:0.0	.	263;263	B4DL55;Q13751	.;LAMB3_HUMAN	T	263	ENSP00000375778:P263T;ENSP00000348384:P263T;ENSP00000355997:P263T	ENSP00000348384:P263T	P	-	1	0	LAMB3	207872586	0.075000	0.21258	0.274000	0.24659	0.086000	0.17979	0.446000	0.21694	1.258000	0.44101	0.555000	0.69702	CCT			0.642	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088525.2		NM_000228	
GPATCH2	55105	broad.mit.edu	37	1	217604630	217604630	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:217604630G>T	ENST00000366935.3	-	10	1554	c.1444C>A	c.(1444-1446)Cct>Act	p.P482T		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	482	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.P482S(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTGACCCAGGCGTCCAGCCC	0.463																																					p.P482T													GPATCH2,NS,carcinoma,0,1	GPATCH2	53	1	1	Substitution - Missense(1)	ovary(1)	c.C1444A												115.0	118.0	117.0					1																	217604630		2203	4300	6503	SO:0001583	missense	55105	exon10			ACCCAGGCGTCCA	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1444C>A	1.37:g.217604630G>T	ENSP00000355902:p.Pro482Thr		Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	296	0.01	4	NM_018040	13	0.00	0	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788336	0.90367	.	.	ENSG00000092978	ENST00000366935	T	0.39229	1.09	5.83	5.83	0.93111	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	L	0.61036	1.89	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.65146	-0.6239	10	0.72032	D	0.01	.	20.111	0.97911	0.0:0.0:1.0:0.0	.	482	Q9NW75	GPTC2_HUMAN	T	482	ENSP00000355902:P482T	ENSP00000355902:P482T	P	-	1	0	GPATCH2	215671253	1.000000	0.71417	0.576000	0.28549	0.942000	0.58702	8.805000	0.91925	2.747000	0.94245	0.650000	0.86243	CCT			0.463	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001272.1		NM_018040	
HLX	3142	broad.mit.edu	37	1	221054601	221054602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:221054601_221054602insC	ENST00000366903.6	+	2	2159_2160	c.658_659insC	c.(658-660)gccfs	p.A220fs	HLX_ENST00000549319.1_5'UTR|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	220					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCAGCCCTCGGCCGGCCAGTTC	0.554																																					p.A220fs													.	HLX	67		0			c.658_659insC																																									SO:0001589	frameshift_variant	3142	exon2			CCCTCGGCCGGCC	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.660dupC	1.37:g.221054603_221054603dupC	ENSP00000355870:p.Ala220fs		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	271	0.03	8	NM_021958	5	0.00	0	B2R8A8|Q15988|Q59HE7|Q9NZ75	Frame_Shift_Ins	INS	ENST00000366903.6	37	CCDS1527.1																																																																																					0.554	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090902.3		NM_021958	
HLX	3142	broad.mit.edu	37	1	221057861	221057861	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:221057861G>A	ENST00000366903.6	+	4	2783	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S	HLX_ENST00000549319.1_Missense_Mutation_p.G214S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	428	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G431delG(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		tgggagcagcggcggcggcgg	0.642																																					p.G428S													.	HLX	67		1	Deletion - In frame(1)	large_intestine(1)	c.G1282A												25.0	24.0	25.0					1																	221057861		2203	4300	6503	SO:0001583	missense	3142	exon4			AGCAGCGGCGGCG	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1282G>A	1.37:g.221057861G>A	ENSP00000355870:p.Gly428Ser		Somatic	73	0.0136986301	1		WXS	Illumina HiSeq	Phase_I	88	0.03	3	NM_021958	12	0.00	0	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198731	0.38806	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91996	-2.65;-2.95	2.86	-0.687	0.11320	.	0.951617	0.08586	N	0.923819	T	0.78483	0.4290	N	0.14661	0.345	0.23320	N	0.997912	B	0.10296	0.003	B	0.06405	0.002	T	0.65689	-0.6107	10	0.02654	T	1	.	3.3157	0.07032	0.4133:0.2112:0.3755:0.0	.	428	Q14774	HLX_HUMAN	S	428;214	ENSP00000355870:G428S;ENSP00000449882:G214S	ENSP00000355870:G428S	G	+	1	0	HLX	219124484	0.977000	0.34250	0.038000	0.18304	0.016000	0.09150	1.135000	0.31454	0.081000	0.16988	-0.291000	0.09656	GGC			0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090902.3		NM_021958	
DNAH14	127602	broad.mit.edu	37	1	225492761	225492761	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:225492761G>T	ENST00000445597.2	+	38	6737	c.6737G>T	c.(6736-6738)aGg>aTg	p.R2246M	DNAH14_ENST00000439375.2_Missense_Mutation_p.R2899M|DNAH14_ENST00000430092.1_Missense_Mutation_p.R2899M			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2246					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						CACATTTTGAGGGCACGAGAG	0.323																																					p.R2899M													.	DNAH14	300		0			c.G8696T												39.0	34.0	35.0					1																	225492761		692	1591	2283	SO:0001583	missense	127602	exon56			TTTTGAGGGCACG	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.6737G>T	1.37:g.225492761G>T	ENSP00000409472:p.Arg2246Met		Somatic	385	0	0		WXS	Illumina HiSeq	Phase_I	589	0.01	4	NM_001373	0		0	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	37		.	.	.	.	.	.	.	.	.	.	G	11.81	1.748812	0.30955	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.31247	2.52;1.5;1.5	5.9	-6.94	0.01633	.	0.677909	0.12791	N	0.438850	T	0.38054	0.1026	M	0.64567	1.98	0.09310	N	0.999999	D	0.59767	0.986	P	0.56216	0.794	T	0.38394	-0.9663	10	0.51188	T	0.08	.	11.7957	0.52098	0.7833:0.099:0.1178:0.0	.	2899	Q0VDD8-4	.	M	2246;2899;2899	ENSP00000409472:R2246M;ENSP00000414402:R2899M;ENSP00000392061:R2899M	ENSP00000414402:R2899M	R	+	2	0	DNAH14	223559384	0.011000	0.17503	0.001000	0.08648	0.098000	0.18820	0.196000	0.17176	-1.387000	0.02095	-0.357000	0.07601	AGG			0.323	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000331217.3		XM_059166	
ZNF678	339500	broad.mit.edu	37	1	227842069	227842069	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:227842069C>T	ENST00000343776.5	+	4	463	c.118C>T	c.(118-120)Cca>Tca	p.P40S	ZNF678_ENST00000397097.3_Missense_Mutation_p.P95S|ZNF678_ENST00000608949.1_Missense_Mutation_p.P40S	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AGACCTTTTGCCAGAGCAGGA	0.328																																					p.P95S													.	ZNF678	137		0			c.C283T												89.0	98.0	95.0					1																	227842069		2202	4299	6501	SO:0001583	missense	339500	exon4			CTTTTGCCAGAGC	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.118C>T	1.37:g.227842069C>T	ENSP00000344828:p.Pro40Ser		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	311	0.02	5	NM_178549	3	0.00	0	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	C	9.926	1.213601	0.22289	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.05513	3.43;3.55;3.64	0.499	-0.591	0.11675	.	.	.	.	.	T	0.14614	0.0353	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13845	-1.0494	8	0.51188	T	0.08	.	.	.	.	.	40	Q5SXM1	ZN678_HUMAN	S	40;95;95	ENSP00000344828:P40S;ENSP00000440403:P95S;ENSP00000394651:P95S	ENSP00000344828:P40S	P	+	1	0	ZNF678	225908692	0.001000	0.12720	0.062000	0.19696	0.068000	0.16541	-0.871000	0.04223	-0.350000	0.08262	-0.351000	0.07748	CCA			0.328	ZNF678-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000091976.2		NM_178549	
ARF1	375	broad.mit.edu	37	1	228285565	228285565	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:228285565G>T	ENST00000541182.1	+	5	659	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.A133S|C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000540651.1_Missense_Mutation_p.A133S|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTCCCCAACGCCATGAATGC	0.642																																					p.A133S													.	ARF1	24		0			c.G397T												62.0	65.0	64.0					1																	228285565		2203	4300	6503	SO:0001583	missense	375	exon5			CCCAACGCCATGA	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.397G>T	1.37:g.228285565G>T	ENSP00000440005:p.Ala133Ser		Somatic	232	0	0		WXS	Illumina HiSeq	Phase_I	301	0.01	3	NM_001024228	1082	0.00	0	P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829229	0.90955	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.68765	-0.35;-0.35;-0.35	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.78622	0.4312	M	0.71036	2.16	0.80722	D	1	B	0.28291	0.206	P	0.45971	0.499	T	0.77619	-0.2520	10	0.66056	D	0.02	-16.8817	19.4067	0.94649	0.0:0.0:1.0:0.0	.	133	P84077	ARF1_HUMAN	S	133;133;124;133	ENSP00000272102:A133S;ENSP00000442980:A133S;ENSP00000440005:A133S	ENSP00000272102:A133S	A	+	1	0	ARF1	226352188	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.427000	0.97472	2.826000	0.97356	0.491000	0.48974	GCC			0.642	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091650.1		NM_001024227	
OBSCN	84033	broad.mit.edu	37	1	228529821	228529821	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:228529821G>T	ENST00000422127.1	+	75	18080	c.18036G>T	c.(18034-18036)cgG>cgT	p.R6012R	OBSCN_ENST00000570156.2_Splice_Site_p.R6969R|OBSCN_ENST00000366707.4_Splice_Site_p.R3646R|OBSCN_ENST00000284548.11_Splice_Site_p.R6012R|OBSCN_ENST00000366709.4_Splice_Site_p.R3131R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6012					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTCCTCAGGGCCCCCGGACT	0.667																																					p.R6969R													.	OBSCN	2142		0			c.G20907T												15.0	19.0	18.0					1																	228529821		1967	4128	6095	SO:0001630	splice_region_variant	84033	exon86			CTCAGGGCCCCCG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18035-1G>T	1.37:g.228529821G>T			Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	210	0.01	3	NM_001271223	15	0.00	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.792097	0.00623	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.22435	N	0.999103	.	.	.	.	.	.	T	0.07731	-1.0757	4	.	.	.	.	3.5393	0.07806	0.1404:0.3333:0.3252:0.201	.	.	.	.	S	629	.	.	A	+	1	0	OBSCN	226596444	0.000000	0.05858	0.001000	0.08648	0.536000	0.34869	-2.029000	0.01430	-2.843000	0.00334	-0.312000	0.09012	GCC			0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843	Silent
ACTA1	58	broad.mit.edu	37	1	229568835	229568835	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:229568835G>T	ENST00000366684.3	-	2	130	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	ACTA1_ENST00000366683.2_Missense_Mutation_p.L10I	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	10					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TCGCACACGAGGGCGGTGGTC	0.657																																					p.L10I													.	ACTA1	65		0			c.C28A												64.0	66.0	65.0					1																	229568835		2203	4300	6503	SO:0001583	missense	58	exon2			ACACGAGGGCGGT	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.28C>A	1.37:g.229568835G>T	ENSP00000355645:p.Leu10Ile		Somatic	193	0.0051813472	1		WXS	Illumina HiSeq	Phase_I	298	0.01	3	NM_001100	34	0.00	0	P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231335	0.58777	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.96802	-4.13;-3.46	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	D	0.91348	0.7271	N	0.12887	0.27	0.30033	N	0.813267	B	0.06786	0.001	B	0.29077	0.098	D	0.87482	0.2421	10	0.87932	D	0	.	10.3318	0.43827	0.0915:0.0:0.9085:0.0	.	10	P68133	ACTS_HUMAN	I	10	ENSP00000355645:L10I;ENSP00000355644:L10I	ENSP00000312351:L10I	L	-	1	0	ACTA1	227635458	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	6.548000	0.73896	2.476000	0.83614	0.655000	0.94253	CTC			0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092781.1		NM_001100	
C1orf198	84886	broad.mit.edu	37	1	230979534	230979534	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:230979534G>T	ENST00000366663.5	-	3	633	c.493C>A	c.(493-495)Ctc>Atc	p.L165I	C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Missense_Mutation_p.L35I|C1orf198_ENST00000470540.1_Missense_Mutation_p.L127I	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	165						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGGACTTGAGGGCCTGGGAG	0.642																																					p.L165I													.	C1orf198	29		0			c.C493A												84.0	96.0	92.0					1																	230979534		2203	4300	6503	SO:0001583	missense	84886	exon3			ACTTGAGGGCCTG	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.493C>A	1.37:g.230979534G>T	ENSP00000355623:p.Leu165Ile		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	128	0.03	4	NM_032800	19	0.00	0	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610574	0.28712	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.30981	1.53;1.53;1.51	4.45	-0.69	0.11309	.	0.828007	0.10339	N	0.686583	T	0.19565	0.0470	L	0.44542	1.39	0.09310	N	1	B	0.25667	0.131	B	0.22601	0.04	T	0.29701	-1.0003	10	0.42905	T	0.14	-12.5138	0.7411	0.00974	0.2633:0.1241:0.3636:0.2489	.	165	Q9H425	CA198_HUMAN	I	165;127;35;122	ENSP00000355623:L165I;ENSP00000428172:L127I;ENSP00000430967:L35I	ENSP00000355623:L165I	L	-	1	0	C1orf198	229046157	0.710000	0.27896	0.765000	0.31456	0.973000	0.67179	0.153000	0.16323	0.237000	0.21200	0.462000	0.41574	CTC			0.642	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092236.2		NM_032800	
LYST	1130	broad.mit.edu	37	1	235922556	235922556	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:235922556C>T	ENST00000389794.3	-	23	6771	c.6597G>A	c.(6595-6597)gtG>gtA	p.V2199V	LYST_ENST00000389793.2_Silent_p.V2199V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2199					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTTTGACCACTGGAAATC	0.512																																					p.V2199V													.	LYST	370		0			c.G6597A												138.0	135.0	136.0					1																	235922556		2203	4300	6503	SO:0001819	synonymous_variant	1130	exon23			TTTGACCACTGGA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6597G>A	1.37:g.235922556C>T			Somatic	170	0.0058823529	1		WXS	Illumina HiSeq	Phase_I	259	0.01	3	NM_000081	0		0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																					0.512	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097533.5			
ADSS	159	broad.mit.edu	37	1	244615013	244615013	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:244615013G>T	ENST00000366535.3	-	1	423	c.107C>A	c.(106-108)gCg>gAg	p.A36E		NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			GCCCCACTGCGCACCGAGCAC	0.716																																					p.A36E													.	ADSS	49		0			c.C107A												34.0	28.0	30.0					1																	244615013		2202	4299	6501	SO:0001583	missense	159	exon1			CACTGCGCACCGA	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.107C>A	1.37:g.244615013G>T	ENSP00000355493:p.Ala36Glu		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	220	0.02	4	NM_001126	54	0.00	0		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498457	0.85069	.	.	ENSG00000035687	ENST00000366535	T	0.49432	0.78	5.27	4.34	0.51931	.	0.048451	0.85682	D	0.000000	T	0.74366	0.3707	M	0.91459	3.21	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.81720	-0.0804	10	0.87932	D	0	-4.5963	15.3947	0.74781	0.0:0.1404:0.8596:0.0	.	36	P30520	PURA2_HUMAN	E	36	ENSP00000355493:A36E	ENSP00000355493:A36E	A	-	2	0	ADSS	242681636	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	8.889000	0.92470	1.190000	0.43042	0.655000	0.94253	GCG			0.716	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096697.1		NM_001126	
LARP4B	23185	broad.mit.edu;bcgsc.ca	37	10	871022	871031	+	Frame_Shift_Del	DEL	AGGAGAGGAT	AGGAGAGGAT	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	AGGAGAGGAT	AGGAGAGGAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:871022_871031delAGGAGAGGAT	ENST00000316157.3	-	12	1498_1507	c.1458_1467delATCCTCTCCT	c.(1456-1467)gaatcctctcctfs	p.ESSP486fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	486					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCCCTAAACCAGGAGAGGATTCGAGACTGC	0.419																																					p.486_489del													.	LARP4B	110		0			c.1458_1467del																																									SO:0001589	frameshift_variant	23185	exon13			TAAACCAGGAGAG	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1458_1467delATCCTCTCCT	10.37:g.871022_871031delAGGAGAGGAT	ENSP00000326128:p.Glu486fs		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	37	0.27	10	NM_015155	15	0.00	0	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	ENST00000316157.3	37	CCDS31131.1																																																																																					0.419	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046395.2		NM_015155	
LARP4B	23185	hgsc.bcm.edu;bcgsc.ca	37	10	871042	871045	+	Frame_Shift_Del	DEL	CTGG	CTGG	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	CTGG	CTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:871042_871045delCTGG	ENST00000316157.3	-	12	1484_1487	c.1444_1447delCCAG	c.(1444-1449)ccaggcfs	p.PG482fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	482					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCGAGACTGCCTGGCTCCACACGC	0.451																																					p.482_483del													.	LARP4B	110		0			c.1445_1448del																																									SO:0001589	frameshift_variant	23185	exon13			GACTGCCTGGCTC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1444_1447delCCAG	10.37:g.871042_871045delCTGG	ENSP00000326128:p.Pro482fs		Somatic	68	0	0		WXS	Illumina HiSeq	.	53	0.36	19	NM_015155	6	0.00	0	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	ENST00000316157.3	37	CCDS31131.1																																																																																					0.451	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046395.2		NM_015155	
MASTL	84930	broad.mit.edu	37	10	27475370	27475370	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:27475370C>T	ENST00000375940.4	+	12	2602	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S	MASTL_ENST00000342386.6_Missense_Mutation_p.P810S|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.P848S			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	849	AGC-kinase C-terminal.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGACTATGCCTTTCATCCC	0.408																																					p.P849S													.	MASTL	81		0			c.C2545T												159.0	146.0	151.0					10																	27475370		2203	4300	6503	SO:0001583	missense	84930	exon12			ACTATGCCTTTCA	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2545C>T	10.37:g.27475370C>T	ENSP00000365107:p.Pro849Ser		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	182	0.03	5	NM_001172303	89	0.00	0	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482401	0.96307	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.21361	2.01;2.01;2.01	5.63	5.63	0.86233	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	M	0.66297	2.02	0.80722	D	1	D;P;D	0.89917	0.957;0.93;1.0	P;P;D	0.91635	0.59;0.496;0.999	T	0.35871	-0.9771	10	0.52906	T	0.07	-23.7638	19.6846	0.95976	0.0:1.0:0.0:0.0	.	810;849;848	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	S	848;810;849	ENSP00000365113:P848S;ENSP00000343446:P810S;ENSP00000365107:P849S	ENSP00000343446:P810S	P	+	1	0	MASTL	27515376	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.511000	0.81718	2.644000	0.89710	0.655000	0.94253	CCT			0.408	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047320.1		NM_032844	
SVIL	6840	broad.mit.edu	37	10	29754613	29754613	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:29754613G>T	ENST00000355867.4	-	34	6796	c.6044C>A	c.(6043-6045)gCc>gAc	p.A2015D	PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.A2015D|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.A1589D|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.A929D|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2015					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACTCTGTGGCTGCAAAATC	0.547																																					p.A2015D													.	SVIL	226		0			c.C6044A												35.0	39.0	38.0					10																	29754613		2203	4300	6503	SO:0001583	missense	6840	exon34			TCTGTGGCTGCAA	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6044C>A	10.37:g.29754613G>T	ENSP00000348128:p.Ala2015Asp		Somatic	358	0.0055865922	2		WXS	Illumina HiSeq	Phase_I	329	0.01	3	NM_021738	23	0.00	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000226	0.54147	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	4.72	4.72	0.59763	.	0.046770	0.85682	D	0.000000	T	0.65933	0.2739	M	0.87180	2.865	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.974	D;D;P	0.78314	0.991;0.984;0.837	T	0.72350	-0.4320	10	0.56958	D	0.05	-21.7733	17.8597	0.88777	0.0:0.0:1.0:0.0	.	929;1589;2015	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	D	1589;2015;2015;929	ENSP00000364549:A1589D;ENSP00000364547:A2015D;ENSP00000348128:A2015D;ENSP00000445472:A929D	ENSP00000348128:A2015D	A	-	2	0	SVIL	29794619	1.000000	0.71417	0.982000	0.44146	0.012000	0.07955	5.987000	0.70571	2.428000	0.82296	0.650000	0.86243	GCC			0.547	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047395.1			
SVIL	6840	broad.mit.edu	37	10	29812745	29812745	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:29812745G>T	ENST00000355867.4	-	15	3550	c.2798C>A	c.(2797-2799)cCt>cAt	p.P933H	SVIL_ENST00000375398.2_Missense_Mutation_p.P933H|SVIL_ENST00000375400.3_Missense_Mutation_p.P507H|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	933					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTCTACCAAAGGCTGCCAAGC	0.443																																					p.P933H													.	SVIL	226		0			c.C2798A												181.0	160.0	167.0					10																	29812745		2203	4300	6503	SO:0001583	missense	6840	exon15			ACCAAAGGCTGCC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2798C>A	10.37:g.29812745G>T	ENSP00000348128:p.Pro933His		Somatic	182	0	0		WXS	Illumina HiSeq	Phase_I	137	0.04	5	NM_021738	3	0.00	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397897	0.42512	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.12465	2.68;2.7;2.7	5.57	4.67	0.58626	.	0.193739	0.45606	D	0.000345	T	0.34745	0.0908	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	T	0.05517	-1.0880	9	.	.	.	-6.9752	12.6851	0.56944	0.0759:0.0:0.9241:0.0	.	507;933	O95425-2;O95425	.;SVIL_HUMAN	H	507;933;933	ENSP00000364549:P507H;ENSP00000364547:P933H;ENSP00000348128:P933H	.	P	-	2	0	SVIL	29852751	1.000000	0.71417	0.862000	0.33874	0.066000	0.16364	4.233000	0.58651	1.362000	0.46000	0.655000	0.94253	CCT			0.443	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047395.1			
SVIL	6840	hgsc.bcm.edu	37	10	29813507	29813508	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:29813507_29813508insG	ENST00000355867.4	-	14	3231_3232	c.2479_2480insC	c.(2479-2481)cagfs	p.Q827fs	SVIL_ENST00000375398.2_Frame_Shift_Ins_p.Q827fs|SVIL_ENST00000375400.3_Frame_Shift_Ins_p.Q401fs|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	827					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAGACTGGCTGGGACAATTTG	0.495																																					p.Q827fs													.	SVIL	226		0			c.2480_2481insC																																									SO:0001589	frameshift_variant	6840	exon14			ACTGGCTGGGACA	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2480dupC	10.37:g.29813510_29813510dupG	ENSP00000348128:p.Gln827fs		Somatic	167	0	0		WXS	Illumina HiSeq	.	171	0.06	10	NM_021738	1	0.00	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Ins	INS	ENST00000355867.4	37	CCDS7164.1																																																																																					0.495	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047395.1			
ANXA8L1	728113	broad.mit.edu	37	10	47756087	47756087	+	Missense_Mutation	SNP	G	G	A	rs138417320		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:47756087G>A	ENST00000374277.5	+	7	669	c.547G>A	c.(547-549)Gca>Aca	p.A183T	ANXA8L2_ENST00000538825.1_Missense_Mutation_p.A121T|AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000449464.2_3'UTR|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.A164T	NM_001630.2	NP_001621.2														endometrium(1)|pancreas(1)	2						CCTCCAAGACGCACAGGTGAG	0.652																																					p.A183T													.	ANXA8L2	8		0			c.G547A							G	THR/ALA	1,4395		0,1,2197	136.0	144.0	141.0		547	1.8	1.0	10	dbSNP_134	141	0,8600		0,0,4300	no	missense	ANXA8L2	NM_001630.2	58	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	183/328	47756087	1,12995	2198	4300	6498	SO:0001583	missense	244	exon7			CAAGACGCACAGG																												ENST00000374277.5:c.547G>A	10.37:g.47756087G>A	ENSP00000363395:p.Ala183Thr		Somatic	815	0.0061349693	5		WXS	Illumina HiSeq	Phase_I	852	0.01	11	NM_001630	2	0.00	0		Missense_Mutation	SNP	ENST00000374277.5	37	CCDS7216.1	.	.	.	.	.	.	.	.	.	.	.	14.68	2.606814	0.46527	2.27E-4	0.0	ENSG00000186807	ENST00000340243;ENST00000374277;ENST00000538825	T;T;T	0.09538	2.97;2.97;2.97	1.76	1.76	0.24704	.	0.000000	0.64402	D	0.000013	T	0.35537	0.0935	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.991	T	0.28332	-1.0047	10	0.87932	D	0	.	7.1177	0.25427	0.0:0.0:1.0:0.0	.	126;164;183	B4DTF2;Q5VT79-2;Q5VT79	.;.;AXA82_HUMAN	T	164;183;121	ENSP00000339264:A164T;ENSP00000363395:A183T;ENSP00000440742:A121T	ENSP00000339264:A164T	A	+	1	0	ANXA8L2	47226093	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.826000	0.62715	1.340000	0.45581	0.274000	0.19336	GCA			0.652	ANXA8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047866.1			
PCDH15	65217	broad.mit.edu	37	10	55568542	55568542	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:55568542G>T	ENST00000395445.1	-	36	5662	c.5268C>A	c.(5266-5268)ggC>ggA	p.G1756G	PCDH15_ENST00000395440.1_Silent_p.G690G|PCDH15_ENST00000395446.1_Silent_p.G952G|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.G621G|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTACCTGATAGCCCCATGGAC	0.478										HNSCC(58;0.16)																											.													.	PCDH15	1715		0			.												131.0	108.0	115.0					10																	55568542		1568	3582	5150	SO:0001819	synonymous_variant	65217	.			CTGATAGCCCCAT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5268C>A	10.37:g.55568542G>T			Somatic	232	0.0129310345	3		WXS	Illumina HiSeq	Phase_I	190	0.02	3	.	0		0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37																																																																																						0.478	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000291335.1		NM_033056	
ANK3	288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	61815643	61815643	+	Missense_Mutation	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:61815643T>C	ENST00000280772.2	-	42	13029	c.12838A>G	c.(12838-12840)Aag>Gag	p.K4280E	ANK3_ENST00000355288.2_Missense_Mutation_p.K904E|ANK3_ENST00000503366.1_Missense_Mutation_p.K1771E|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000373827.2_Missense_Mutation_p.K1764E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4280					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAGTTTCCTTGGTACTCTGT	0.388																																					p.K4280E													.	.			0			c.A12838G												215.0	211.0	212.0					10																	61815643		2203	4300	6503	SO:0001583	missense	288	exon42			TTTCCTTGGTACT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12838A>G	10.37:g.61815643T>C	ENSP00000280772:p.Lys4280Glu		Somatic	143	0	0		WXS	Illumina HiSeq	.	120	0.53	63	NM_020987	14	0.50	7	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047484	0.75846	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.72282	-0.3;-0.64;0.41;0.42;0.14;-0.63	6.03	6.03	0.97812	.	0.000000	0.44285	D	0.000477	T	0.73768	0.3629	N	0.24115	0.695	0.80722	D	1	B;B;B;P;B;B;D	0.58268	0.256;0.088;0.256;0.94;0.062;0.088;0.982	B;B;B;P;B;B;D	0.67548	0.037;0.023;0.037;0.761;0.051;0.023;0.952	T	0.71447	-0.4590	10	0.25751	T	0.34	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1771;904;1764;4280;1005;904;303	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	E	4280;1764;362;52;904;1771;1750;1005	ENSP00000280772:K4280E;ENSP00000362933:K1764E;ENSP00000362926:K362E;ENSP00000423057:K52E;ENSP00000347436:K904E;ENSP00000425236:K1771E	ENSP00000280772:K4280E	K	-	1	0	ANK3	61485649	1.000000	0.71417	0.912000	0.35992	0.798000	0.45092	3.823000	0.55715	2.313000	0.78055	0.454000	0.30748	AAG			0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048201.4		NM_020987	
DLG5	9231	mdanderson.org	37	10	79613279	79613279	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:79613279G>T	ENST00000372391.2	-	5	702	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	DLG5_ENST00000372388.2_Missense_Mutation_p.L233I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	233					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCACTCAGGAGCCGGCTGTGG	0.647																																					p.L233I													.	.			0			c.C697A												38.0	32.0	34.0					10																	79613279		2203	4300	6503	SO:0001583	missense	9231	exon5			TCAGGAGCCGGCT	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.697C>A	10.37:g.79613279G>T	ENSP00000361467:p.Leu233Ile		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	21	0.10	2	NM_004747	0		0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658949	0.47467	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.05717	3.4;3.4	4.6	4.6	0.57074	.	0.000000	0.33364	N	0.004986	T	0.06645	0.0170	L	0.51422	1.61	0.27257	N	0.958746	P	0.51057	0.941	B	0.36244	0.22	T	0.30327	-0.9982	10	0.42905	T	0.14	.	12.8541	0.57876	0.0:0.0:0.8369:0.1631	.	233	Q8TDM6	DLG5_HUMAN	I	233	ENSP00000361467:L233I;ENSP00000361464:L233I	ENSP00000361464:L233I	L	-	1	0	DLG5	79283285	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.697000	0.61782	2.266000	0.75297	0.655000	0.94253	CTC			0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048900.2			
PLCE1	51196	broad.mit.edu	37	10	95791638	95791638	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:95791638G>T	ENST00000371380.3	+	1	1070	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	PLCE1_ENST00000260766.3_Missense_Mutation_p.G279C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	279					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGTATATTCAGGTGATAGCTT	0.388																																					p.G279C													.	PLCE1	543		0			c.G835T												138.0	131.0	133.0					10																	95791638		1899	4114	6013	SO:0001583	missense	51196	exon2			TATTCAGGTGATA		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.835G>T	10.37:g.95791638G>T	ENSP00000360431:p.Gly279Cys		Somatic	230	0.0086956522	2		WXS	Illumina HiSeq	Phase_I	225	0.02	5	NM_016341	0		0	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	g	4.245	0.044405	0.08196	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.38887	1.11;1.11	4.98	0.138	0.14793	Ras guanine nucleotide exchange factor, domain (1);	0.620691	0.15304	N	0.269482	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	0.999999	P;P	0.40660	0.726;0.726	B;B	0.32980	0.156;0.156	T	0.09818	-1.0657	10	0.56958	D	0.05	.	8.9409	0.35729	0.5196:0.0:0.4804:0.0	.	279;279	B7ZM61;Q9P212	.;PLCE1_HUMAN	C	279	ENSP00000260766:G279C;ENSP00000360431:G279C	ENSP00000260766:G279C	G	+	1	0	PLCE1	95781628	0.620000	0.27068	0.223000	0.23860	0.003000	0.03518	0.256000	0.18351	0.049000	0.15920	-0.285000	0.09966	GGT			0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049469.3		NM_016341	
PDLIM1	9124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	96997861	96997861	+	Missense_Mutation	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:96997861A>G	ENST00000329399.6	-	7	919	c.811T>C	c.(811-813)Ttt>Ctt	p.F271L	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	271	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AGCTTCACAAACACACCACTA	0.572																																					p.F271L													.	.			0			c.T811C												56.0	48.0	51.0					10																	96997861		2203	4300	6503	SO:0001583	missense	9124	exon7			TCACAAACACACC	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.811T>C	10.37:g.96997861A>G	ENSP00000360305:p.Phe271Leu		Somatic	74	0	0		WXS	Illumina HiSeq	.	66	0.47	31	NM_020992	421	0.43	180	B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875295	0.33162	.	.	ENSG00000107438	ENST00000329399	T	0.39229	1.09	5.62	4.42	0.53409	Zinc finger, LIM-type (5);	0.207577	0.52532	D	0.000062	T	0.44850	0.1313	M	0.73430	2.235	0.47862	D	0.999531	B	0.29835	0.258	B	0.32980	0.156	T	0.46527	-0.9185	10	0.42905	T	0.14	-14.3831	11.6849	0.51481	0.8522:0.1478:0.0:0.0	.	271	O00151	PDLI1_HUMAN	L	271	ENSP00000360305:F271L	ENSP00000360305:F271L	F	-	1	0	PDLIM1	96987851	1.000000	0.71417	0.978000	0.43139	0.114000	0.19823	2.155000	0.42301	2.138000	0.66242	0.533000	0.62120	TTT			0.572	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049508.1			
PGAM1	5223	broad.mit.edu	37	10	99186071	99186071	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:99186071G>T	ENST00000334828.5	+	1	155	c.7G>T	c.(7-9)Gcc>Tcc	p.A3S	AL355490.1_ENST00000439965.2_5'Flank	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	3					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CGCCATGGCCGCCTACAAACT	0.706																																					p.A3S													.	PGAM1	11		0			c.G7T												12.0	15.0	14.0					10																	99186071		2003	4038	6041	SO:0001583	missense	5223	exon1			ATGGCCGCCTACA	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.7G>T	10.37:g.99186071G>T	ENSP00000359991:p.Ala3Ser		Somatic	216	0.0092592593	2		WXS	Illumina HiSeq	Phase_I	240	0.02	5	NM_002629	564	0.01	3	Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967652	0.18659	.	.	ENSG00000171314	ENST00000334828	T	0.80566	-1.39	5.03	4.12	0.48240	.	0.000000	0.64402	U	0.000001	T	0.66446	0.2790	N	0.16201	0.385	0.40796	D	0.983292	B;B	0.26147	0.143;0.026	B;B	0.29176	0.099;0.064	T	0.62900	-0.6756	10	0.30078	T	0.28	-39.4485	12.2036	0.54340	0.084:0.0:0.916:0.0	.	3;3	Q0D2Q6;P18669	.;PGAM1_HUMAN	S	3	ENSP00000359991:A3S	ENSP00000359991:A3S	A	+	1	0	PGAM1	99176061	0.969000	0.33509	0.369000	0.25952	0.024000	0.10985	3.213000	0.51153	1.338000	0.45544	0.484000	0.47621	GCC			0.706	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049652.1		NM_002629	
ANKRD2	26287	broad.mit.edu	37	10	99343382	99343382	+	Missense_Mutation	SNP	G	G	T	rs566640055		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:99343382G>T	ENST00000307518.5	+	9	1250	c.983G>T	c.(982-984)cGg>cTg	p.R328L	HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|ANKRD2_ENST00000298808.5_Missense_Mutation_p.R295L|HOGA1_ENST00000370647.4_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.R301L|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000455090.1_Missense_Mutation_p.R268L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	328					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCTGATACCCGGCACGCCCTG	0.652																																					p.R328L													.	ANKRD2	27		0			c.G983T																																									SO:0001583	missense	26287	exon9			ATACCCGGCACGC	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.983G>T	10.37:g.99343382G>T	ENSP00000306163:p.Arg328Leu		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	218	0.03	7	NM_020349	8	0.00	0	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174469	0.78452	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.67523	0.84;-0.27;0.8;-0.27	5.6	4.67	0.58626	.	0.202610	0.35040	N	0.003481	T	0.68979	0.3060	L	0.29908	0.895	0.37120	D	0.900768	D;P	0.65815	0.995;0.613	P;B	0.60682	0.878;0.172	T	0.74763	-0.3555	10	0.52906	T	0.07	-22.2299	12.8518	0.57862	0.0:0.0:0.8366:0.1634	.	295;328	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	L	328;295;301;268	ENSP00000306163:R328L;ENSP00000298808:R295L;ENSP00000359689:R301L;ENSP00000403114:R268L	ENSP00000298808:R295L	R	+	2	0	ANKRD2	99333372	0.563000	0.26594	0.998000	0.56505	0.834000	0.47266	2.899000	0.48679	1.316000	0.45131	0.561000	0.74099	CGG			0.652	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					
CUEDC2	79004	broad.mit.edu	37	10	104183205	104183205	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:104183205G>T	ENST00000369937.4	-	9	987	c.842C>A	c.(841-843)gCc>gAc	p.A281D	PSD_ENST00000492902.2_5'Flank|CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	281						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTACTTTCTGGCTGGCTTGAG	0.572											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A281D													.	CUEDC2	22		0			c.C842A												182.0	191.0	188.0					10																	104183205		2073	4218	6291	SO:0001583	missense	79004	exon9			TTTCTGGCTGGCT	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.842C>A	10.37:g.104183205G>T	ENSP00000358953:p.Ala281Asp		Somatic	231	0.0043290043	1	1379	WXS	Illumina HiSeq	Phase_I	239	0.03	6	NM_024040	183	0.00	0	D3DR88|Q9BWG8	Missense_Mutation	SNP	ENST00000369937.4	37	CCDS41566.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305984	0.81247	.	.	ENSG00000107874	ENST00000369937	D	0.89552	-2.53	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.93452	0.7911	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94253	0.7495	10	0.87932	D	0	-11.6533	16.9635	0.86279	0.0:0.0:1.0:0.0	.	281	Q9H467	CUED2_HUMAN	D	281	ENSP00000358953:A281D	ENSP00000358953:A281D	A	-	2	0	CUEDC2	104173195	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	9.214000	0.95140	2.257000	0.74773	0.462000	0.41574	GCC			0.572	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050060.1		NM_024040	
CCKBR	887	broad.mit.edu	37	11	6291057	6291057	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:6291057G>T	ENST00000334619.2	+	2	503	c.310G>T	c.(310-312)Gct>Tct	p.A104S	CCKBR_ENST00000525462.1_Missense_Mutation_p.A104S|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Missense_Mutation_p.A104S	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	104					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCTCCTGCTGGCTGTGGCTTG	0.582																																					p.A104S													.	CCKBR	232		0			c.G310T												129.0	100.0	110.0					11																	6291057		2201	4296	6497	SO:0001583	missense	887	exon2			CTGCTGGCTGTGG	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.310G>T	11.37:g.6291057G>T	ENSP00000335544:p.Ala104Ser		Somatic	157	0.0063694268	1		WXS	Illumina HiSeq	Phase_I	147	0.03	5	NM_176875	9	0.00	0	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067238	0.76301	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.35605	2.11;1.3;2.11	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.063695	0.64402	D	0.000007	T	0.31979	0.0814	L	0.45228	1.405	0.53005	D	0.999969	P;B;B	0.46859	0.885;0.167;0.256	B;B;B	0.42593	0.392;0.126;0.304	T	0.04281	-1.0963	10	0.39692	T	0.17	.	11.8116	0.52185	0.0:0.0:0.8245:0.1755	.	104;38;104	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	S	104	ENSP00000335544:A104S;ENSP00000437001:A104S;ENSP00000435534:A104S	ENSP00000335544:A104S	A	+	1	0	CCKBR	6247633	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.352000	0.44080	2.508000	0.84585	0.557000	0.71058	GCT			0.582	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257230.2		NM_176875	
MICAL2	9645	broad.mit.edu	37	11	12263797	12263797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:12263797G>T	ENST00000256194.4	+	19	2662	c.2374G>T	c.(2374-2376)Gag>Tag	p.E792*	MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.E792*|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	792					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CGTGCTCAGAGAGCTCAAGCA	0.552																																					p.E792X													.	MICAL2	114		0			c.G2374T												47.0	45.0	45.0					11																	12263797		2201	4294	6495	SO:0001587	stop_gained	9645	exon19			CTCAGAGAGCTCA	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2374G>T	11.37:g.12263797G>T	ENSP00000256194:p.Glu792*		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	89	0.04	4	NM_014632	0		0	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Nonsense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	43	10.104716	0.99337	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	.	.	.	4.88	4.88	0.63580	.	0.250217	0.28921	N	0.013706	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	8.1761	0.31283	0.0845:0.1608:0.7547:0.0	.	.	.	.	X	792	.	ENSP00000256194:E792X	E	+	1	0	MICAL2	12220373	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.680000	0.54641	2.527000	0.85204	0.563000	0.77884	GAG			0.552	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385993.1		NM_014632	
NAV2	89797	broad.mit.edu;mdanderson.org	37	11	19914121	19914121	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:19914121G>T	ENST00000396087.3	+	7	1080	c.981G>T	c.(979-981)ccG>ccT	p.P327P	NAV2_ENST00000396085.1_Silent_p.P304P|NAV2_ENST00000360655.4_Silent_p.P240P|NAV2_ENST00000527559.2_Silent_p.P256P|NAV2_ENST00000540292.1_Silent_p.P258P|NAV2_ENST00000349880.4_Silent_p.P304P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	327	Poly-Pro.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.P327P(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACCCCCACCGCCAAGCAGCC	0.512																																					p.P327P													NAV2,colon,carcinoma,0,1	NAV2	255	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G981T												76.0	65.0	69.0					11																	19914121		2199	4293	6492	SO:0001819	synonymous_variant	89797	exon7			CCCACCGCCAAGC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.981G>T	11.37:g.19914121G>T			Somatic	100	0.01	1		WXS	Illumina HiSeq	Phase_I	94	0.04	4	NM_001244963	1	0.00	0	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																					0.512	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324112.1		NM_145117	
NAT10	55226	broad.mit.edu	37	11	34149080	34149080	+	Missense_Mutation	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:34149080T>C	ENST00000257829.3	+	12	1384	c.1178T>C	c.(1177-1179)aTc>aCc	p.I393T	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.I321T	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	393						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCTGCCGCCATCCCCCTCCCC	0.502																																					p.I393T													.	NAT10	78		0			c.T1178C												177.0	161.0	167.0					11																	34149080		2202	4298	6500	SO:0001583	missense	55226	exon12			CCGCCATCCCCCT	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1178T>C	11.37:g.34149080T>C	ENSP00000257829:p.Ile393Thr		Somatic	179	0.0111731844	2		WXS	Illumina HiSeq	Phase_I	173	0.05	9	NM_024662	43	0.00	0	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860396	0.91433	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.59638	0.25;0.25	5.99	5.99	0.97316	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90266	0.4304	10	0.87932	D	0	-23.1049	16.4943	0.84223	0.0:0.0:0.0:1.0	.	393	Q9H0A0	NAT10_HUMAN	T	393;321	ENSP00000257829:I393T;ENSP00000433011:I321T	ENSP00000257829:I393T	I	+	2	0	NAT10	34105656	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.581000	0.82535	2.291000	0.77112	0.533000	0.62120	ATC			0.502	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388693.1		NM_024662	
ELF5	2001	broad.mit.edu	37	11	34527231	34527231	+	Silent	SNP	C	C	T	rs368376316		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:34527231C>T	ENST00000312319.2	-	2	325	c.96G>A	c.(94-96)tcG>tcA	p.S32S	ELF5_ENST00000528709.1_5'UTR|ELF5_ENST00000532417.1_Silent_p.S22S|ELF5_ENST00000257832.2_Silent_p.S22S|ELF5_ENST00000429939.2_Silent_p.S22S	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	32					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GATCAGTCCACGACATCAGGG	0.542																																					p.S32S	Melanoma(61;202 1660 4348 21594)												.	ELF5	21		0			c.G96A							C	,	0,4404		0,0,2202	196.0	150.0	165.0		66,96	1.2	1.0	11		165	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ELF5	NM_001422.3,NM_198381.1	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	22/256,32/266	34527231	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	2001	exon2			AGTCCACGACATC	AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.96G>A	11.37:g.34527231C>T			Somatic	160	0.0125	2		WXS	Illumina HiSeq	Phase_I	137	0.02	3	NM_001243081	0		0	A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	ENST00000312319.2	37	CCDS7892.1																																																																																					0.542	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389845.1		NM_198381	
FNBP4	23360	broad.mit.edu	37	11	47744591	47744591	+	Silent	SNP	A	A	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggtggtggaggaggaggag	0.463																																					p.P914P													FNBP4,NS,carcinoma,0,1	FNBP4	99	1	1	Substitution - coding silent(1)	endometrium(1)	c.T2742A												15.0	15.0	15.0					11																	47744591		1997	4159	6156	SO:0001819	synonymous_variant	23360	exon15			TGGTGGAGGAGGA	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742T>A	11.37:g.47744591A>T			Somatic	66	0.0151515152	1		WXS	Illumina HiSeq	Phase_I	57	0.05	3	NM_015308	69	0.00	0	Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	CCDS41644.1																																																																																					0.463	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390237.3			
PTGDR2	11251	broad.mit.edu;mdanderson.org	37	11	60620083	60620083	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:60620083G>T	ENST00000332539.4	-	2	1224	c.1113C>A	c.(1111-1113)ggC>ggA	p.G371G	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	371					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	CCAGCAGCCAGCCGAGGAGAC	0.756																																					p.G371G													.	.			0			c.C1113A												2.0	3.0	3.0					11																	60620083		1664	3338	5002	SO:0001819	synonymous_variant	11251	exon2			CAGCCAGCCGAGG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1113C>A	11.37:g.60620083G>T			Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	12	0.17	2	NM_004778	0		0	O94765|Q4QRI6	Silent	SNP	ENST00000332539.4	37	CCDS7994.1																																																																																					0.756	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396328.1		NM_004778	
MACROD1	28992	mdanderson.org	37	11	63884330	63884330	+	Intron	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:63884330G>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.P197P|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGGGCTGCCGCACACGCTGG	0.652																																					p.P197P													.	.			0			c.G591T												26.0	24.0	25.0					11																	63884330		2185	4269	6454	SO:0001627	intron_variant	23769	exon2			GCTGCCGCACACG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34380C>A	11.37:g.63884330G>T			Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_013280	1	0.00	0	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																					0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396570.1		NM_014067	
PYGM	5837	broad.mit.edu	37	11	64521405	64521405	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:64521405C>T	ENST00000164139.3	-	10	1583	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.T307T	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	395					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGGCAGCAGCGTCTCCAAGA	0.652																																					p.T395T													.	PYGM	77		0			c.G1185A												43.0	40.0	41.0					11																	64521405		2198	4292	6490	SO:0001819	synonymous_variant	5837	exon10			CAGCAGCGTCTCC		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1185G>A	11.37:g.64521405C>T			Somatic	168	0	0		WXS	Illumina HiSeq	Phase_I	158	0.02	3	NM_005609	1	0.00	0	A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	CCDS8079.1																																																																																					0.652	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143254.2		NM_005609	
TCIRG1	10312	mdanderson.org	37	11	67818094	67818094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:67818094G>T	ENST00000265686.3	+	19	2485	c.2377G>T	c.(2377-2379)Gga>Tga	p.G793*	RP11-802E16.3_ENST00000534517.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.G577*|CHKA_ENST00000533728.1_5'Flank|TCIRG1_ENST00000530802.1_Intron|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	793					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGTGATGGAGGGACTCTCAGC	0.677																																					p.G793X													.	.			0			c.G2377T												116.0	114.0	115.0					11																	67818094		2200	4294	6494	SO:0001587	stop_gained	10312	exon19			ATGGAGGGACTCT	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2377G>T	11.37:g.67818094G>T	ENSP00000265686:p.Gly793*		Somatic	45	0.0222222222	1		WXS	Illumina HiSeq	Phase_I	54	0.06	3	NM_006019	59	0.00	0	O75877|Q8WVC5	Nonsense_Mutation	SNP	ENST00000265686.3	37	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	42	9.607810	0.99217	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	.	.	.	4.23	1.25	0.21368	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-43.1209	7.8796	0.29614	0.1047:0.0:0.75:0.1453	.	.	.	.	X	793;577	.	ENSP00000265686:G793X	G	+	1	0	TCIRG1	67574670	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	9.369000	0.97156	0.164000	0.19529	0.462000	0.41574	GGA			0.677	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394305.1		NM_006019	
TMEM135	65084	broad.mit.edu	37	11	87006865	87006865	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:87006865G>T	ENST00000305494.5	+	7	590	c.551G>T	c.(550-552)aGg>aTg	p.R184M	TMEM135_ENST00000340353.7_Splice_Site_p.R162M|TMEM135_ENST00000535167.1_Splice_Site_p.R45M|TMEM135_ENST00000532959.1_Splice_Site_p.R55M	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	184					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTGCACTTAGGTAAGAAACA	0.249																																					p.R184M													.	TMEM135	40		0			c.G551T												73.0	79.0	77.0					11																	87006865		2190	4287	6477	SO:0001630	splice_region_variant	65084	exon7			CACTTAGGTAAGA	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.551+1G>T	11.37:g.87006865G>T			Somatic	301	0.0066445183	2		WXS	Illumina HiSeq	Phase_I	334	0.03	9	NM_022918	0		0	Q6AW91|Q8ND01|Q9H6M3	Splice_Site	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482042	0.63849	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.53857	0.77;0.6;0.73;0.62	4.9	4.9	0.64082	.	0.054222	0.64402	D	0.000001	T	0.53367	0.1792	L	0.43152	1.355	0.47547	D	0.999453	P;D	0.54047	0.955;0.964	P;P	0.53593	0.568;0.73	T	0.50882	-0.8775	9	.	.	.	-14.3726	9.3603	0.38192	0.098:0.0:0.902:0.0	.	162;184	Q86UB9-2;Q86UB9	.;TM135_HUMAN	M	162;21;55;184;45	ENSP00000345513:R162M;ENSP00000436179:R55M;ENSP00000306344:R184M;ENSP00000439525:R45M	.	R	+	2	0	TMEM135	86684513	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.247000	0.58750	2.278000	0.76064	0.557000	0.71058	AGG			0.249	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393875.1		NM_022918	Missense_Mutation
BIRC2	329	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	102221221	102221221	+	Missense_Mutation	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:102221221A>G	ENST00000227758.2	+	2	2035	c.636A>G	c.(634-636)atA>atG	p.I212M	BIRC2_ENST00000532672.1_Missense_Mutation_p.I191M|BIRC2_ENST00000530675.1_Missense_Mutation_p.I163M|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	212					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTATTATATAGGACCTGGAG	0.443																																					p.I212M													.	.			0			c.A636G												101.0	109.0	107.0					11																	102221221		2203	4299	6502	SO:0001583	missense	329	exon2			TTATATAGGACCT	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.636A>G	11.37:g.102221221A>G	ENSP00000227758:p.Ile212Met		Somatic	121	0	0		WXS	Illumina HiSeq	.	133	0.09	12	NM_001256163	14	0.21	3	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906370	0.52333	.	.	ENSG00000110330	ENST00000532832;ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.03982	3.74;3.74;3.74;3.74	5.92	2.12	0.27331	Baculoviral inhibition of apoptosis protein repeat (5);	0.520464	0.23598	N	0.046469	T	0.06508	0.0167	L	0.31926	0.97	0.33065	D	0.534669	P	0.40731	0.728	P	0.51615	0.675	T	0.25433	-1.0132	10	0.66056	D	0.02	-9.3362	1.6421	0.02754	0.4629:0.2624:0.148:0.1267	.	212	Q13490	BIRC2_HUMAN	M	54;163;212;212;191	ENSP00000432410:I54M;ENSP00000431723:I163M;ENSP00000227758:I212M;ENSP00000434979:I191M	ENSP00000227758:I212M	I	+	3	3	BIRC2	101726431	0.895000	0.30542	0.956000	0.39512	0.987000	0.75469	0.336000	0.19823	0.480000	0.27534	-0.250000	0.11733	ATA			0.443	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000394170.1		NM_001166	
BIRC2	329	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	102221245	102221245	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:102221245C>T	ENST00000227758.2	+	2	2059	c.660C>T	c.(658-660)tgC>tgT	p.C220C	BIRC2_ENST00000532672.1_Silent_p.C199C|BIRC2_ENST00000530675.1_Silent_p.C171C|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	220					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGGTAGCCTGCTTTGCCTGTG	0.433																																					p.C220C													.	.			0			c.C660T												102.0	110.0	108.0					11																	102221245		2203	4299	6502	SO:0001819	synonymous_variant	329	exon2			AGCCTGCTTTGCC	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.660C>T	11.37:g.102221245C>T			Somatic	128	0	0		WXS	Illumina HiSeq	.	129	0.08	10	NM_001256163	22	0.14	3	B4E026|Q16516|Q4TTG0	Silent	SNP	ENST00000227758.2	37	CCDS8316.1																																																																																					0.433	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000394170.1		NM_001166	
RNF214	257160	broad.mit.edu	37	11	117105020	117105020	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:117105020C>T	ENST00000531452.1	+	2	78	c.32C>T	c.(31-33)gCc>gTc	p.A11V	RNF214_ENST00000531287.1_Missense_Mutation_p.A11V|RNF214_ENST00000300650.4_Missense_Mutation_p.A11V|RNF214_ENST00000530849.1_Missense_Mutation_p.A11V|PCSK7_ENST00000320934.3_5'Flank	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	11							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GGTGTTGTGGCCAATGCCCCC	0.453																																					p.A11V													.	RNF214	54		0			c.C32T												161.0	163.0	162.0					11																	117105020		1997	4175	6172	SO:0001583	missense	257160	exon2			TTGTGGCCAATGC	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.32C>T	11.37:g.117105020C>T	ENSP00000431643:p.Ala11Val		Somatic	353	0.0028328612	1		WXS	Illumina HiSeq	Phase_I	287	0.01	4	NM_207343	13	0.00	0	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619166	0.66787	.	.	ENSG00000167257	ENST00000534428;ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.67345	-0.23;0.29;-0.26;0.29	4.86	4.86	0.63082	.	.	.	.	.	T	0.70710	0.3255	N	0.22421	0.69	0.22378	N	0.999153	D;P	0.67145	0.996;0.592	D;B	0.70935	0.971;0.326	T	0.63265	-0.6676	9	0.72032	D	0.01	-1.5049	13.3552	0.60623	0.0:1.0:0.0:0.0	.	11;11	B4DTD1;Q8ND24	.;RN214_HUMAN	V	11	ENSP00000435361:A11V;ENSP00000431643:A11V;ENSP00000432903:A11V;ENSP00000300650:A11V	ENSP00000300650:A11V	A	+	2	0	RNF214	116610230	0.824000	0.29247	0.920000	0.36463	0.992000	0.81027	1.904000	0.39868	2.507000	0.84556	0.655000	0.94253	GCC			0.453	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392884.1		NM_001077239	
SC5D	6309	broad.mit.edu	37	11	121177795	121177795	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:121177795G>T	ENST00000392789.2	+	5	711	c.474G>T	c.(472-474)aaG>aaT	p.K158N	SC5D_ENST00000264027.4_Missense_Mutation_p.K158N|SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000534230.1_Missense_Mutation_p.K158N	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	158					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ATATTTGGAAGATTCCTACTC	0.413																																					p.K158N													.	.			0			c.G474T												283.0	258.0	267.0					11																	121177795		2203	4299	6502	SO:0001583	missense	6309	exon5			TTGGAAGATTCCT		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.474G>T	11.37:g.121177795G>T	ENSP00000376539:p.Lys158Asn		Somatic	261	0.0076628352	2		WXS	Illumina HiSeq	Phase_I	216	0.02	5	NM_001024956	109	0.00	0	O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236486	0.79800	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.64	5.64	0.86602	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	L	0.48877	1.53	0.54753	D	0.999981	P	0.42078	0.77	P	0.48873	0.593	T	0.80243	-0.1463	10	0.22109	T	0.4	-18.127	11.8879	0.52613	0.0806:0.0:0.9194:0.0	.	158	O75845	SC5D_HUMAN	N	158;165;158;158	ENSP00000264027:K158N;ENSP00000436290:K165N;ENSP00000432550:K158N;ENSP00000376539:K158N	ENSP00000264027:K158N	K	+	3	2	SC5DL	120683005	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.021000	0.88750	2.662000	0.90505	0.655000	0.94253	AAG			0.413	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000387702.1		NM_001024956	
OR8B3	390271	broad.mit.edu	37	11	124267204	124267204	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:124267204G>T	ENST00000354597.3	-	1	60	c.44C>A	c.(43-45)gCt>gAt	p.A15D		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTTAATCCAGCAAGAATAAA	0.383																																					p.A15D													.	OR8B3	36		0			c.C44A												21.0	30.0	27.0					11																	124267204		2066	4249	6315	SO:0001583	missense	390271	exon1			AATCCAGCAAGAA	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.44C>A	11.37:g.124267204G>T	ENSP00000346611:p.Ala15Asp		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	146	0.03	4	NM_001005467	0		0	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	3.152	-0.174060	0.06421	.	.	ENSG00000196661	ENST00000354597	T	0.00441	7.41	3.64	1.77	0.24775	.	0.104096	0.42964	D	0.000629	T	0.00271	0.0008	L	0.41710	1.295	0.09310	N	0.999999	B	0.20550	0.046	B	0.18263	0.021	T	0.40739	-0.9547	10	0.27785	T	0.31	.	5.5171	0.16912	0.4916:0.0:0.5084:0.0	.	15	Q8NGG8	OR8B3_HUMAN	D	15	ENSP00000346611:A15D	ENSP00000346611:A15D	A	-	2	0	OR8B3	123772414	0.000000	0.05858	0.630000	0.29268	0.182000	0.23217	-0.021000	0.12504	0.518000	0.28383	-0.158000	0.13435	GCT			0.383	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387291.1		NM_001005467	
RAD52	5893	broad.mit.edu	37	12	1025813	1025813	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:1025813G>A	ENST00000358495.3	-	8	855	c.717C>T	c.(715-717)tgC>tgT	p.C239C	RAD52_ENST00000539046.1_Silent_p.C162C|RAD52_ENST00000536177.1_Silent_p.C239C|RAD52_ENST00000535376.1_5'Flank|RAD52_ENST00000430095.2_Silent_p.C239C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	239	Mediates interaction with RPA2.				DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			ACCGGGAGCTGCAGTCCTGGT	0.672								Homologous recombination																													p.C239C													.	RAD52	27		0			c.C717T												53.0	56.0	55.0					12																	1025813		2055	4201	6256	SO:0001819	synonymous_variant	5893	exon8			GGAGCTGCAGTCC		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.717C>T	12.37:g.1025813G>A			Somatic	88	0.0113636364	1		WXS	Illumina HiSeq	Phase_I	249	0.02	4	NM_134424	27	0.00	0	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	CCDS8507.2																																																																																					0.672	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206733.2		NM_134424	
NRIP2	83714	broad.mit.edu	37	12	2944011	2944011	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:2944011G>T	ENST00000337508.4	-	1	179	c.139C>A	c.(139-141)Cca>Aca	p.P47T		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	47					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCCCCTGCTGGAGGAGTGGGC	0.652																																					p.P47T													.	NRIP2	21		0			c.C139A												77.0	75.0	75.0					12																	2944011		2203	4300	6503	SO:0001583	missense	83714	exon1			CTGCTGGAGGAGT	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.139C>A	12.37:g.2944011G>T	ENSP00000337501:p.Pro47Thr		Somatic	97	0.0103092784	1		WXS	Illumina HiSeq	Phase_I	307	0.01	4	NM_031474	8	0.00	0	A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684833	0.29872	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	.	.	.	3.81	2.87	0.33458	.	82.040100	0.00166	N	0.000000	T	0.43986	0.1272	L	0.46157	1.445	0.09310	N	1	B	0.20550	0.046	B	0.12156	0.007	T	0.18681	-1.0329	9	0.29301	T	0.29	-3.5574	8.0242	0.30427	0.0:0.0:0.7449:0.2551	.	47	Q9BQI9	NRIP2_HUMAN	T	47	.	ENSP00000337501:P47T	P	-	1	0	NRIP2	2814272	0.000000	0.05858	0.069000	0.20011	0.133000	0.20885	-0.086000	0.11233	0.761000	0.33130	0.484000	0.47621	CCA			0.652	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253090.4		NM_031474	
VWF	7450	broad.mit.edu	37	12	6076729	6076729	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6076729G>T	ENST00000261405.5	-	47	8064	c.7810C>A	c.(7810-7812)Cgc>Agc	p.R2604S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2604	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R2604C(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACCATGCAGCGGCAGGTCGTG	0.632																																					p.R2604S													VWF,NS,NS,0,1	VWF	338	1	1	Substitution - Missense(1)	NS(1)	c.C7810A												144.0	134.0	137.0					12																	6076729		2203	4300	6503	SO:0001583	missense	7450	exon47			TGCAGCGGCAGGT		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7810C>A	12.37:g.6076729G>T	ENSP00000261405:p.Arg2604Ser		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	297	0.01	3	NM_000552	145	0.00	0	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699331	0.15106	.	.	ENSG00000110799	ENST00000261405	T	0.72051	-0.62	5.04	5.04	0.67666	von Willebrand factor, type C (4);	0.877201	0.09501	N	0.793574	T	0.70570	0.3239	M	0.68317	2.08	0.80722	D	1	B	0.21381	0.055	B	0.26310	0.068	T	0.59327	-0.7475	10	0.21014	T	0.42	.	13.7605	0.62963	0.0:0.0:1.0:0.0	.	2604	P04275	VWF_HUMAN	S	2604	ENSP00000261405:R2604S	ENSP00000261405:R2604S	R	-	1	0	VWF	5946990	0.983000	0.35010	0.938000	0.37757	0.008000	0.06430	2.156000	0.42310	2.619000	0.88677	0.561000	0.74099	CGC			0.632	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399020.1		NM_000552	
CD9	928	broad.mit.edu	37	12	6344654	6344654	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6344654G>T	ENST00000382518.1	+	7	896	c.460G>T	c.(460-462)Ggt>Tgt	p.G154C	Y_RNA_ENST00000365448.1_RNA|CD9_ENST00000009180.4_Missense_Mutation_p.G154C|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_Missense_Mutation_p.G85C			P21926	CD9_HUMAN	CD9 molecule	154					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GAACTGCTGTGGTTTGGCTGG	0.502																																					p.G154C													.	CD9	24		0			c.G460T												136.0	124.0	128.0					12																	6344654		2203	4300	6503	SO:0001583	missense	928	exon6			TGCTGTGGTTTGG	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.460G>T	12.37:g.6344654G>T	ENSP00000371958:p.Gly154Cys		Somatic	96	0.0104166667	1		WXS	Illumina HiSeq	Phase_I	326	0.02	6	NM_001769	4845	0.00	3	D3DUQ9|Q5J7W6|Q96ES4	Missense_Mutation	SNP	ENST00000382518.1	37	CCDS8540.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.85|17.85	3.489882|3.489882	0.64074|0.64074	.|.	.|.	ENSG00000010278|ENSG00000010278	ENST00000382518;ENST00000382519;ENST00000543424;ENST00000009180;ENST00000382515|ENST00000425469	D;D;D;D|.	0.99201|.	-5.55;-5.55;-5.55;-5.55|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81370|0.81370	0.4808|0.4808	H|H	0.98559|0.98559	4.265|4.265	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.43094	1.0|0.799	D|B	0.97110|0.40228	1.0|0.323	D|D	0.88278|0.88278	0.2934|0.2934	10|8	0.87932|0.87932	D|D	0|0	.|.	17.2301|17.2301	0.86982|0.86982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	154|203	P21926|B4DK09	CD9_HUMAN|.	C|L	154;177;67;154;85|153	ENSP00000371958:G154C;ENSP00000371959:G177C;ENSP00000009180:G154C;ENSP00000371955:G85C|.	ENSP00000009180:G154C|ENSP00000388933:W153L	G|W	+|+	1|2	0|0	CD9|CD9	6214915|6214915	1.000000|1.000000	0.71417|0.71417	0.828000|0.828000	0.32881|0.32881	0.136000|0.136000	0.21042|0.21042	8.556000|8.556000	0.90697|0.90697	2.678000|2.678000	0.91216|0.91216	0.655000|0.655000	0.94253|0.94253	GGT|TGG			0.502	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103348.1			
SCNN1A	6337	broad.mit.edu	37	12	6483687	6483687	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6483687G>T	ENST00000228916.2	-	2	361	c.263C>A	c.(262-264)gCa>gAa	p.A88E	SCNN1A_ENST00000543768.1_Missense_Mutation_p.A111E|SCNN1A_ENST00000358945.3_Missense_Mutation_p.A88E|SCNN1A_ENST00000538979.1_Intron|LTBR_ENST00000539925.1_5'Flank|SCNN1A_ENST00000396966.2_Missense_Mutation_p.A88E|SCNN1A_ENST00000360168.3_Missense_Mutation_p.A147E	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	88					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCACAGCACTGCCCAGAAGGC	0.567																																					p.A147E													.	SCNN1A	54		0			c.C440A												165.0	137.0	147.0					12																	6483687		2203	4300	6503	SO:0001583	missense	0	exon1			AGCACTGCCCAGA	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.263C>A	12.37:g.6483687G>T	ENSP00000228916:p.Ala88Glu		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	304	0.02	5	NM_001159576	81	0.00	0	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652508	0.67472	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768;ENST00000536788	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	4.87	4.87	0.63330	.	0.479020	0.20923	N	0.083245	T	0.73094	0.3543	M	0.73962	2.25	0.31155	N	0.705007	D;P;P	0.56287	0.975;0.863;0.823	P;P;P	0.60886	0.88;0.762;0.516	T	0.74556	-0.3626	10	0.44086	T	0.13	-14.5908	9.2005	0.37256	0.0993:0.0:0.9007:0.0	.	111;88;147	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	E	147;88;88;88;111;109	ENSP00000353292:A147E;ENSP00000351825:A88E;ENSP00000228916:A88E;ENSP00000380166:A88E;ENSP00000438739:A111E;ENSP00000443434:A109E	ENSP00000228916:A88E	A	-	2	0	SCNN1A	6353948	1.000000	0.71417	0.977000	0.42913	0.847000	0.48162	4.292000	0.59031	2.249000	0.74217	0.561000	0.74099	GCA			0.567	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399055.1			
IFFO1	25900	broad.mit.edu	37	12	6649685	6649685	+	Silent	SNP	G	G	T	rs201420908		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6649685G>T	ENST00000396840.2	-	9	1685	c.1644C>A	c.(1642-1644)tcC>tcA	p.S548S	IFFO1_ENST00000465801.1_Silent_p.S244S|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000336604.4_Silent_p.S551S|IFFO1_ENST00000356896.4_Silent_p.S552S|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000436152.2_Silent_p.S245S			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	548						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CATCGCGATCGGAGTCCTCAG	0.617																																					p.S560S													.	IFFO1	55		0			c.C1680A												57.0	58.0	57.0					12																	6649685		2203	4300	6503	SO:0001819	synonymous_variant	25900	exon10			GCGATCGGAGTCC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1644C>A	12.37:g.6649685G>T			Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	399	0.02	9	NM_001193457	79	0.00	0	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37		.	.	.	.	.	.	.	.	.	.	G	11.31	1.599668	0.28534	.	.	ENSG00000010295	ENST00000416019;ENST00000423501	.	.	.	4.84	2.98	0.34508	.	.	.	.	.	T	0.43875	0.1267	.	.	.	0.80722	D	1	P	0.48998	0.918	P	0.44946	0.465	T	0.24870	-1.0148	6	.	.	.	-18.5917	4.8333	0.13451	0.0796:0.3026:0.4797:0.1382	.	243	Q6P593	.	Q	282;188	.	.	P	-	2	0	IFFO1	6519946	0.980000	0.34600	1.000000	0.80357	0.990000	0.78478	-0.014000	0.12656	0.612000	0.30071	-0.268000	0.10319	CCG			0.617	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000280428.1		NM_080730	
ACRBP	84519	broad.mit.edu	37	12	6749616	6749616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6749616G>A	ENST00000229243.2	-	7	1243	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	ACRBP_ENST00000414226.2_Nonsense_Mutation_p.Q351*|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GAGTGGCACTGCTCCAGCTTC	0.612																																					p.Q384X													.	ACRBP	52		0			c.C1150T												54.0	58.0	57.0					12																	6749616		2203	4300	6503	SO:0001587	stop_gained	84519	exon7			GGCACTGCTCCAG	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1150C>T	12.37:g.6749616G>A	ENSP00000229243:p.Gln384*		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	313	0.02	5	NM_032489	2	0.00	0		Nonsense_Mutation	SNP	ENST00000229243.2	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044529	0.97231	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	.	.	.	5.07	5.07	0.68467	.	0.260219	0.29266	N	0.012655	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5664	0.50807	0.0831:0.0:0.9169:0.0	.	.	.	.	X	384;351	.	ENSP00000229243:Q384X	Q	-	1	0	ACRBP	6619877	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.797000	0.69087	2.329000	0.79093	0.561000	0.74099	CAG			0.612	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400703.1		NM_032489	
ZNF384	171017	broad.mit.edu	37	12	6787518	6787518	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6787518C>T	ENST00000396801.3	-	6	668	c.461G>A	c.(460-462)gGc>gAc	p.G154D	ZNF384_ENST00000396799.2_Missense_Mutation_p.G154D|ZNF384_ENST00000319770.3_Missense_Mutation_p.G138D|ZNF384_ENST00000361959.3_Missense_Mutation_p.G154D|ZNF384_ENST00000396795.1_Missense_Mutation_p.G154D|ZNF384_ENST00000355772.4_Intron	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	154					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGCTTGTGAGCCAGGGGGAAG	0.582			T	"""EWSR1, TAF15 """	ALL																																p.G154D				Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	.	ZNF384	102		0			c.G461A												48.0	46.0	47.0					12																	6787518		2203	4300	6503	SO:0001583	missense	0	exon6			TGTGAGCCAGGGG	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.461G>A	12.37:g.6787518C>T	ENSP00000380019:p.Gly154Asp		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	308	0.02	6	NM_133476	89	0.00	0	O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.319951	0.60634	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T	0.08720	3.15;3.14;3.06;3.06;3.14;3.51	5.47	5.47	0.80525	.	0.429971	0.26106	N	0.026314	T	0.25568	0.0622	L	0.53249	1.67	0.52099	D	0.999949	D;D;P;D	0.71674	0.965;0.998;0.939;0.969	P;D;P;P	0.72338	0.766;0.977;0.565;0.785	T	0.00116	-1.2037	10	0.54805	T	0.06	-13.8422	17.4978	0.87723	0.0:1.0:0.0:0.0	.	154;154;138;154	Q8TF68;E9PHB3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	D	138;154;154;154;154;154;138;138;154;138	ENSP00000321650:G138D;ENSP00000380013:G154D;ENSP00000380019:G154D;ENSP00000354592:G154D;ENSP00000380017:G154D;ENSP00000412911:G138D	ENSP00000321650:G138D	G	-	2	0	ZNF384	6657779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.020000	0.70826	2.560000	0.86352	0.591000	0.81541	GGC			0.582	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400712.1			
A2M	2	broad.mit.edu	37	12	9248225	9248225	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:9248225G>T	ENST00000318602.7	-	16	2230	c.1923C>A	c.(1921-1923)gaC>gaA	p.D641E		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	641					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GATTGATGCAGTCTTCATTGT	0.398																																					p.D641E													.	A2M	180		0			c.C1923A												124.0	118.0	120.0					12																	9248225		1864	4104	5968	SO:0001583	missense	2	exon16			GATGCAGTCTTCA	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1923C>A	12.37:g.9248225G>T	ENSP00000323929:p.Asp641Glu		Somatic	170	0.0117647059	2		WXS	Illumina HiSeq	Phase_I	535	0.01	8	NM_000014	65	0.00	0	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	5.745	0.321913	0.10900	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.26518	1.73	5.65	-3.6	0.04570	.	0.659725	0.15601	N	0.253914	T	0.11239	0.0274	L	0.35542	1.07	0.09310	N	0.999997	B	0.11235	0.004	B	0.10450	0.005	T	0.34875	-0.9811	10	0.08599	T	0.76	.	2.1502	0.03797	0.2909:0.1984:0.4061:0.1046	.	641	P01023	A2MG_HUMAN	E	641;656	ENSP00000323929:D641E	ENSP00000323929:D641E	D	-	3	2	A2M	9139492	0.001000	0.12720	0.002000	0.10522	0.049000	0.14656	-0.517000	0.06275	-0.507000	0.06549	0.650000	0.86243	GAC			0.398	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317233.2		NM_000014	
CLEC7A	64581	broad.mit.edu	37	12	10280328	10280328	+	Intron	DEL	C	C	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:10280328delC	ENST00000304084.8	-	2	357				CLEC7A_ENST00000353231.5_Intron|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000298523.5_Intron|CLEC7A_ENST00000525605.1_Frame_Shift_Del_p.E74fs|CLEC7A_ENST00000533022.1_Intron|CLEC7A_ENST00000310002.4_Intron	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A						carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						ttgttaATCTCCTCCACCAAA	0.403																																					.													.	CLEC7A	55		0			.												46.0	44.0	45.0					12																	10280328		2202	4299	6501	SO:0001627	intron_variant	64581	.			TAATCTCCTCCAC	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.202+17G>-	12.37:g.10280328delC			Somatic	378	0	0		WXS	Illumina HiSeq	Phase_I	1252	0.01	13	.	0		0	B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Frame_Shift_Del	DEL	ENST00000304084.8	37	CCDS41753.1																																																																																					0.403	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390772.1		NM_197954	
TAS2R31	259290	hgsc.bcm.edu	37	12	11182927	11182927	+	IGR	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:11182927C>A	ENST00000390675.2	-	0	1021				TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						TATAGAAAAACCAGTAAGAAA	0.333																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			GAAAAACCAGTAA	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538			12.37:g.11182927C>A			Somatic	78	0	0		WXS	Illumina HiSeq	.	252	0.06	15	.	0		0	P59547|Q17R84|Q645X5	RNA	SNP	ENST00000390675.2	37	CCDS53747.1																																																																																					0.333	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400233.1		NM_176885	
PRB2	653247	broad.mit.edu	37	12	11546004	11546004	+	Silent	SNP	A	A	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:11546004A>T	ENST00000389362.4	-	3	1043	c.1008T>A	c.(1006-1008)ccT>ccA	p.P336P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	336	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGTTTGTTGC	0.617																																					p.P336P													.	PRB2	168		0			c.T1008A												65.0	79.0	74.0					12																	11546004		2141	4195	6336	SO:0001819	synonymous_variant	653247	exon3			ACCTTGAGGTTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.1008T>A	12.37:g.11546004A>T			Somatic	309	0.0097087379	3		WXS	Illumina HiSeq	Phase_I	1020	0.02	24	NM_006248	0		0	O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																					0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346925.2		NM_006248	
DDX47	51202	broad.mit.edu	37	12	12974319	12974319	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:12974319G>T	ENST00000358007.3	+	3	381	c.359G>T	c.(358-360)gGa>gTa	p.G120V	DDX47_ENST00000352940.4_Missense_Mutation_p.G120V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	120	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCCTCTATTGGAGTGCAGAGT	0.527																																					p.G120V													.	DDX47	37		0			c.G359T												99.0	100.0	100.0					12																	12974319		2203	4300	6503	SO:0001583	missense	51202	exon3			CTATTGGAGTGCA	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.359G>T	12.37:g.12974319G>T	ENSP00000350698:p.Gly120Val		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	280	0.01	4	NM_201224	278	0.00	0	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807209	0.90623	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.54279	0.58;3.27	5.6	5.6	0.85130	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.89917	0.998;0.989;0.984;1.0	D;D;P;D	0.83275	0.963;0.914;0.902;0.996	T	0.74423	-0.3670	10	0.72032	D	0.01	-9.1955	19.616	0.95634	0.0:0.0:1.0:0.0	.	120;120;120;120	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	V	120	ENSP00000319578:G120V;ENSP00000350698:G120V	ENSP00000319578:G120V	G	+	2	0	DDX47	12865586	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.201000	0.95017	2.642000	0.89623	0.555000	0.69702	GGA			0.527	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400674.1		NM_016355	
GSG1	83445	broad.mit.edu	37	12	13243709	13243709	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:13243709G>T	ENST00000432710.2	-	2	224	c.92C>A	c.(91-93)tCt>tAt	p.S31Y	GSG1_ENST00000396302.3_Missense_Mutation_p.S18Y|GSG1_ENST00000537302.1_Missense_Mutation_p.S18Y|GSG1_ENST00000337630.6_Missense_Mutation_p.S18Y|GSG1_ENST00000324458.8_Missense_Mutation_p.S31Y|GSG1_ENST00000457134.2_Missense_Mutation_p.S18Y|GSG1_ENST00000396310.2_Missense_Mutation_p.S15Y|GSG1_ENST00000351606.6_Missense_Mutation_p.S31Y	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAGGATGGCAGATAGGAGTGT	0.562																																					p.S31Y													.	GSG1	62		0			c.C92A												105.0	93.0	97.0					12																	13243709		2203	4300	6503	SO:0001583	missense	83445	exon2			ATGGCAGATAGGA	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.92C>A	12.37:g.13243709G>T	ENSP00000405032:p.Ser31Tyr		Somatic	102	0	0		WXS	Illumina HiSeq	Phase_I	285	0.02	5	NM_001080554	18	0.00	0	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587516	0.86851	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000396302;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000542415;ENST00000545699	T;T;T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.4	5.4	0.78164	.	0.140643	0.48767	D	0.000168	T	0.69522	0.3120	M	0.82517	2.595	0.40855	D	0.983783	D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.87578	0.986;0.983;0.993;0.99;0.981;0.998;0.991;0.98	T	0.75004	-0.3470	10	0.87932	D	0	.	19.1798	0.93619	0.0:0.0:1.0:0.0	.	31;31;31;18;18;18;18;18	Q2KHT4-7;Q2KHT4-6;G3XAB9;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A0;F1T0A1	.;.;.;GSG1_HUMAN;.;.;.;.	Y	18;31;15;18;18;31;18;31;15;31;31;18	ENSP00000336816:S18Y;ENSP00000320838:S31Y;ENSP00000379604:S15Y;ENSP00000379596:S18Y;ENSP00000398384:S18Y;ENSP00000405032:S31Y;ENSP00000441718:S18Y;ENSP00000336857:S31Y;ENSP00000445884:S31Y;ENSP00000439676:S31Y;ENSP00000440684:S18Y	ENSP00000320838:S31Y	S	-	2	0	GSG1	13134976	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.638000	0.83328	2.537000	0.85549	0.561000	0.74099	TCT			0.562	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316546.1		NM_031289	
RERG	85004	broad.mit.edu	37	12	15264285	15264285	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:15264285G>T	ENST00000256953.2	-	4	521	c.185C>A	c.(184-186)gCt>gAt	p.A62D	RERG_ENST00000537647.1_Missense_Mutation_p.A62D|RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000536465.1_Missense_Mutation_p.A62D|RERG_ENST00000546331.1_Missense_Mutation_p.A43D|RERG_ENST00000538313.1_Missense_Mutation_p.A62D	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	62					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACCTGACCAGCAGTGTCTAG	0.348																																					p.A62D													.	RERG	30		0			c.C185A												113.0	117.0	116.0					12																	15264285		2203	4300	6503	SO:0001583	missense	85004	exon4			TGACCAGCAGTGT	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.185C>A	12.37:g.15264285G>T	ENSP00000256953:p.Ala62Asp		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	365	0.01	4	NM_032918	12	0.00	0	B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111168	0.94339	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000545567;ENST00000537647	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.26	5.26	0.73747	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	H	0.96748	3.875	0.80722	D	1	D;D	0.71674	0.998;0.985	D;D	0.75484	0.986;0.926	D	0.97609	1.0128	10	0.87932	D	0	.	17.6113	0.88054	0.0:0.0:1.0:0.0	.	43;62	B4DI02;Q96A58	.;RERG_HUMAN	D	62;62;62;43;75;62	ENSP00000256953:A62D;ENSP00000441505:A62D;ENSP00000438280:A62D;ENSP00000444485:A43D;ENSP00000439532:A75D;ENSP00000441860:A62D	ENSP00000256953:A62D	A	-	2	0	RERG	15155552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.646000	0.98474	2.744000	0.94065	0.650000	0.86243	GCT			0.348	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400882.1		NM_032918	
PDE3A	5139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	20769229	20769229	+	Silent	SNP	C	C	G	rs565901497		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:20769229C>G	ENST00000359062.3	+	4	1375	c.1335C>G	c.(1333-1335)acC>acG	p.T445T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	445	Poly-Thr.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCACCACCACCTCGGCCACAG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		14247	0.0		0.0	False		,,,				2504	0.001				p.T445T													.	.			0			c.C1335G												127.0	115.0	119.0					12																	20769229		2203	4300	6503	SO:0001819	synonymous_variant	5139	exon4			CACCACCTCGGCC		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1335C>G	12.37:g.20769229C>G			Somatic	108	0	0		WXS	Illumina HiSeq	.	336	0.10	32	NM_000921	0		0	O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	CCDS31754.1																																																																																					0.547	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401756.2			
ST8SIA1	6489	broad.mit.edu	37	12	22354747	22354747	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:22354747G>T	ENST00000396037.4	-	5	1291	c.810C>A	c.(808-810)gcC>gcA	p.A270A	ST8SIA1_ENST00000539510.1_Silent_p.A127A	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	270					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ACAGGCGCTTGGCATGGATTC	0.498																																					p.A270A													ST8SIA1,colon,carcinoma,-1,1	ST8SIA1	55	1	0			c.C810A												68.0	71.0	70.0					12																	22354747		2203	4300	6503	SO:0001819	synonymous_variant	6489	exon5			GCGCTTGGCATGG	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.810C>A	12.37:g.22354747G>T			Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	295	0.02	5	NM_003034	3	0.00	0	A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	CCDS8697.1																																																																																					0.498	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402245.2		NM_003034	
ETNK1	55500	broad.mit.edu	37	12	22797183	22797183	+	Intron	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:22797183G>T	ENST00000266517.4	+	2	772				ETNK1_ENST00000335148.3_Missense_Mutation_p.R241I	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAACTACAAGATGTTTTGGA	0.343																																					p.R241I	Esophageal Squamous(42;87 913 3224 6226 43339)												.	ETNK1	61		0			c.G722T												118.0	105.0	109.0					12																	22797183		1814	4078	5892	SO:0001627	intron_variant	55500	exon3			CTACAAGATGTTT	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.683+227G>T	12.37:g.22797183G>T			Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	269	0.02	5	NM_001039481	9	0.00	0	G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	G	7.579	0.668244	0.14776	.	.	ENSG00000139163	ENST00000335148	.	.	.	2.87	0.875	0.19130	.	.	.	.	.	T	0.26231	0.0640	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25641	-1.0126	8	0.62326	D	0.03	.	2.4596	0.04538	0.1128:0.1899:0.5022:0.1951	.	241	G5E969	.	I	241	.	ENSP00000334041:R241I	R	+	2	0	ETNK1	22688450	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.386000	0.20702	0.078000	0.16900	-0.310000	0.09108	AGA			0.343	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401926.2		NM_018638	
MRPS35	60488	broad.mit.edu	37	12	27908360	27908360	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:27908360delA	ENST00000081029.3	+	8	1020	c.949delA	c.(949-951)aagfs	p.K317fs	Y_RNA_ENST00000516776.1_RNA|MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AGAATCCGTGAAGAGACTATT	0.279																																					p.K317fs													MRPS35,NS,carcinoma,-1,1	MRPS35	26	1	0			c.949delA												62.0	74.0	70.0					12																	27908360		2173	4276	6449	SO:0001589	frameshift_variant	60488	exon8			TCCGTGAAGAGAC	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.949delA	12.37:g.27908360delA	ENSP00000081029:p.Lys317fs		Somatic	248	0	0		WXS	Illumina HiSeq	Phase_I	706	0.01	9	NM_021821	610	0.00	0	B2RDZ7|Q96Q21	Frame_Shift_Del	DEL	ENST00000081029.3	37	CCDS8714.1																																																																																					0.279	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402897.1		NM_021821	
TMTC1	83857	broad.mit.edu	37	12	29659824	29659825	+	Frame_Shift_Ins	INS	-	-	C	rs35279918		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:29659824_29659825insC	ENST00000539277.1	-	18	2661_2662	c.2603_2604insG	c.(2602-2604)cgcfs	p.R868fs	TMTC1_ENST00000256062.5_Frame_Shift_Ins_p.R760fs|TMTC1_ENST00000552618.1_Frame_Shift_Ins_p.R892fs|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Frame_Shift_Ins_p.R930fs	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTTTCTAGGCGATCCAATTT	0.455																																					p.R868fs													.	TMTC1	147		0			c.2604_2605insG																																									SO:0001589	frameshift_variant	83857	exon18			TTCTAGGCGATCC		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2604dupG	12.37:g.29659825_29659825dupC	ENSP00000442046:p.Arg868fs		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	488	0.01	7	NM_001193451	40	0.00	0	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Frame_Shift_Ins	INS	ENST00000539277.1	37	CCDS53772.1																																																																																					0.455	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000403509.1		NM_031920	
KIAA1551	55196	broad.mit.edu	37	12	32135426	32135426	+	Missense_Mutation	SNP	C	C	T	rs146592039		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:32135426C>T	ENST00000312561.4	+	4	1951	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	513																	TTCTGAAAAGCGGCCAATGCC	0.393																																					p.R513W													C12orf35,NS,carcinoma,0,1	.		1	0			c.C1537T							C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	58.0	58.0		1537	-6.8	0.0	12	dbSNP_134	58	0,8600		0,0,4300	no	missense	C12orf35	NM_018169.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	513/1748	32135426	1,13005	2203	4300	6503	SO:0001583	missense	55196	exon4			GAAAAGCGGCCAA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1537C>T	12.37:g.32135426C>T	ENSP00000310338:p.Arg513Trp		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	346	0.01	5	NM_018169	103	0.00	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186962	0.38609	2.27E-4	0.0	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06142	3.98;3.34	4.76	-6.82	0.01698	.	2.764630	0.02345	N	0.075284	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	P	0.49358	0.923	B	0.43916	0.436	T	0.28902	-1.0029	9	.	.	.	.	2.4757	0.04575	0.1508:0.3424:0.3272:0.1795	.	513	Q9HCM1	CL035_HUMAN	W	513	ENSP00000310338:R513W;ENSP00000370442:R513W	.	R	+	1	2	C12orf35	32026693	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.251000	0.08818	-1.239000	0.02532	-0.471000	0.05019	CGG			0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250307.2		NM_018169	
DNM1L	10059	broad.mit.edu	37	12	32861095	32861095	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:32861095G>T	ENST00000549701.1	+	4	380	c.306G>T	c.(304-306)acG>acT	p.T102T	DNM1L_ENST00000358214.5_Silent_p.T115T|DNM1L_ENST00000266481.6_Silent_p.T102T|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000381000.4_Silent_p.T115T|Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000547312.1_Silent_p.T102T|DNM1L_ENST00000553257.1_Silent_p.T115T|DNM1L_ENST00000452533.2_Silent_p.T102T|DNM1L_ENST00000414834.2_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	102	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGCTTTACACGGATTTTGATG	0.308																																					p.T102T													.	DNM1L	52		0			c.G306T												29.0	31.0	30.0					12																	32861095		2186	4279	6465	SO:0001819	synonymous_variant	10059	exon4			TTACACGGATTTT	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.306G>T	12.37:g.32861095G>T			Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	823	0.01	7	NM_012062	30	0.00	0	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	CCDS8729.1																																																																																					0.308	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000404124.1		NM_012062	
FAM186A	121006	broad.mit.edu	37	12	50746140	50746140	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:50746140C>T	ENST00000327337.5	-	4	4474	c.4475G>A	c.(4474-4476)gGg>gAg	p.G1492E	FAM186A_ENST00000543111.1_Missense_Mutation_p.G1492E|FAM186A_ENST00000543096.1_5'Flank	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1492																	GAGAGGGATCCCCAATTCCTG	0.657																																					p.G1492E	NSCLC(138;1796 1887 12511 19463 37884)												.	FAM186A	181		0			c.G4475A												11.0	12.0	12.0					12																	50746140		692	1588	2280	SO:0001583	missense	121006	exon4			GGGATCCCCAATT		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4475G>A	12.37:g.50746140C>T	ENSP00000329995:p.Gly1492Glu		Somatic	203	0.0049261084	1		WXS	Illumina HiSeq	Phase_I	305	0.03	10	NM_001145475	0		0		Missense_Mutation	SNP	ENST00000327337.5	37	CCDS44878.1	.	.	.	.	.	.	.	.	.	.	-	12.93	2.086248	0.36855	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.03982	3.74;3.74	4.53	-2.85	0.05734	.	.	.	.	.	T	0.06462	0.0166	L	0.29908	0.895	0.09310	N	1	D;B	0.89917	1.0;0.297	D;B	0.80764	0.994;0.112	T	0.15378	-1.0439	9	0.02654	T	1	.	4.5237	0.11971	0.2364:0.448:0.0:0.3156	.	1492;1492	F5GYN0;A6NE01	.;F186A_HUMAN	E	1492	ENSP00000441337:G1492E;ENSP00000329995:G1492E	ENSP00000329995:G1492E	G	-	2	0	FAM186A	49032407	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.828000	0.27435	-0.426000	0.07360	-0.409000	0.06214	GGG			0.657	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396838.1		XM_001718353	
FAM186A	121006	broad.mit.edu	37	12	50748100	50748100	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:50748100G>T	ENST00000327337.5	-	4	2514	c.2515C>A	c.(2515-2517)Ctc>Atc	p.L839I	FAM186A_ENST00000543111.1_Missense_Mutation_p.L839I	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	839																	TGCTGTTTGAGACTCATGCCA	0.428																																					p.L839I	NSCLC(138;1796 1887 12511 19463 37884)												.	FAM186A	181		0			c.C2515A												67.0	49.0	55.0					12																	50748100		692	1591	2283	SO:0001583	missense	121006	exon4			GTTTGAGACTCAT		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.2515C>A	12.37:g.50748100G>T	ENSP00000329995:p.Leu839Ile		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	207	0.01	3	NM_001145475	0		0		Missense_Mutation	SNP	ENST00000327337.5	37	CCDS44878.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833396	0.32421	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.19105	2.18;2.17	2.87	0.955	0.19602	.	.	.	.	.	T	0.22704	0.0548	N	0.19112	0.55	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.63488	0.915;0.915	T	0.10474	-1.0628	9	0.46703	T	0.11	.	4.6658	0.12664	0.2431:0.1873:0.5696:0.0	.	839;839	F5GYN0;A6NE01	.;F186A_HUMAN	I	839	ENSP00000441337:L839I;ENSP00000329995:L839I	ENSP00000329995:L839I	L	-	1	0	FAM186A	49034367	0.000000	0.05858	0.039000	0.18376	0.183000	0.23260	0.104000	0.15313	0.545000	0.28902	0.491000	0.48974	CTC			0.428	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396838.1		XM_001718353	
FAM186A	121006	broad.mit.edu	37	12	50754652	50754652	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:50754652G>T	ENST00000327337.5	-	3	469	c.470C>A	c.(469-471)gCa>gAa	p.A157E	FAM186A_ENST00000543111.1_Missense_Mutation_p.A157E	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	157																	CTCCATTTGTGCTATCCAGTG	0.348																																					p.A157E	NSCLC(138;1796 1887 12511 19463 37884)												FAM186A_ENST00000327337,colon,carcinoma,-1,1	FAM186A	181	1	0			c.C470A												149.0	116.0	126.0					12																	50754652		692	1591	2283	SO:0001583	missense	121006	exon3			ATTTGTGCTATCC		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.470C>A	12.37:g.50754652G>T	ENSP00000329995:p.Ala157Glu		Somatic	207	0.0144927536	3		WXS	Illumina HiSeq	Phase_I	316	0.03	8	NM_001145475	0		0		Missense_Mutation	SNP	ENST00000327337.5	37	CCDS44878.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013075	0.35511	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.08282	3.11;3.11	4.82	-0.752	0.11072	.	.	.	.	.	T	0.09730	0.0239	N	0.11201	0.11	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.37596	-0.9699	9	0.30078	T	0.28	.	8.0111	0.30353	0.524:0.0:0.476:0.0	.	157	A6NE01	F186A_HUMAN	E	157	ENSP00000441337:A157E;ENSP00000329995:A157E	ENSP00000329995:A157E	A	-	2	0	FAM186A	49040919	0.018000	0.18449	0.008000	0.14137	0.493000	0.33554	0.317000	0.19487	-0.222000	0.09958	-0.145000	0.13849	GCA			0.348	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396838.1		XM_001718353	
BIN2	51411	broad.mit.edu	37	12	51675288	51675288	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:51675288G>T	ENST00000267012.4	-	13	1754	c.1693C>A	c.(1693-1695)Ctc>Atc	p.L565I	BIN2_ENST00000452142.2_Missense_Mutation_p.L533I|BIN2_ENST00000604560.1_Missense_Mutation_p.N508K|BIN2_ENST00000544402.1_Missense_Mutation_p.L539I	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	565					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCTCTTCAGAGTTGTGGATTT	0.473																																					p.L565I													.	BIN2	58		0			c.C1693A												186.0	164.0	171.0					12																	51675288		2203	4300	6503	SO:0001583	missense	51411	exon13			TTCAGAGTTGTGG	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1693C>A	12.37:g.51675288G>T	ENSP00000267012:p.Leu565Ile		Somatic	162	0.012345679	2		WXS	Illumina HiSeq	Phase_I	228	0.03	6	NM_016293	73	0.00	0	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960848	0.34565	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.71222	-0.55;-0.53;-0.52	3.98	2.16	0.27623	.	2.286840	0.02321	N	0.072975	T	0.60366	0.2263	N	0.24115	0.695	0.09310	N	1	P;P;P	0.44139	0.827;0.827;0.734	B;B;B	0.41510	0.359;0.359;0.196	T	0.54483	-0.8287	10	0.62326	D	0.03	.	6.1397	0.20253	0.2278:0.0:0.7722:0.0	.	539;533;565	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	I	533;565;539	ENSP00000410217:L533I;ENSP00000267012:L565I;ENSP00000445874:L539I	ENSP00000267012:L565I	L	-	1	0	BIN2	49961555	0.179000	0.23135	0.391000	0.26233	0.867000	0.49689	0.382000	0.20635	0.661000	0.30985	0.561000	0.74099	CTC			0.473	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000469800.1			
SLC4A8	9498	broad.mit.edu	37	12	51888759	51888759	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:51888759C>T	ENST00000453097.2	+	21	3017	c.2800C>T	c.(2800-2802)Ccc>Tcc	p.P934S	SLC4A8_ENST00000358657.3_Missense_Mutation_p.P961S	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTTTGGGATGCCCGCAAAGCA	0.502																																					p.P934S													SLC4A8,NS,carcinoma,-2,1	SLC4A8	292	1	0			c.C2800T												143.0	123.0	130.0					12																	51888759		2203	4300	6503	SO:0001583	missense	9498	exon21			GGGATGCCCGCAA	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2800C>T	12.37:g.51888759C>T	ENSP00000405812:p.Pro934Ser		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	298	0.01	4	NM_001039960	8	0.00	0		Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258952	0.95368	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.88818	-2.43;-2.43	5.52	5.52	0.82312	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.89478	3.035	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.97110	0.993;1.0;1.0	D	0.95831	0.8858	10	0.87932	D	0	.	18.5958	0.91229	0.0:1.0:0.0:0.0	.	961;934;934	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	S	961;934;934;881	ENSP00000351483:P961S;ENSP00000405812:P934S	ENSP00000315789:P934S	P	+	1	0	SLC4A8	50175026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CCC			0.502	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404356.1		NM_004858	
ESPL1	9700	broad.mit.edu	37	12	53685533	53685533	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:53685533G>T	ENST00000257934.4	+	26	5671	c.5580G>T	c.(5578-5580)ggG>ggT	p.G1860G	ESPL1_ENST00000552462.1_Silent_p.G1860G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1860					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGCCTACGGGCTGTGCCCAA	0.592																																					p.G1860G	Colon(53;1069 1201 2587 5382)												.	ESPL1	158		0			c.G5580T												137.0	134.0	135.0					12																	53685533		2203	4300	6503	SO:0001819	synonymous_variant	9700	exon26			CTACGGGCTGTGC	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5580G>T	12.37:g.53685533G>T			Somatic	178	0.0056179775	1		WXS	Illumina HiSeq	Phase_I	295	0.01	3	NM_012291	89	0.00	0		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																					0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406899.2		NM_012291	
AAAS	8086	broad.mit.edu	37	12	53714409	53714409	+	Missense_Mutation	SNP	C	C	T	rs151099565		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:53714409C>T	ENST00000209873.4	-	2	356	c.191G>A	c.(190-192)gGc>gAc	p.G64D	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.G64D|AAAS_ENST00000550286.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	64					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGTTCTTGTGCCATGGTCCAG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20025	0.001		0.0	False		,,,				2504	0.0				p.G64D													.	AAAS	46		0			c.G191A												166.0	141.0	150.0					12																	53714409		2203	4300	6503	SO:0001583	missense	8086	exon2			CTTGTGCCATGGT	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.191G>A	12.37:g.53714409C>T	ENSP00000209873:p.Gly64Asp		Somatic	160	0.00625	1		WXS	Illumina HiSeq	Phase_I	246	0.02	6	NM_015665	132	0.00	0	Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	CCDS8856.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.74	2.326133	0.41197	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000547757;ENST00000552161	D;D;T	0.83914	-1.65;-1.78;-1.06	4.53	4.53	0.55603	.	0.170233	0.51477	D	0.000096	T	0.79112	0.4391	N	0.22421	0.69	0.80722	D	1	P;D	0.64830	0.675;0.994	B;P	0.56127	0.173;0.792	T	0.74259	-0.3723	10	0.20046	T	0.44	-15.2095	10.9335	0.47233	0.0:0.8101:0.1899:0.0	.	64;64	Q5JB47;Q9NRG9	.;AAAS_HUMAN	D	64	ENSP00000209873:G64D;ENSP00000377908:G64D;ENSP00000448020:G64D	ENSP00000209873:G64D	G	-	2	0	AAAS	52000676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.384000	0.52478	2.503000	0.84419	0.462000	0.41574	GGC			0.507	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405632.1			
CALCOCO1	57658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	54117502	54117502	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:54117502C>T	ENST00000550804.1	-	4	385	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.V109M|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.V109M			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	109	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCCCACACACCTGGCCCTGG	0.597																																					p.V109M													.	.			0			c.G325A												57.0	59.0	58.0					12																	54117502		2203	4300	6503	SO:0001583	missense	57658	exon4			CACACACCTGGCC	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.325G>A	12.37:g.54117502C>T	ENSP00000449960:p.Val109Met		Somatic	141	0	0		WXS	Illumina HiSeq	.	198	0.18	36	NM_020898	14	0.50	7	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654560	0.67472	.	.	ENSG00000012822	ENST00000262059;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623	T;T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	4.79	3.89	0.44902	.	0.000000	0.41396	D	0.000899	T	0.21427	0.0516	L	0.57536	1.79	0.80722	D	1	B;P;B;P	0.37061	0.409;0.525;0.356;0.58	B;B;B;B	0.37550	0.253;0.164;0.164;0.253	T	0.03103	-1.1072	10	0.62326	D	0.03	-19.9069	8.5106	0.33215	0.0:0.7581:0.1572:0.0847	.	102;109;109;109	B4DG60;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;CACO1_HUMAN	M	109;109;109;102;109;109;109;109;109;129;109;109	ENSP00000262059:V109M;ENSP00000447647:V109M;ENSP00000449960:V109M;ENSP00000450083:V109M;ENSP00000448621:V109M;ENSP00000447117:V109M;ENSP00000449058:V129M;ENSP00000446820:V109M;ENSP00000448026:V109M	ENSP00000262059:V109M	V	-	1	0	CALCOCO1	52403769	0.973000	0.33851	1.000000	0.80357	0.967000	0.64934	1.940000	0.40223	1.309000	0.44985	0.655000	0.94253	GTG			0.597	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000407233.2		NM_020898	
HOXC11	3227	broad.mit.edu	37	12	54367267	54367267	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:54367267G>T	ENST00000546378.1	+	1	358	c.242G>T	c.(241-243)gGc>gTc	p.G81V	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.G81V|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	81					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						GAGCCATCCGGCAAGTGGCAC	0.657			T	NUP98	AML																																p.G81V				Dom	yes		12	12q13.3	3227	homeo box C11		L	.	HOXC11	32		0			c.G242T												95.0	100.0	99.0					12																	54367267		2203	4300	6503	SO:0001583	missense	3227	exon1			CATCCGGCAAGTG		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.242G>T	12.37:g.54367267G>T	ENSP00000446680:p.Gly81Val		Somatic	114	0.0087719298	1		WXS	Illumina HiSeq	Phase_I	182	0.02	3	NM_014212	0		0	A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220210	0.58560	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.43688	0.94;0.94	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.088023	0.85682	D	0.000000	T	0.45518	0.1346	L	0.52573	1.65	0.58432	D	0.999999	P	0.37276	0.589	P	0.46208	0.507	T	0.48875	-0.8996	10	0.87932	D	0	.	10.3898	0.44162	0.0963:0.0:0.9037:0.0	.	81	O43248	HXC11_HUMAN	V	81	ENSP00000446680:G81V;ENSP00000243082:G81V	ENSP00000243082:G81V	G	+	2	0	HOXC11	52653534	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.181000	0.71988	2.386000	0.81285	0.555000	0.69702	GGC			0.657	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358869.2			
RDH5	5959	broad.mit.edu	37	12	56115041	56115041	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:56115041C>T	ENST00000257895.5	+	2	225	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	RDH5_ENST00000547072.1_Intron|RDH5_ENST00000548082.1_Missense_Mutation_p.P25S|RP11-644F5.10_ENST00000550412.1_Intron|RDH5_ENST00000553160.1_Intron|RP11-644F5.10_ENST00000549424.1_Intron	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	25					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	GCAGAGCCTGCCCGCCAGCAA	0.622											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P25S													.	RDH5	25		0			c.C73T												75.0	69.0	71.0					12																	56115041		2203	4300	6503	SO:0001583	missense	5959	exon2			AGCCTGCCCGCCA	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.73C>T	12.37:g.56115041C>T	ENSP00000257895:p.Pro25Ser		Somatic	248	0.0040322581	1	1013	WXS	Illumina HiSeq	Phase_I	329	0.02	7	NM_001199771	1	0.00	0	O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.156119	0.00325	.	.	ENSG00000135437	ENST00000257895;ENST00000548082	T;T	0.74947	-0.89;-0.89	5.11	3.12	0.35913	.	0.616929	0.16857	N	0.196715	T	0.46073	0.1374	N	0.05441	-0.05	0.09310	N	1	B	0.20671	0.047	B	0.15870	0.014	T	0.34700	-0.9818	10	0.05525	T	0.97	.	7.0082	0.24848	0.0:0.5676:0.3414:0.0909	.	25	Q92781	RDH1_HUMAN	S	25	ENSP00000257895:P25S;ENSP00000447128:P25S	ENSP00000257895:P25S	P	+	1	0	RDH5	54401308	0.000000	0.05858	0.958000	0.39756	0.006000	0.05464	0.582000	0.23834	1.275000	0.44379	-0.175000	0.13238	CCC			0.622	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407493.1		NM_002905	
ERBB3	2065	broad.mit.edu	37	12	56491695	56491695	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:56491695G>T	ENST00000267101.3	+	21	3027	c.2587G>T	c.(2587-2589)Gat>Tat	p.D863Y	ERBB3_ENST00000450146.2_Missense_Mutation_p.D220Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D104Y|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.D804Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCTCCTGATGATAAGCAGCT	0.557																																					p.D863Y													.	ERBB3	350		0			c.G2587T												126.0	105.0	112.0					12																	56491695		2203	4300	6503	SO:0001583	missense	2065	exon21			CCTGATGATAAGC	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2587G>T	12.37:g.56491695G>T	ENSP00000267101:p.Asp863Tyr		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	149	0.02	3	NM_001982	32	0.00	0	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337750	0.81911	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.075484	0.53938	D	0.000058	D	0.92264	0.7546	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92153	0.5730	10	0.87932	D	0	.	19.3335	0.94306	0.0:0.0:1.0:0.0	.	863	P21860	ERBB3_HUMAN	Y	863;220;804;104	ENSP00000267101:D863Y;ENSP00000399178:D220Y;ENSP00000408340:D804Y;ENSP00000449129:D104Y	ENSP00000267101:D863Y	D	+	1	0	ERBB3	54777962	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	9.539000	0.98076	2.937000	0.99478	0.650000	0.86243	GAT			0.557	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407619.3			
ZC3H10	84872	mdanderson.org	37	12	56514350	56514350	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:56514350C>T	ENST00000257940.2	+	3	280	c.4C>T	c.(4-6)Cct>Tct	p.P2S	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	2							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GACCAGGATGCCTGACCGGGA	0.607																																					p.P2S													.	.			0			c.C4T												28.0	30.0	29.0					12																	56514350		2202	4299	6501	SO:0001583	missense	84872	exon3			AGGATGCCTGACC	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.4C>T	12.37:g.56514350C>T	ENSP00000257940:p.Pro2Ser		Somatic	34	0.0294117647	1		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_032786	22	0.00	0		Missense_Mutation	SNP	ENST00000257940.2	37	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912976	0.33815	.	.	ENSG00000135482	ENST00000257940;ENST00000552345;ENST00000551880;ENST00000546903	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	N	0.22421	0.69	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.51340	-0.8718	9	0.87932	D	0	-16.0579	17.2103	0.86929	0.0:1.0:0.0:0.0	.	2	Q96K80	ZC3HA_HUMAN	S	2	.	ENSP00000257940:P2S	P	+	1	0	ZC3H10	54800617	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.123000	0.50453	2.676000	0.91093	0.655000	0.94253	CCT			0.607	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407826.1		NM_032786	
BAZ2A	11176	broad.mit.edu	37	12	57000452	57000452	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:57000452G>T	ENST00000551812.1	-	11	2357	c.2164C>A	c.(2164-2166)Caa>Aaa	p.Q722K	BAZ2A_ENST00000549884.1_Missense_Mutation_p.Q720K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.Q692K|BAZ2A_ENST00000179765.5_Missense_Mutation_p.Q690K	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	722	Lys-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTCCCCGTTGAACCTTCTGC	0.398																																					p.Q722K													.	BAZ2A	263		0			c.C2164A												459.0	438.0	445.0					12																	57000452		1949	4147	6096	SO:0001583	missense	11176	exon11			CCCGTTGAACCTT	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2164C>A	12.37:g.57000452G>T	ENSP00000446880:p.Gln722Lys		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	229	0.02	5	NM_013449	4	0.00	0	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.83|11.83	1.756611|1.756611	0.31137|0.31137	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000547650|ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.|T;T;T;T	.|0.26810	.|1.71;1.71;1.71;1.71	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|0.673442	.|0.14545	.|N	.|0.313026	T|T	0.21427|0.21427	0.0516|0.0516	L|L	0.34521|0.34521	1.04|1.04	0.26042|0.26042	N|N	0.981591|0.981591	.|P;P	.|0.45474	.|0.859;0.779	.|P;B	.|0.44394	.|0.448;0.191	T|T	0.05533|0.05533	-1.0879|-1.0879	5|10	.|0.05959	.|T	.|0.93	.|.	14.7394|14.7394	0.69442|0.69442	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|720;722	.|F8VU39;Q9UIF9	.|.;BAZ2A_HUMAN	L|K	147|692;690;722;720	.|ENSP00000368754:Q692K;ENSP00000179765:Q690K;ENSP00000446880:Q722K;ENSP00000447941:Q720K	.|ENSP00000179765:Q690K	F|Q	-|-	3|1	2|0	BAZ2A|BAZ2A	55286719|55286719	0.904000|0.904000	0.30761|0.30761	0.977000|0.977000	0.42913|0.42913	0.988000|0.988000	0.76386|0.76386	4.440000|4.440000	0.59975|0.59975	2.542000|2.542000	0.85734|0.85734	0.563000|0.563000	0.77884|0.77884	TTC|CAA			0.398	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408561.1		NM_013449	
USP15	9958	broad.mit.edu	37	12	62783665	62783666	+	Frame_Shift_Ins	INS	-	-	C	rs371182773		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:62783665_62783666insC	ENST00000280377.5	+	14	1799_1800	c.1741_1742insC	c.(1741-1743)accfs	p.T581fs	USP15_ENST00000393654.3_Frame_Shift_Ins_p.T556fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.T552fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	581	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTCGAGTTATACCCACCATACT	0.386																																					p.T581fs	Melanoma(181;615 2041 39364 49691 50001)												.	USP15	105		0			c.1741_1742insC																																									SO:0001589	frameshift_variant	9958	exon14			AGTTATACCCACC	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1744dupC	12.37:g.62783668_62783668dupC	ENSP00000280377:p.Thr581fs		Somatic	129	0	0		WXS	Illumina HiSeq	Phase_I	178	0.03	6	NM_001252078	21	0.00	0	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Ins	INS	ENST00000280377.5	37	CCDS58251.1																																																																																					0.386	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000407831.2		NM_006313	
OSBPL8	114882	broad.mit.edu	37	12	76780378	76780378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:76780378delC	ENST00000261183.3	-	13	1894	c.1415delG	c.(1414-1416)ggafs	p.G472fs	OSBPL8_ENST00000393250.4_Frame_Shift_Del_p.G430fs|OSBPL8_ENST00000393249.2_Frame_Shift_Del_p.G430fs	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	472					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTATAGAATCCTGACAAATA	0.269																																					p.G472fs													.	OSBPL8	86		0			c.1415delG												58.0	64.0	62.0					12																	76780378		2201	4287	6488	SO:0001589	frameshift_variant	114882	exon13			TAGAATCCTGACA	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1415delG	12.37:g.76780378delC	ENSP00000261183:p.Gly472fs		Somatic	444	0	0		WXS	Illumina HiSeq	Phase_I	658	0.01	7	NM_020841	7	0.00	0	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Frame_Shift_Del	DEL	ENST00000261183.3	37	CCDS31862.1																																																																																					0.269	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000406357.1		NM_020841	
POC1B	282809	broad.mit.edu	37	12	89860639	89860639	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:89860639G>T	ENST00000313546.3	-	9	1068	c.940C>A	c.(940-942)Ctc>Atc	p.L314I	POC1B_ENST00000393179.4_Missense_Mutation_p.L184I|POC1B_ENST00000541909.1_Missense_Mutation_p.L184I|POC1B_ENST00000549504.1_Silent_p.I64I|POC1B_ENST00000378528.2_Silent_p.I100I|POC1B_ENST00000549035.1_Missense_Mutation_p.L272I	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	314					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AATCTTTTGAGATTTCTTTTG	0.358																																					p.L314I													POC1B,NS,carcinoma,+2,1	POC1B	41	1	0			c.C940A												196.0	187.0	190.0					12																	89860639		2203	4300	6503	SO:0001583	missense	282809	exon9			TTTTGAGATTTCT	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.940C>A	12.37:g.89860639G>T	ENSP00000323302:p.Leu314Ile		Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	287	0.02	5	NM_172240	9	0.00	0	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223107	0.39300	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	T;T;T;T	0.59083	0.51;0.29;0.5;0.45	6.03	4.02	0.46733	.	0.417260	0.28431	N	0.015380	T	0.36936	0.0985	L	0.29908	0.895	0.80722	D	1	B	0.18610	0.029	B	0.12837	0.008	T	0.19549	-1.0302	10	0.20046	T	0.44	.	3.0289	0.06099	0.0938:0.1327:0.4862:0.2873	.	314	Q8TC44	POC1B_HUMAN	I	184;314;272;184	ENSP00000376877:L184I;ENSP00000323302:L314I;ENSP00000447916:L272I;ENSP00000440301:L184I	ENSP00000323302:L314I	L	-	1	0	POC1B	88384770	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	2.599000	0.46231	1.517000	0.48917	0.655000	0.94253	CTC			0.358	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406637.1		NM_172240	
SCYL2	55681	broad.mit.edu	37	12	100711674	100711674	+	Missense_Mutation	SNP	G	G	T	rs369328887		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:100711674G>T	ENST00000360820.2	+	10	1803	c.1366G>T	c.(1366-1368)Gca>Tca	p.A456S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	456					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GGTTTACAGAGCACTAGAAGC	0.343																																					p.A456S													.	SCYL2	99		0			c.G1366T												106.0	103.0	104.0					12																	100711674		2203	4299	6502	SO:0001583	missense	55681	exon10			TACAGAGCACTAG	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1366G>T	12.37:g.100711674G>T	ENSP00000354061:p.Ala456Ser		Somatic	213	0.0046948357	1		WXS	Illumina HiSeq	Phase_I	263	0.01	3	NM_017988	9	0.00	0	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648722	0.87958	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.34667	1.35;1.35	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.64404	1.975	0.80722	D	1	P	0.47545	0.897	P	0.54346	0.749	T	0.33189	-0.9878	10	0.19147	T	0.46	.	19.1621	0.93537	0.0:0.0:1.0:0.0	.	456	Q6P3W7	SCYL2_HUMAN	S	456;283;456	ENSP00000448366:A456S;ENSP00000354061:A456S	ENSP00000258506:A283S	A	+	1	0	SCYL2	99235805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.597000	0.87782	0.650000	0.86243	GCA			0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408493.2		NM_017988	
ANO4	121601	broad.mit.edu	37	12	101477466	101477466	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:101477466G>T	ENST00000392977.3	+	16	1616	c.1406G>T	c.(1405-1407)cGa>cTa	p.R469L	ANO4_ENST00000392979.3_Missense_Mutation_p.R434L|ANO4_ENST00000550015.1_Intron|ANO4_ENST00000299222.9_Intron			Q32M45	ANO4_HUMAN	anoctamin 4	469					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAAGAAATACGACCCCAGTTT	0.378										HNSCC(74;0.22)																											p.R434L													ANO4,NS,carcinoma,0,1	ANO4	183	1	0			c.G1301T												99.0	103.0	102.0					12																	101477466		2203	4300	6503	SO:0001583	missense	121601	exon15			AAATACGACCCCA	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1406G>T	12.37:g.101477466G>T	ENSP00000376703:p.Arg469Leu		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	156	0.02	3	NM_178826	0		0	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.377802	0.82682	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.72942	-0.7;-0.7	5.78	5.78	0.91487	.	0.074911	0.53938	D	0.000057	D	0.85444	0.5698	M	0.86864	2.845	0.80722	D	1	D;D	0.55800	0.962;0.973	P;P	0.58820	0.846;0.76	D	0.86723	0.1943	10	0.72032	D	0.01	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	469;434	Q32M45;Q32M45-2	ANO4_HUMAN;.	L	434;469	ENSP00000376705:R434L;ENSP00000376703:R469L	ENSP00000376703:R469L	R	+	2	0	ANO4	100001597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	CGA			0.378	ANO4-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000409295.1		NM_178826	
MYBPC1	4604	broad.mit.edu	37	12	102053522	102053522	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:102053522G>T	ENST00000550270.1	+	17	1765	c.1765G>T	c.(1765-1767)Gct>Tct	p.A589S	MYBPC1_ENST00000536007.1_Missense_Mutation_p.A570S|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A575S|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A589S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A490S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A577S|MYBPC1_ENST00000549145.1_Missense_Mutation_p.A602S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.A589S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A589S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A589S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A614S|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A563S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A614S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A589S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A576S			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	589	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATTGATATAGCTGAAAGAGA	0.443																																					p.A614S													.	MYBPC1	235		0			c.G1840T												135.0	120.0	125.0					12																	102053522		2203	4300	6503	SO:0001583	missense	4604	exon19			GATATAGCTGAAA		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1765G>T	12.37:g.102053522G>T	ENSP00000449702:p.Ala589Ser		Somatic	148	0.0067567568	1		WXS	Illumina HiSeq	Phase_I	192	0.03	5	NM_206819	0		0	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501241	0.64298	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000092	T	0.80476	0.4630	L	0.48362	1.52	0.42452	D	0.99275	B;P;D;P;P;B;P;P;P;P	0.57257	0.277;0.73;0.979;0.885;0.556;0.107;0.684;0.885;0.939;0.861	B;P;D;P;B;B;P;P;P;P	0.66084	0.305;0.669;0.941;0.669;0.403;0.141;0.607;0.728;0.814;0.607	T	0.82192	-0.0579	10	0.87932	D	0	.	19.2175	0.93783	0.0:0.0:1.0:0.0	.	570;577;589;589;576;563;589;589;614;614	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	S	563;589;589;589;576;575;614;602;589;614;589;570;577;614;490;589	ENSP00000448175:A563S;ENSP00000400908:A589S;ENSP00000388989:A589S;ENSP00000353822:A589S;ENSP00000376665:A576S;ENSP00000447362:A575S;ENSP00000354845:A614S;ENSP00000447660:A602S;ENSP00000447900:A589S;ENSP00000440034:A589S;ENSP00000446128:A570S;ENSP00000442847:A577S;ENSP00000354849:A614S;ENSP00000447116:A490S;ENSP00000449702:A589S	ENSP00000353822:A589S	A	+	1	0	MYBPC1	100577653	1.000000	0.71417	0.850000	0.33497	0.707000	0.40811	4.108000	0.57817	2.538000	0.85594	0.655000	0.94253	GCT			0.443	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000408806.1			
GIT2	9815	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	110376285	110376285	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:110376285G>T	ENST00000355312.3	-	18	1902	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	GIT2_ENST00000548655.1_5'UTR|GIT2_ENST00000360185.4_Missense_Mutation_p.P585T|GIT2_ENST00000356259.4_Missense_Mutation_p.P522T|GIT2_ENST00000457474.2_Missense_Mutation_p.P557T|GIT2_ENST00000551209.1_Missense_Mutation_p.P584T|GIT2_ENST00000338373.5_Missense_Mutation_p.P537T|GIT2_ENST00000343646.5_Missense_Mutation_p.P525T|GIT2_ENST00000354574.4_Missense_Mutation_p.P557T|GIT2_ENST00000361006.5_Missense_Mutation_p.P605T|GIT2_ENST00000553118.1_Missense_Mutation_p.P507T|TCHP_ENST00000550780.1_Intron	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	635					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GGGAGAGTGGGGCTTGGGGCC	0.507																																					p.P635T													.	.			0			c.C1903A												204.0	196.0	198.0					12																	110376285		2203	4300	6503	SO:0001583	missense	9815	exon18			GAGTGGGGCTTGG	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1903C>A	12.37:g.110376285G>T	ENSP00000347464:p.Pro635Thr		Somatic	162	0	0		WXS	Illumina HiSeq	.	197	0.06	12	NM_057169	24	0.08	2	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889922	0.52014	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000552978;ENST00000542273;ENST00000546613;ENST00000548000;ENST00000548655	T;T;T;T;T;T;T;T;T;T	0.74002	-0.69;-0.77;-0.6;-0.57;-0.73;-0.55;-0.57;-0.67;-0.65;-0.8	5.78	4.7	0.59300	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.204699	0.53938	D	0.000054	T	0.69269	0.3092	L	0.45581	1.43	0.22880	N	0.998618	B;B;B;B;B;B	0.26318	0.036;0.036;0.0;0.044;0.146;0.016	B;B;B;B;B;B	0.39339	0.164;0.114;0.004;0.253;0.297;0.053	T	0.57406	-0.7817	10	0.30854	T	0.27	.	6.6465	0.22939	0.1254:0.1869:0.6877:0.0	.	557;557;507;635;543;605	Q14161-10;F8WAK2;Q14161-11;Q14161;B4E027;Q14161-5	.;.;.;GIT2_HUMAN;.;.	T	635;585;557;537;525;522;557;605;507;584;21;543;21;37;37	ENSP00000347464:P635T;ENSP00000353312:P585T;ENSP00000346585:P557T;ENSP00000340342:P537T;ENSP00000340938:P525T;ENSP00000348595:P522T;ENSP00000391813:P557T;ENSP00000354282:P605T;ENSP00000447465:P507T;ENSP00000448832:P584T	ENSP00000340342:P537T	P	-	1	0	GIT2	108860668	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.692000	0.47018	2.722000	0.93159	0.650000	0.86243	CCC			0.507	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403407.1		NM_057169	
IFT81	28981	broad.mit.edu	37	12	110565264	110565264	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:110565264G>T	ENST00000242591.5	+	2	585	c.79G>T	c.(79-81)Gat>Tat	p.D27Y	IFT81_ENST00000361948.4_Missense_Mutation_p.D27Y|IFT81_ENST00000552912.1_Missense_Mutation_p.D27Y	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	27	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATCACGTTTGATTCCTTGGA	0.348																																					p.D27Y													.	IFT81	86		0			c.G79T												58.0	55.0	56.0					12																	110565264		2203	4300	6503	SO:0001583	missense	28981	exon2			ACGTTTGATTCCT	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.79G>T	12.37:g.110565264G>T	ENSP00000242591:p.Asp27Tyr		Somatic	263	0.0076045627	2		WXS	Illumina HiSeq	Phase_I	374	0.02	7	NM_014055	10	0.00	0	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570739	0.86542	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.91119	0.4928	10	0.87932	D	0	-26.6014	20.7342	0.99715	0.0:0.0:1.0:0.0	.	27;27	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	Y	27	ENSP00000355372:D27Y;ENSP00000449718:D27Y;ENSP00000242591:D27Y;ENSP00000446950:D27Y	ENSP00000242591:D27Y	D	+	1	0	IFT81	109049647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.402000	0.97298	2.906000	0.99361	0.655000	0.94253	GAT			0.348	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403529.1		NM_014055	
HRK	8739	broad.mit.edu	37	12	117318878	117318878	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:117318878C>A	ENST00000257572.5	-	1	368	c.235G>T	c.(235-237)Gcg>Tcg	p.A79S	HRK_ENST00000552092.1_5'Flank	NM_003806.2	NP_003797.1	O00198	HRK_HUMAN	harakiri, BCL2 interacting protein	79					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0282)		GCCAGCGCCGCCACCTGCGCG	0.766																																					p.A79S													.	HRK	1		0			c.G235T												2.0	2.0	2.0					12																	117318878		1012	2487	3499	SO:0001583	missense	8739	exon1			GCGCCGCCACCTG	U76376	CCDS9181.1	12q24.2	2014-03-07	2014-03-07			ENSG00000135116			5185	protein-coding gene	gene with protein product	"""death protein 5"""	603447	"""harakiri, BCL2-interacting protein (contains only BH3 domain)"""			9130713	Standard	NM_003806		Approved	DP5	uc001twe.4	O00198		ENST00000257572.5:c.235G>T	12.37:g.117318878C>A	ENSP00000257572:p.Ala79Ser		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	11	0.18	2	NM_003806	9	0.00	0		Missense_Mutation	SNP	ENST00000257572.5	37	CCDS9181.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325852	0.60743	.	.	ENSG00000135116	ENST00000257572	.	.	.	3.51	3.51	0.40186	.	0.000000	0.32518	U	0.005981	T	0.39809	0.1092	.	.	.	0.35975	D	0.83559	P	0.43938	0.822	B	0.32805	0.153	T	0.60078	-0.7333	8	0.87932	D	0	-3.1293	12.6365	0.56687	0.0:1.0:0.0:0.0	.	79	O00198	HRK_HUMAN	S	79	.	ENSP00000257572:A79S	A	-	1	0	HRK	115803261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.745000	0.38278	1.788000	0.52465	0.456000	0.33151	GCG			0.766	HRK-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403559.2			
KNTC1	9735	broad.mit.edu	37	12	123087235	123087235	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:123087235G>T	ENST00000333479.7	+	46	4950	c.4773G>T	c.(4771-4773)ctG>ctT	p.L1591L	KNTC1_ENST00000537348.1_Silent_p.L16L|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1591					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAACTAGACTGCCTTTTCACC	0.363																																					p.L1591L													.	KNTC1	182		0			c.G4773T												106.0	98.0	101.0					12																	123087235		1886	4115	6001	SO:0001819	synonymous_variant	9735	exon46			TAGACTGCCTTTT		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4773G>T	12.37:g.123087235G>T			Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	251	0.03	7	NM_014708	46	0.00	0	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																					0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396110.2			
UBC	7316	broad.mit.edu	37	12	125398024	125398024	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:125398024G>A	ENST00000538617.1	-	3	610	c.294C>T	c.(292-294)acC>acT	p.T98T	UBC_ENST00000536769.1_Silent_p.T98T|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.T98T|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.T98T			P0CG48	UBC_HUMAN	ubiquitin C	478	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGTTCTCGATGGTGTCACTGG	0.562																																					p.T98T													UBC,colon,carcinoma,0,2	UBC	79	2	0			c.C294T												289.0	249.0	263.0					12																	125398024		2203	4300	6503	SO:0001819	synonymous_variant	7316	exon2			CTCGATGGTGTCA		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.294C>T	12.37:g.125398024G>A			Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	349	0.01	5	NM_021009	1355	0.00	0	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37																																																																																						0.562	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000400179.1		NM_021009	
GOLGA3	2802	broad.mit.edu	37	12	133351804	133351804	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:133351804G>T	ENST00000450791.2	-	21	4249	c.4066C>A	c.(4066-4068)Ctg>Atg	p.L1356M	GOLGA3_ENST00000204726.3_Missense_Mutation_p.L1356M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L1356M			Q08378	GOGA3_HUMAN	golgin A3	1356	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTGTTCTTCAGCTCCGACACT	0.562																																					p.L1356M													.	GOLGA3	234		0			c.C4066A												93.0	79.0	84.0					12																	133351804		2203	4300	6503	SO:0001583	missense	2802	exon22			TCTTCAGCTCCGA	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4066C>A	12.37:g.133351804G>T	ENSP00000410378:p.Leu1356Met		Somatic	110	0.0090909091	1		WXS	Illumina HiSeq	Phase_I	139	0.04	5	NM_005895	26	0.00	0	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848962	0.51164	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.79454	-1.27;-1.27;1.0	6.07	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.83193	0.5201	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82756	-0.0300	10	0.59425	D	0.04	.	10.2361	0.43284	0.2009:0.0:0.7991:0.0	.	1356;1356	Q08378-2;Q08378	.;GOGA3_HUMAN	M	1356	ENSP00000204726:L1356M;ENSP00000410378:L1356M;ENSP00000409303:L1356M	ENSP00000204726:L1356M	L	-	1	2	GOLGA3	131861877	1.000000	0.71417	0.884000	0.34674	0.382000	0.30200	3.877000	0.56123	0.912000	0.36772	-0.137000	0.14449	CTG			0.562	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397569.2		NM_005895	
CENPJ	55835	hgsc.bcm.edu;broad.mit.edu	37	13	25480948	25480948	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:25480948G>T	ENST00000381884.4	-	7	1413	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q410K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	410					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AACAGCGGCTGGTCCTCGGAA	0.403																																					p.Q410K													.	.			0			c.C1228A												88.0	86.0	87.0					13																	25480948		2203	4300	6503	SO:0001583	missense	55835	exon7			GCGGCTGGTCCTC	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1228C>A	13.37:g.25480948G>T	ENSP00000371308:p.Gln410Lys		Somatic	122	0	0		WXS	Illumina HiSeq	.	111	0.05	6	NM_018451	3	0.00	0	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409110	0.25378	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18174	2.23;2.23	5.75	4.9	0.64082	.	0.445891	0.23063	N	0.052347	T	0.20981	0.0505	M	0.76574	2.34	0.22240	N	0.999263	B	0.10296	0.003	B	0.08055	0.003	T	0.24870	-1.0148	10	0.14656	T	0.56	.	13.5366	0.61650	0.0:0.0:0.7175:0.2825	.	410	Q9HC77	CENPJ_HUMAN	K	410	ENSP00000371308:Q410K;ENSP00000441090:Q410K	ENSP00000371308:Q410K	Q	-	1	0	CENPJ	24378948	0.004000	0.15560	0.270000	0.24601	0.267000	0.26476	1.060000	0.30530	1.438000	0.47492	0.655000	0.94253	CAG			0.403	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044209.1		NM_018451	
FLT3	2322	broad.mit.edu	37	13	28578254	28578254	+	Nonsense_Mutation	SNP	G	G	A	rs191501493		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:28578254G>A	ENST00000241453.7	-	24	2998	c.2917C>T	c.(2917-2919)Cga>Tga	p.R973*	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000380982.4_Nonsense_Mutation_p.R976*|FLT3_ENST00000537084.1_Nonsense_Mutation_p.R932*	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	973					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAAAGGTCGCCTGTTTTGG	0.468			"""Mis, O"""		"""AML, ALL"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		17294	0.001		0.0	False		,,,				2504	0.0				p.R973X				Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	FLT3,colon,carcinoma,0,1	FLT3	15525	1	0			c.C2917T												125.0	112.0	117.0					13																	28578254		2203	4300	6503	SO:0001587	stop_gained	2322	exon24			AAGGTCGCCTGTT	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2917C>T	13.37:g.28578254G>A	ENSP00000241453:p.Arg973*		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	115	0.03	3	NM_004119	3	0.00	0	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Nonsense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	33	5.218730	0.95104	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	4.54	1.47	0.22746	.	0.934398	0.08923	N	0.874192	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2627	0.10749	0.1161:0.0:0.442:0.4419	.	.	.	.	X	973;976;932	.	ENSP00000241453:R973X	R	-	1	2	FLT3	27476254	0.598000	0.26882	0.573000	0.28510	0.167000	0.22549	0.763000	0.26517	0.484000	0.27630	-0.314000	0.08810	CGA			0.468	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000044319.2			
KPNA3	3839	broad.mit.edu	37	13	50306542	50306543	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:50306542_50306543insA	ENST00000261667.3	-	6	761_762	c.347_348insT	c.(346-348)ttafs	p.L116fs		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	116					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTAGAATTGGTAAAATCCCAGA	0.282																																					p.L116fs													.	KPNA3	53		0			c.348_349insT																																									SO:0001589	frameshift_variant	3839	exon6			AATTGGTAAAATC	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.348dupT	13.37:g.50306546_50306546dupA	ENSP00000261667:p.Leu116fs		Somatic	451	0	0		WXS	Illumina HiSeq	Phase_I	399	0.02	9	NM_002267	8	0.00	0	O00191|O43195|Q5JVM9|Q96AA7	Frame_Shift_Ins	INS	ENST00000261667.3	37	CCDS9421.1																																																																																					0.282	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044939.2		NM_002267	
SLC15A1	6564	broad.mit.edu	37	13	99371514	99371514	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:99371514G>T	ENST00000376503.5	-	8	672	c.617C>A	c.(616-618)gCt>gAt	p.A206D		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	206					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATGAGAGCAGCAGGAACCCC	0.433																																					p.A206D													.	SLC15A1	92		0			c.C617A												144.0	146.0	146.0					13																	99371514		2203	4300	6503	SO:0001583	missense	6564	exon8			AGAGCAGCAGGAA	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.617C>A	13.37:g.99371514G>T	ENSP00000365686:p.Ala206Asp		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	112	0.03	3	NM_005073	2	0.00	0	Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379997	0.95945	.	.	ENSG00000088386	ENST00000376503	T	0.08102	3.13	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61773	-0.6994	10	0.87932	D	0	-20.999	20.2789	0.98501	0.0:0.0:1.0:0.0	.	206	P46059	S15A1_HUMAN	D	206	ENSP00000365686:A206D	ENSP00000365686:A206D	A	-	2	0	SLC15A1	98169515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.823000	0.99369	2.788000	0.95919	0.650000	0.86243	GCT			0.433	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045560.3		NM_005073	
GRK1	6011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	114325882	114325882	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:114325882C>T	ENST00000335678.6	+	3	1128	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TTCTACACGGCGCAGATCATC	0.627																																					p.A299V													.	.			0			c.C896T												37.0	42.0	40.0					13																	114325882		2069	4205	6274	SO:0001583	missense	6011	exon3			ACACGGCGCAGAT			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.896C>T	13.37:g.114325882C>T	ENSP00000334876:p.Ala299Val		Somatic	30	0	0		WXS	Illumina HiSeq	.	25	0.32	8	NM_002929	0		0	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37		.	.	.	.	.	.	.	.	.	.	c	25.6	4.650763	0.87958	.	.	ENSG00000185974	ENST00000335678	T	0.24723	1.84	4.43	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.58940	-0.7547	9	0.87932	D	0	-25.8914	14.8992	0.70666	0.0:1.0:0.0:0.0	.	299	Q15835	RK_HUMAN	V	299	ENSP00000334876:A299V	ENSP00000334876:A299V	A	+	2	0	GRK1	113373883	1.000000	0.71417	0.935000	0.37517	0.713000	0.41058	6.987000	0.76206	2.148000	0.66965	0.506000	0.49869	GCG			0.627	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470655.1		NM_002929	
RPGRIP1	57096	broad.mit.edu	37	14	21756201	21756201	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:21756201G>T	ENST00000400017.2	+	1	66	c.66G>T	c.(64-66)ctG>ctT	p.L22L	RPGRIP1_ENST00000206660.6_Silent_p.L22L|RPGRIP1_ENST00000557771.1_Silent_p.L22L|RPGRIP1_ENST00000556336.1_Silent_p.L22L	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	22					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTATACCTCTGGTGCTACCAG	0.473																																					p.L22L													.	RPGRIP1	213		0			c.G66T												152.0	138.0	142.0					14																	21756201		1893	4118	6011	SO:0001819	synonymous_variant	57096	exon1			ACCTCTGGTGCTA	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.66G>T	14.37:g.21756201G>T			Somatic	170	0.0176470588	3		WXS	Illumina HiSeq	Phase_I	173	0.03	6	NM_020366	0		0	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	CCDS45080.1																																																																																					0.473	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410258.1		NM_020366	
PSME2	5721	mdanderson.org	37	14	24612871	24612871	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:24612871G>A	ENST00000216802.5	-	10	1201	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_5'Flank|EMC9_ENST00000419198.2_5'Flank|EMC9_ENST00000216799.4_5'Flank|PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.R177W	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		ACCAAGGCCCGGTAATCCATC	0.527																																					p.R188W													PSME2,NS,carcinoma,0,3	PSME2	0	3	0			c.C562T												67.0	68.0	68.0					14																	24612871		2203	4300	6503	SO:0001583	missense	5721	exon10			AGGCCCGGTAATC		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.562C>T	14.37:g.24612871G>A	ENSP00000216802:p.Arg188Trp		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_002818	643	0.00	1	Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183745	0.57800	.	.	ENSG00000100911	ENST00000216802	T	0.51817	0.69	4.84	4.84	0.62591	Proteasome activator pa28, REG beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	M	0.74881	2.28	0.80722	D	1	B	0.25743	0.133	B	0.14023	0.01	T	0.51826	-0.8656	10	0.59425	D	0.04	2.2321	13.6179	0.62120	0.0:0.0:1.0:0.0	.	188	Q9UL46	PSME2_HUMAN	W	188	ENSP00000216802:R188W	ENSP00000216802:R188W	R	-	1	2	PSME2	23682711	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.326000	0.59241	2.680000	0.91292	0.561000	0.74099	CGG			0.527	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071918.3		NM_002818	
ADCY4	196883	broad.mit.edu	37	14	24795332	24795332	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:24795332G>A	ENST00000310677.4	-	13	1721	c.1608C>T	c.(1606-1608)acC>acT	p.T536T	ADCY4_ENST00000554068.2_Silent_p.T536T|ADCY4_ENST00000418030.2_Silent_p.T536T|ADCY4_ENST00000396747.3_Silent_p.T229T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	536					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGGCATCCCCGGTGTCCAGTT	0.597																																					p.T536T													.	ADCY4	86		0			c.C1608T												83.0	79.0	80.0					14																	24795332		2203	4300	6503	SO:0001819	synonymous_variant	196883	exon13			ATCCCCGGTGTCC	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1608C>T	14.37:g.24795332G>A			Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	114	0.04	5	NM_001198592	2	0.00	0	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328042	0.24080	.	.	ENSG00000129467	ENST00000556932	.	.	.	4.58	-9.16	0.00694	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	.	5.2021	0.15271	0.3102:0.0:0.4286:0.2612	.	.	.	.	L	109	.	.	P	-	2	0	ADCY4	23865172	0.001000	0.12720	0.844000	0.33320	0.968000	0.65278	-3.222000	0.00551	-1.817000	0.01219	-0.423000	0.05987	CCG			0.597	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000073200.4			
OTX2	5015	mdanderson.org	37	14	57268936	57268936	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:57268936G>T	ENST00000555006.1	-	4	795	c.387C>A	c.(385-387)ggC>ggA	p.G129G	OTX2_ENST00000339475.5_Silent_p.G137G|OTX2_ENST00000554559.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Silent_p.G129G|OTX2_ENST00000554788.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2	129					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAGTGAATTGGCCACTTGTTC	0.527																																					p.G137G													.	.			0			c.C411A												102.0	91.0	94.0					14																	57268936		2203	4300	6503	SO:0001819	synonymous_variant	5015	exon3			GAATTGGCCACTT	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.387C>A	14.37:g.57268936G>T			Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	59	0.05	3	NM_001270525	25	0.00	0	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Silent	SNP	ENST00000555006.1	37	CCDS41960.1																																																																																					0.527	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411522.1		NM_021728.	
YLPM1	56252	broad.mit.edu	37	14	75295965	75295965	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:75295965G>T	ENST00000552421.1	+	18	4219	c.4095G>T	c.(4093-4095)gaG>gaT	p.E1365D	YLPM1_ENST00000325680.7_Missense_Mutation_p.E2071D			P49750	YLPM1_HUMAN	YLP motif containing 1	1876					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTGACTGGGAGGCCATTGCCA	0.478																																					p.E2071D													.	YLPM1	298		0			c.G6213T												146.0	139.0	141.0					14																	75295965		1988	4164	6152	SO:0001583	missense	56252	exon19			CTGGGAGGCCATT	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4095G>T	14.37:g.75295965G>T	ENSP00000447921:p.Glu1365Asp		Somatic	211	0	0		WXS	Illumina HiSeq	Phase_I	231	0.02	5	NM_019589	133	0.00	0	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278040	0.59758	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.79	4.71	0.59529	.	0.000000	0.64402	D	0.000004	T	0.47801	0.1465	L	0.34521	1.04	0.80722	D	1	P	0.40970	0.734	P	0.46510	0.519	T	0.45906	-0.9229	9	0.52906	T	0.07	-14.5526	10.3415	0.43882	0.146:0.0:0.854:0.0	.	2071	P49750-4	.	D	1365;2071;1784	.	ENSP00000324463:E2071D	E	+	3	2	YLPM1	74365718	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.536000	0.36072	2.724000	0.93272	0.557000	0.71058	GAG			0.478	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000404450.1		NM_019589	
TECPR2	9895	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	14	102904488	102904488	+	Missense_Mutation	SNP	C	C	G	rs368111236		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:102904488C>G	ENST00000359520.7	+	10	2750	c.2524C>G	c.(2524-2526)Ctg>Gtg	p.L842V	TECPR2_ENST00000558678.1_Missense_Mutation_p.L842V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	842					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGGCGCCGGGCTGCGCTGGCA	0.657											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L842V													.	.			0			c.C2524G												66.0	69.0	68.0					14																	102904488		2203	4299	6502	SO:0001583	missense	9895	exon10			GCCGGGCTGCGCT	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2524C>G	14.37:g.102904488C>G	ENSP00000352510:p.Leu842Val		Somatic	60	0	0	1370	WXS	Illumina HiSeq	.	61	0.07	4	NM_001172631	8	0.13	1	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289132	0.59976	.	.	ENSG00000196663	ENST00000359520	T	0.16597	2.33	5.83	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	L	0.34521	1.04	0.50632	D	0.999885	P;P	0.49635	0.926;0.926	B;B	0.40134	0.256;0.32	T	0.03750	-1.1007	10	0.51188	T	0.08	.	11.989	0.53163	0.1217:0.8128:0.0:0.0655	.	842;842	A5PKY3;O15040	.;TCPR2_HUMAN	V	842	ENSP00000352510:L842V	ENSP00000352510:L842V	L	+	1	2	TECPR2	101974241	0.996000	0.38824	1.000000	0.80357	0.864000	0.49448	3.210000	0.51129	1.595000	0.50050	0.644000	0.83932	CTG			0.657	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415056.2		NM_014844	
AHNAK2	113146	broad.mit.edu	37	14	105413995	105413995	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:105413995G>T	ENST00000333244.5	-	7	7912	c.7793C>A	c.(7792-7794)cCc>cAc	p.P2598H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2598						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCGCCTTGGGGCCTTTCAG	0.617																																					p.P2598H													.	AHNAK2	719		0			c.C7793A												123.0	135.0	131.0					14																	105413995		1865	4092	5957	SO:0001583	missense	113146	exon7			GCCTTGGGGCCTT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7793C>A	14.37:g.105413995G>T	ENSP00000353114:p.Pro2598His		Somatic	210	0.0047619048	1		WXS	Illumina HiSeq	Phase_I	237	0.02	4	NM_138420	0		0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	15.32	2.797709	0.50208	.	.	ENSG00000185567	ENST00000333244	T	0.03242	4.0	3.56	3.56	0.40772	.	.	.	.	.	T	0.16685	0.0401	M	0.70842	2.15	0.28732	N	0.902457	D	0.89917	1.0	D	0.72075	0.976	T	0.01476	-1.1345	9	0.56958	D	0.05	.	15.1833	0.72978	0.0:0.0:1.0:0.0	.	2598	Q8IVF2	AHNK2_HUMAN	H	2598	ENSP00000353114:P2598H	ENSP00000353114:P2598H	P	-	2	0	AHNAK2	104485040	0.001000	0.12720	0.031000	0.17742	0.245000	0.25701	0.434000	0.21494	1.543000	0.49345	0.485000	0.47835	CCC			0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420	
Unknown	0	bcgsc.ca	37	15	20433934	20433934	+	IGR	SNP	G	G	A	rs181123873		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:20433934G>A								RP11-173D3.1 (80728 upstream) : CHEK2P2 (54062 downstream)																							CTTGACCTGAGGCCGTGCAGC	0.517																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			ACCTGAGGCCGTG																													15.37:g.20433934G>A			Somatic	322	0.0931677019	30		WXS	Illumina HiSeq	Phase_1	179	0.16	29	.	3	0.00	0		RNA	SNP		37																																																																																					0	0.517										
OR4N3P	390539	bcgsc.ca	37	15	22413817	22413817	+	IGR	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:22413817C>A								RP11-69H14.6 (30009 upstream) : RP11-2F9.4 (20072 downstream)																							GTTGTGATGGCCTTTGACCGC	0.502																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	390539	.			TGATGGCCTTTGA																													15.37:g.22413817C>A			Somatic	338	0.0059171598	2		WXS	Illumina HiSeq	Phase_1	168	0.06	10	.	0		0		RNA	SNP		37																																																																																					0	0.502										
PLA2G4F	255189	mdanderson.org	37	15	42439368	42439368	+	Missense_Mutation	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:42439368A>G	ENST00000382396.4	-	13	1459	c.1373T>C	c.(1372-1374)cTc>cCc	p.L458P	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.L460P			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	458	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGGTCGATGAGGGACACGCT	0.587																																					p.L458P													.	.			0			c.T1373C												56.0	51.0	53.0					15																	42439368		2203	4299	6502	SO:0001583	missense	255189	exon13			TCGATGAGGGACA		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1373T>C	15.37:g.42439368A>G	ENSP00000371833:p.Leu458Pro		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_213600	0		0	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	A	5.921	0.353992	0.11182	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.20069	2.1;2.1	5.11	3.98	0.46160	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.399608	0.23187	N	0.050958	T	0.27489	0.0675	M	0.76002	2.32	0.38781	D	0.954765	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.06552	-1.0820	10	0.72032	D	0.01	-11.4994	13.1293	0.59371	0.9295:0.0:0.0705:0.0	.	245;458	A2RRC4;Q68DD2	.;PA24F_HUMAN	P	454;460;458;458	ENSP00000380442:L460P;ENSP00000371833:L458P	ENSP00000290497:L454P	L	-	2	0	PLA2G4F	40226660	0.996000	0.38824	0.085000	0.20634	0.001000	0.01503	4.246000	0.58740	0.359000	0.24239	-1.447000	0.01057	CTC			0.587	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000420463.1		NM_213600	
CAPN3	825	broad.mit.edu	37	15	42703172	42703172	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:42703172G>T	ENST00000397163.3	+	22	2573	c.2354G>T	c.(2353-2355)tGc>tTc	p.C785F	CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000356316.3_Missense_Mutation_p.C692F|CAPN3_ENST00000561817.1_Missense_Mutation_p.C120F|CAPN3_ENST00000337571.4_Missense_Mutation_p.C120F|CAPN3_ENST00000397204.4_Missense_Mutation_p.C120F|CAPN3_ENST00000357568.3_Missense_Mutation_p.C779F|CAPN3_ENST00000569136.1_Missense_Mutation_p.C120F|CAPN3_ENST00000318023.7_Missense_Mutation_p.C779F|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.C693F|CAPN3_ENST00000397200.4_Missense_Mutation_p.C273F	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	785	Domain IV.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTCATCTGCTGCTTCGTTAGG	0.522																																					p.C785F													.	CAPN3	172		0			c.G2354T												203.0	163.0	176.0					15																	42703172		2203	4299	6502	SO:0001583	missense	825	exon22			TCTGCTGCTTCGT	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2354G>T	15.37:g.42703172G>T	ENSP00000380349:p.Cys785Phe		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	66	0.08	5	NM_000070	9	0.00	0	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917617	0.92249	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	D	0.97056	0.9038	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.998;0.999;0.999	D	0.97240	0.9890	10	0.87932	D	0	.	19.3595	0.94431	0.0:0.0:1.0:0.0	.	650;698;120;693;779;785;692	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	F	692;273;785;779;693;779;273;120;120	ENSP00000348667:C692F;ENSP00000380349:C785F;ENSP00000350181:C779F;ENSP00000183936:C693F;ENSP00000326281:C779F;ENSP00000380384:C273F;ENSP00000336840:C120F;ENSP00000380387:C120F	ENSP00000326281:C779F	C	+	2	0	CAPN3	40490464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.818000	0.97014	0.655000	0.94253	TGC			0.522	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421075.1			
SEMA6D	80031	broad.mit.edu	37	15	48058773	48058773	+	Intron	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:48058773G>T	ENST00000316364.5	+	16	2085				SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000536845.2_Intron|SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000358066.4_Splice_Site|SEMA6D_ENST00000389432.2_Splice_Site|SEMA6D_ENST00000355997.3_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCCTATGAAGGCTGTTAACC	0.408																																					.													.	SEMA6D	322		0			c.1647-1G>T												163.0	135.0	144.0					15																	48058773		2198	4297	6495	SO:0001627	intron_variant	80031	exon19			TATGAAGGCTGTT	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1647-40G>T	15.37:g.48058773G>T			Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	102	0.04	4	NM_001198999	0		0	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Splice_Site	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897730	0.33535	.	.	ENSG00000137872	ENST00000537942;ENST00000389432;ENST00000358066	.	.	.	5.6	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5628	0.33520	0.0:0.137:0.646:0.217	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA6D	45846065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.513000	0.45494	2.631000	0.89168	0.655000	0.94253	.			0.408	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416868.1		NM_024966	
DMXL2	23312	mdanderson.org	37	15	51791559	51791559	+	Missense_Mutation	SNP	A	A	T	rs12102203	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:51791559A>T	ENST00000251076.5	-	18	4149	c.3862T>A	c.(3862-3864)Tct>Act	p.S1288T	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1288T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1288			S -> P (in dbSNP:rs12102203). {ECO:0000269|PubMed:10048485, ECO:0000269|PubMed:15489334}.			cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.S1288P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTGCATTAGAACTATCAGCT	0.398																																					p.S1288T													DMXL2,NS,carcinoma,0,1	DMXL2	0	1	1	Substitution - Missense(1)	stomach(1)	c.T3862A												166.0	164.0	165.0					15																	51791559		2194	4293	6487	SO:0001583	missense	23312	exon18			CATTAGAACTATC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3862T>A	15.37:g.51791559A>T	ENSP00000251076:p.Ser1288Thr		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	84	0.04	3	NM_001174116	0		0	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.294358	0.01375	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.21191	2.02;2.02	5.66	1.7	0.24286	.	0.673581	0.16046	N	0.232187	T	0.14013	0.0339	L	0.31664	0.95	0.54753	P	1.399999999995849E-5	B;B	0.12630	0.006;0.004	B;B	0.17433	0.018;0.007	T	0.23154	-1.0196	9	0.22706	T	0.39	.	9.3262	0.37995	0.5114:0.0:0.4885:0.0	.	1288;1288	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	T	1288	ENSP00000251076:S1288T;ENSP00000441858:S1288T	ENSP00000251076:S1288T	S	-	1	0	DMXL2	49578851	0.605000	0.26941	0.679000	0.29978	0.067000	0.16453	0.251000	0.18257	0.088000	0.17205	-0.186000	0.12905	TCT			0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000254671.2		NM_015263	
CCPG1	9236	hgsc.bcm.edu	37	15	55657628	55657628	+	Intron	SNP	T	T	G	rs369364180|rs200853518	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:55657628T>G	ENST00000310958.6	-	7	1005				CCPG1_ENST00000569205.1_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1						cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		ttttttttttttgtttttttt	0.313													T|||	160	0.0319489	0.0121	0.0461	5008	,	,		16000	0.0129		0.0646	False		,,,				2504	0.0348				.													.	.			0			.																																									SO:0001627	intron_variant	100533483	.			TTTTTTTTGTTTT	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.707-121A>C	15.37:g.55657628T>G			Somatic	55	0	0		WXS	Illumina HiSeq	.	61	0.23	14	.	0		0	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	RNA	SNP	ENST00000310958.6	37	CCDS42039.1																																																																																					0.313	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000419850.1		NM_004748	
ZNF280D	54816	broad.mit.edu	37	15	56981569	56981569	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:56981569G>T	ENST00000267807.7	-	8	815	c.599C>A	c.(598-600)gCa>gAa	p.A200E	ZNF280D_ENST00000559237.1_Missense_Mutation_p.A187E|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.A187E	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGAGGAATTTGCTCCAGAAAC	0.363																																					p.A200E													.	ZNF280D	82		0			c.C599A												86.0	89.0	88.0					15																	56981569		2192	4292	6484	SO:0001583	missense	54816	exon8			GAATTTGCTCCAG	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.599C>A	15.37:g.56981569G>T	ENSP00000267807:p.Ala200Glu		Somatic	211	0.0047393365	1		WXS	Illumina HiSeq	Phase_I	193	0.03	5	NM_017661	1	0.00	0	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.106755	0.01813	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435	T	0.24151	1.87	4.87	0.419	0.16438	.	6.082410	0.00397	N	0.000057	T	0.10294	0.0252	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.24317	0.101;0.042	B;B	0.33620	0.167;0.068	T	0.39057	-0.9632	10	0.02654	T	1	0.4354	5.6497	0.17610	0.2428:0.2426:0.5145:0.0	.	263;200	B4DHL1;Q6N043	.;Z280D_HUMAN	E	200;187;36	ENSP00000267807:A200E	ENSP00000260435:A36E	A	-	2	0	ZNF280D	54768861	0.352000	0.24895	0.016000	0.15963	0.001000	0.01503	0.601000	0.24119	0.176000	0.19873	-0.157000	0.13467	GCA			0.363	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000418891.2		XM_370867	
VPS13C	54832	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	62212292	62212292	+	Missense_Mutation	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:62212292T>C	ENST00000261517.5	-	57	7524	c.7451A>G	c.(7450-7452)gAa>gGa	p.E2484G	VPS13C_ENST00000395898.3_Missense_Mutation_p.E2441G|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2441G|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2484G	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAGGAGCTTTCTTGACGGCT	0.398																																					p.E2484G													.	.			0			c.A7451G												102.0	100.0	101.0					15																	62212292		2203	4299	6502	SO:0001583	missense	54832	exon57			GAGCTTTCTTGAC	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7451A>G	15.37:g.62212292T>C	ENSP00000261517:p.Glu2484Gly		Somatic	178	0	0		WXS	Illumina HiSeq	.	157	0.10	15	NM_020821	1	1.00	1		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246772	0.80024	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.47869	0.83;0.83;1.0	5.56	5.56	0.83823	.	0.103879	0.64402	D	0.000005	T	0.62024	0.2394	M	0.75447	2.3	0.80722	D	1	P;P;P;D	0.54772	0.868;0.726;0.868;0.968	P;B;P;P	0.54590	0.669;0.3;0.572;0.756	T	0.62435	-0.6855	10	0.34782	T	0.22	.	15.7083	0.77602	0.0:0.0:0.0:1.0	.	2441;2484;2441;2484	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	G	2441;2484;2484;2484	ENSP00000249837:E2441G;ENSP00000261517:E2484G;ENSP00000379233:E2484G	ENSP00000249837:E2441G	E	-	2	0	VPS13C	59999584	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	7.661000	0.83786	2.106000	0.64143	0.528000	0.53228	GAA			0.398	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000415997.1		NM_017684	
ZNF609	23060	broad.mit.edu	37	15	64791875	64791875	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:64791875G>T	ENST00000326648.3	+	1	385	c.257G>T	c.(256-258)gGc>gTc	p.G86V	ZNF609_ENST00000416172.1_Missense_Mutation_p.G86V	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	86						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGAAGGAAGGCAAATCAAAA	0.527																																					p.G86V													.	ZNF609	106		0			c.G257T												103.0	95.0	98.0					15																	64791875		2203	4300	6503	SO:0001583	missense	23060	exon1			AGGAAGGCAAATC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.257G>T	15.37:g.64791875G>T	ENSP00000316527:p.Gly86Val		Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	223	0.01	3	NM_015042	1	0.00	0	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	17.26	3.343697	0.61073	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.41400	1.0	5.5	5.5	0.81552	.	0.051845	0.85682	D	0.000000	T	0.49695	0.1572	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.72075	0.976;0.858	T	0.43130	-0.9410	10	0.39692	T	0.17	-7.7749	15.269	0.73683	0.0:0.1398:0.8602:0.0	.	86;86	E7ERY8;O15014	.;ZN609_HUMAN	V	86	ENSP00000316527:G86V	ENSP00000316527:G86V	G	+	2	0	ZNF609	62578928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.817000	0.86213	2.747000	0.94245	0.651000	0.88453	GGC			0.527	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418130.1		XM_042833	
KBTBD13	390594	broad.mit.edu	37	15	65370090	65370090	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:65370090C>T	ENST00000432196.2	+	1	937	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	313					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.R313W(1)		lung(1)|prostate(1)|skin(1)	3						GTGCCTGTGGCGGCCGGCCGA	0.736																																					p.R313W													KBTBD13,NS,carcinoma,0,1	KBTBD13	9	1	1	Substitution - Missense(1)	prostate(1)	c.C937T												3.0	5.0	4.0					15																	65370090		1386	3234	4620	SO:0001583	missense	390594	exon1			CTGTGGCGGCCGG		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.937C>T	15.37:g.65370090C>T	ENSP00000388723:p.Arg313Trp		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	25	0.08	2	NM_001101362	0		0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215400	0.58452	.	.	ENSG00000234438	ENST00000432196	T	0.66995	-0.24	5.15	0.634	0.17718	Kelch-type beta propeller (1);	.	.	.	.	T	0.54791	0.1880	L	0.29908	0.895	0.40823	D	0.983526	D	0.58620	0.983	B	0.43018	0.405	T	0.56481	-0.7972	9	0.39692	T	0.17	.	15.1395	0.72599	0.672:0.328:0.0:0.0	.	313	C9JR72	KBTBD_HUMAN	W	313	ENSP00000388723:R313W	ENSP00000388723:R313W	R	+	1	2	KBTBD13	63157143	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	1.689000	0.37700	0.136000	0.18733	0.561000	0.74099	CGG			0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418468.2		NM_001101362	
IDH3A	3419	mdanderson.org	37	15	78453923	78453923	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:78453923G>T	ENST00000299518.2	+	5	373	c.290G>T	c.(289-291)gGc>gTc	p.G97V	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000441490.2_5'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	97					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						TGTATAACAGGCCCTTTGAAG	0.473																																					p.G97V													.	.			0			c.G290T												94.0	86.0	89.0					15																	78453923		2196	4293	6489	SO:0001630	splice_region_variant	3419	exon5			TAACAGGCCCTTT		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.290-1G>T	15.37:g.78453923G>T			Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	43	0.09	4	NM_005530	34	0.00	0	D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679100	0.96764	.	.	ENSG00000166411	ENST00000299518	T	0.78595	-1.19	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.92734	0.7690	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94299	0.7535	9	.	.	.	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	97	P50213	IDH3A_HUMAN	V	97	ENSP00000299518:G97V	.	G	+	2	0	IDH3A	76240978	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.594000	0.98254	2.857000	0.98124	0.650000	0.86243	GGC			0.473	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000289799.4		NM_005530	Missense_Mutation
RASGRF1	5923	broad.mit.edu	37	15	79382723	79382723	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:79382723G>T	ENST00000419573.3	-	1	392	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q40K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	40	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CACTTGGTTTGCCATTTTGTG	0.622																																					p.Q40K													.	RASGRF1	168		0			c.C118A												179.0	136.0	150.0					15																	79382723		2196	4293	6489	SO:0001583	missense	5923	exon1			TGGTTTGCCATTT	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.118C>A	15.37:g.79382723G>T	ENSP00000405963:p.Gln40Lys		Somatic	48	0.0208333333	1		WXS	Illumina HiSeq	Phase_I	42	0.10	4	NM_001145648	0		0	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.220206	0.58560	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.09163	3.01	4.03	4.03	0.46877	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.079193	0.51477	D	0.000093	T	0.09686	0.0238	L	0.37897	1.145	0.80722	D	1	B;B;B	0.13594	0.008;0.008;0.002	B;B;B	0.17979	0.009;0.02;0.009	T	0.15321	-1.0441	10	0.21540	T	0.41	.	13.7315	0.62789	0.0:0.0:1.0:0.0	.	40;40;40	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	K	40	ENSP00000405963:Q40K	ENSP00000378224:Q40K	Q	-	1	0	RASGRF1	77169778	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.624000	0.90961	2.091000	0.63221	0.313000	0.20887	CAA			0.622	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000291371.3		NM_002891	
AKAP13	11214	broad.mit.edu	37	15	86266551	86266551	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:86266551G>T	ENST00000394518.2	+	26	6840	c.6745G>T	c.(6745-6747)Gag>Tag	p.E2249*	AKAP13_ENST00000394510.2_Splice_Site_p.E494*|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000361243.2_Splice_Site_p.E2253*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2249	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGGTTGAAAGGTAAGGCTTG	0.423																																					p.E2253X	Melanoma(94;603 1453 3280 32295 32951)												.	AKAP13	394		0			c.G6757T												124.0	105.0	111.0					15																	86266551		2202	4299	6501	SO:0001630	splice_region_variant	11214	exon26			TTGAAAGGTAAGG	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6745+1G>T	15.37:g.86266551G>T			Somatic	117	0.0170940171	2		WXS	Illumina HiSeq	Phase_I	106	0.04	4	NM_006738	2	0.00	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Splice_Site	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	49	15.169475	0.99824	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	.	.	.	X	329;2253;2249;2252;2228;494	.	ENSP00000354718:E2253X	E	+	1	0	AKAP13	84067555	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.357000	0.97099	2.690000	0.91761	0.655000	0.94253	GAG			0.423	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000417318.1		NM_007200	Nonsense_Mutation
CHTF18	63922	mdanderson.org	37	16	839620	839620	+	Missense_Mutation	SNP	C	C	T	rs373908849	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:839620C>T	ENST00000262315.9	+	4	574	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	RPUSD1_ENST00000565809.1_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Missense_Mutation_p.P199S|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.P368S	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	171					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTGAGGCGGCCCCCCATCTT	0.677													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16335	0.0		0.0	False		,,,				2504	0.0				p.P171S													.	.			0			c.C511T							C	SER/PRO	1,4125		0,1,2062	40.0	47.0	45.0		511	5.2	1.0	16		45	0,8372		0,0,4186	no	missense	CHTF18	NM_022092.2	74	0,1,6248	TT,TC,CC		0.0,0.0242,0.0080	probably-damaging	171/976	839620	1,12497	2063	4186	6249	SO:0001583	missense	63922	exon4			AGGCGGCCCCCCA	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.511C>T	16.37:g.839620C>T	ENSP00000262315:p.Pro171Ser		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_022092	55	0.00	0	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.083095|4.083095	0.76642|0.76642	2.42E-4|2.42E-4	0.0|0.0	ENSG00000127586|ENSG00000127586	ENST00000426047|ENST00000317063;ENST00000455171;ENST00000262315	.|T;T;T	.|0.21191	.|2.02;2.39;2.28	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.057567	.|0.64402	.|D	.|0.000001	T|T	0.37073|0.37073	0.0990|0.0990	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;0.992	T|T	0.02901|0.02901	-1.1096|-1.1096	5|10	.|0.31617	.|T	.|0.26	-30.6424|-30.6424	17.4149|17.4149	0.87497|0.87497	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|171;199;171	.|B4DEY3;Q8WVB6-2;Q8WVB6	.|.;.;CTF18_HUMAN	V|S	41|368;199;171	.|ENSP00000313029:P368S;ENSP00000406252:P199S;ENSP00000262315:P171S	.|ENSP00000262315:P171S	A|P	+|+	2|1	0|0	CHTF18|CHTF18	779621|779621	0.908000|0.908000	0.30866|0.30866	0.970000|0.970000	0.41538|0.41538	0.174000|0.174000	0.22865|0.22865	2.981000|2.981000	0.49329|0.49329	2.452000|2.452000	0.82932|0.82932	0.543000|0.543000	0.68304|0.68304	GCC|CCC			0.677	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109061.3		NM_022092	
UBE2I	7329	broad.mit.edu	37	16	1370230	1370230	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:1370230C>T	ENST00000355803.4	+	5	830	c.279C>T	c.(277-279)tgC>tgT	p.C93C	UBE2I_ENST00000397515.2_Silent_p.C93C|LA16c-358B7.3_ENST00000567829.1_RNA|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000403747.2_Silent_p.C93C|UBE2I_ENST00000397514.3_Silent_p.C93C|UBE2I_ENST00000566587.1_Silent_p.C93C|UBE2I_ENST00000325437.5_Silent_p.C93C|UBE2I_ENST00000406620.1_Silent_p.C93C|UBE2I_ENST00000402301.1_Silent_p.C93C	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	93					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGACAGTGTGCCTGTCCATCT	0.552																																					p.C93C													.	UBE2I	15		0			c.C279T												80.0	72.0	75.0					16																	1370230		2199	4300	6499	SO:0001819	synonymous_variant	7329	exon5			AGTGTGCCTGTCC	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.279C>T	16.37:g.1370230C>T			Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	123	0.03	4	NM_003345	1001	0.00	1	D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	ENST00000355803.4	37	CCDS10433.1																																																																																					0.552	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250317.2		NM_003345	
CCDC154	645811	mdanderson.org	37	16	1484837	1484837	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:1484837G>T	ENST00000389176.3	-	16	1896	c.1730C>A	c.(1729-1731)gCc>gAc	p.A577D	CCDC154_ENST00000409671.1_Missense_Mutation_p.A425D	NM_001143980.1	NP_001137452.1	A6NI56	CC154_HUMAN	coiled-coil domain containing 154	577						endosome (GO:0005768)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)	5						CCACAGGGTGGCCATCTCCTG	0.706																																					p.A570D													.	.			0			c.C1709A												15.0	19.0	18.0					16																	1484837		691	1586	2277	SO:0001583	missense	645811	exon16			AGGGTGGCCATCT			16p13.3	2012-12-13			ENSG00000197599	ENSG00000197599			34454	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 29"""	C16orf29			Standard	NM_001143980		Approved	LOC645811	uc010uve.2	A6NI56	OTTHUMG00000154097	ENST00000389176.3:c.1730C>A	16.37:g.1484837G>T	ENSP00000373828:p.Ala577Asp		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_001143980	3	0.00	0	G9JV18	Missense_Mutation	SNP	ENST00000389176.3	37		.	.	.	.	.	.	.	.	.	.	G	15.10	2.733040	0.48939	.	.	ENSG00000197599	ENST00000409671;ENST00000389176	.	.	.	4.5	4.5	0.54988	.	0.148409	0.31312	N	0.007865	T	0.50326	0.1609	L	0.32530	0.975	0.26878	N	0.967597	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38779	-0.9645	9	0.21014	T	0.42	-10.9081	14.046	0.64706	0.0:0.0:1.0:0.0	.	577;425	A6NI56;B7ZBA8	CC154_HUMAN;.	D	425;577	.	ENSP00000373828:A577D	A	-	2	0	CCDC154	1424838	0.010000	0.17322	0.037000	0.18230	0.072000	0.16883	1.397000	0.34543	2.340000	0.79590	0.491000	0.48974	GCC			0.706	CCDC154-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_001143980	
MAPK8IP3	23162	mdanderson.org	37	16	1816287	1816287	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:1816287C>T	ENST00000250894.4	+	22	2850	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A892V	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	898					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCCACAGAGGCCACGGAGGTG	0.672																																					p.A898V													.	.			0			c.C2693T												33.0	45.0	41.0					16																	1816287		2109	4235	6344	SO:0001583	missense	23162	exon22			CAGAGGCCACGGA	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2693C>T	16.37:g.1816287C>T	ENSP00000250894:p.Ala898Val		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	57	0.05	3	NM_015133	11	0.00	0	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831311	0.91036	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.34275	1.37;1.37	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	L	0.52364	1.645	0.80722	D	1	P;P;D	0.69078	0.691;0.908;0.997	P;P;D	0.79784	0.465;0.727;0.993	T	0.47328	-0.9126	10	0.30854	T	0.27	-27.654	18.0927	0.89479	0.0:1.0:0.0:0.0	.	899;892;898	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	V	898;892	ENSP00000250894:A898V;ENSP00000348290:A892V	ENSP00000250894:A898V	A	+	2	0	MAPK8IP3	1756288	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	7.515000	0.81761	2.387000	0.81309	0.561000	0.74099	GCC			0.672	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250508.2		NM_001040439	
PKD1	5310	hgsc.bcm.edu	37	16	2164211	2164211	+	Missense_Mutation	SNP	G	G	A	rs148709380	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:2164211G>A	ENST00000262304.4	-	11	3021	c.2813C>T	c.(2812-2814)aCg>aTg	p.T938M	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.T938M	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	938	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.T938M(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGGCTGGGCGTGGCGCGGAG	0.701																																					p.T938M													PKD1,NS,haematopoietic_neoplasm,0,4	PKD1	0	4	2	Substitution - Missense(2)	skin(2)	c.C2813T												14.0	15.0	15.0					16																	2164211		2170	4245	6415	SO:0001583	missense	5310	exon11			CTGGGCGTGGCGC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2813C>T	16.37:g.2164211G>A	ENSP00000262304:p.Thr938Met		Somatic	36	0.0277777778	1		WXS	Illumina HiSeq	.	33	0.18	6	NM_000296	0		0	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	101	0.04624542124542125	21	0.042682926829268296	18	0.049723756906077346	27	0.0472027972027972	35	0.04617414248021108	g	6.053	0.378196	0.11466	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.70282	-0.47;-0.47	4.96	-4.69	0.03299	PKD/Chitinase domain (1);Polycystin cation channel (1);	0.997630	0.08121	N	0.994748	T	0.11665	0.0284	L	0.36672	1.1	0.09310	N	1	P;P	0.48589	0.912;0.765	B;B	0.34093	0.161;0.175	T	0.25222	-1.0138	10	0.38643	T	0.18	.	2.9045	0.05716	0.3995:0.1065:0.386:0.1081	.	938;938	P98161-3;P98161	.;PKD1_HUMAN	M	938;938;653	ENSP00000262304:T938M;ENSP00000399501:T938M	ENSP00000262304:T938M	T	-	2	0	PKD1	2104212	0.006000	0.16342	0.001000	0.08648	0.327000	0.28475	0.089000	0.15002	-0.869000	0.04052	-0.711000	0.03637	ACG			0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1			
SLX4	84464	broad.mit.edu	37	16	3656574	3656574	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:3656574G>T	ENST00000294008.3	-	3	1301	c.661C>A	c.(661-663)Ccc>Acc	p.P221T		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	221	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AAACGCTCGGGGTCTGCTCTC	0.562								Direct reversal of damage																													p.P221T													.	SLX4	173		0			c.C661A												215.0	214.0	214.0					16																	3656574		2197	4300	6497	SO:0001583	missense	84464	exon3			GCTCGGGGTCTGC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.661C>A	16.37:g.3656574G>T	ENSP00000294008:p.Pro221Thr		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	209	0.01	3	NM_032444	2	0.00	0	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281259	0.80692	.	.	ENSG00000188827	ENST00000294008	T	0.02472	4.28	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	L	0.58810	1.83	0.41058	D	0.985359	D	0.89917	1.0	D	0.91635	0.999	T	0.00188	-1.1940	10	0.87932	D	0	.	17.5813	0.87969	0.0:0.0:1.0:0.0	.	221	Q8IY92	SLX4_HUMAN	T	221	ENSP00000294008:P221T	ENSP00000294008:P221T	P	-	1	0	SLX4	3596575	1.000000	0.71417	0.970000	0.41538	0.801000	0.45260	4.576000	0.60915	2.577000	0.86979	0.655000	0.94253	CCC			0.562	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157301.3		NM_032444	
CORO7	79585	mdanderson.org	37	16	4414863	4414863	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:4414863C>T	ENST00000251166.4	-	12	1102	c.957G>A	c.(955-957)gcG>gcA	p.A319A	CORO7_ENST00000423908.2_Silent_p.A151A|CORO7_ENST00000537233.2_Silent_p.A301A|CORO7_ENST00000539968.1_Silent_p.A99A|CORO7-PAM16_ENST00000572467.1_Silent_p.A319A|CORO7_ENST00000574025.1_Silent_p.A234A	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	319					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGACGGCCAGCGCCTGCCGGG	0.657																																					p.A319A													.	.			0			c.G957A												31.0	26.0	28.0					16																	4414863		2193	4288	6481	SO:0001819	synonymous_variant	79585	exon12			GGCCAGCGCCTGC	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.957G>A	16.37:g.4414863C>T			Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_024535	19	0.00	0	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	CCDS10513.1																																																																																					0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251628.2		NM_024535	
CIITA	4261	mdanderson.org	37	16	10989249	10989249	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:10989249G>T	ENST00000324288.8	+	2	296	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.D55Y	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	55	Asp/Glu-rich (acidic).				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGACCAGATGGACCTGGCTGG	0.587			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																p.D55Y				Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	.	.			0			c.G163T												94.0	87.0	89.0					16																	10989249		2197	4300	6497	SO:0001583	missense	4261	exon2			CAGATGGACCTGG	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.163G>T	16.37:g.10989249G>T	ENSP00000316328:p.Asp55Tyr		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	59	0.05	3	NM_000246	0		0	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599938	0.28534	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.75704	-0.96;1.4	4.07	3.0	0.34707	.	0.367348	0.19221	N	0.119664	T	0.79435	0.4445	L	0.48642	1.525	0.21579	N	0.99964	D;D;D;D;D;D	0.89917	1.0;0.99;0.999;0.999;1.0;1.0	D;P;D;D;D;D	0.97110	1.0;0.737;0.962;0.962;0.986;0.999	T	0.66496	-0.5909	10	0.72032	D	0.01	.	8.9554	0.35814	0.0:0.228:0.772:0.0	.	55;55;55;55;55;55	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	Y	55	ENSP00000316328:D55Y;ENSP00000371257:D55Y	ENSP00000316328:D55Y	D	+	1	0	CIITA	10896750	0.989000	0.36119	0.871000	0.34182	0.011000	0.07611	1.791000	0.38744	2.219000	0.72066	0.561000	0.74099	GAC			0.587	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251966.2		NM_000246	
ACSM2A	123876	broad.mit.edu	37	16	20477039	20477039	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:20477039C>T	ENST00000573854.1	+	3	492	c.378C>T	c.(376-378)tgC>tgT	p.C126C	ACSM2A_ENST00000575690.1_Silent_p.C126C|ACSM2A_ENST00000417235.2_Silent_p.C47C|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.C126C|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.C126C|ACSM2A_ENST00000219054.6_Silent_p.C126C	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	126					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCTGGGCTGCATTCGAGCAG	0.567																																					p.C126C													.	ACSM2A	120		0			c.C378T												76.0	65.0	69.0					16																	20477039		2203	4297	6500	SO:0001819	synonymous_variant	123876	exon4			GGGCTGCATTCGA	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.378C>T	16.37:g.20477039C>T			Somatic	330	0.0090909091	3		WXS	Illumina HiSeq	Phase_I	290	0.01	4	NM_001010845	0		0	B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	CCDS32401.1																																																																																					0.567	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436764.1		NM_001010845	
CRYM	1428	broad.mit.edu	37	16	21272608	21272608	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:21272608G>T	ENST00000219599.3	-	9	1112	c.847C>A	c.(847-849)Cac>Aac	p.H283N	CRYM_ENST00000396023.2_Missense_Mutation_p.H283N|CRYM_ENST00000415987.2_Missense_Mutation_p.H241N|CRYM_ENST00000543948.1_Missense_Mutation_p.H283N	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	283					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		TTCTCACAGTGGGCTGGTTTC	0.507																																					p.H283N													.	CRYM	13		0			c.C847A												161.0	130.0	141.0					16																	21272608		2199	4300	6499	SO:0001583	missense	1428	exon9			CACAGTGGGCTGG		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.847C>A	16.37:g.21272608G>T	ENSP00000219599:p.His283Asn		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	138	0.03	4	NM_001888	190	0.01	1	D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930217	0.52866	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.49	1.31	0.21738	NAD(P)-binding domain (1);	0.689601	0.15312	N	0.269013	T	0.59729	0.2215	L	0.28274	0.84	0.31648	N	0.647159	B	0.12013	0.005	B	0.20384	0.029	T	0.58853	-0.7563	10	0.56958	D	0.05	-15.8893	8.4958	0.33127	0.3114:0.0:0.6886:0.0	.	283	Q14894	CRYM_HUMAN	N	283;283;283;241	ENSP00000440227:H283N;ENSP00000219599:H283N;ENSP00000379341:H283N;ENSP00000390928:H241N	ENSP00000219599:H283N	H	-	1	0	CRYM	21180109	0.013000	0.17824	0.983000	0.44433	0.998000	0.95712	0.161000	0.16481	0.295000	0.22570	0.655000	0.94253	CAC			0.507	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207398.1			
PALB2	79728	broad.mit.edu	37	16	23641321	23641321	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:23641321C>A	ENST00000261584.4	-	5	2306	c.2154G>T	c.(2152-2154)agG>agT	p.R718S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	718					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTGTGGTAGGCCTGTCATTAT	0.458			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																													p.R718S			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	.	PALB2	108		0			c.G2154T												126.0	124.0	125.0					16																	23641321		2197	4300	6497	SO:0001583	missense	79728	exon5			GGTAGGCCTGTCA		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2154G>T	16.37:g.23641321C>A	ENSP00000261584:p.Arg718Ser		Somatic	125	0.032	4		WXS	Illumina HiSeq	Phase_I	129	0.04	5	NM_024675	8	0.00	0	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564582	0.27915	.	.	ENSG00000083093	ENST00000261584	T	0.15952	2.38	5.7	-11.4	0.00090	.	1.567540	0.03403	N	0.203662	T	0.11879	0.0289	L	0.51422	1.61	0.09310	N	1	B	0.21225	0.053	B	0.18561	0.022	T	0.10941	-1.0608	10	0.36615	T	0.2	0.2841	4.7032	0.12837	0.2606:0.4566:0.0881:0.1947	.	718	Q86YC2	PALB2_HUMAN	S	718	ENSP00000261584:R718S	ENSP00000261584:R718S	R	-	3	2	PALB2	23548822	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.066000	0.00621	-2.246000	0.00704	-0.290000	0.09829	AGG			0.458	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435287.2		NM_024675	
SULT1A2	6799	broad.mit.edu	37	16	28604855	28604855	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:28604855G>T	ENST00000395630.1	-	5	757	c.407C>A	c.(406-408)gCg>gAg	p.A136E	SULT1A2_ENST00000335715.4_Missense_Mutation_p.A136E|SULT1A2_ENST00000533150.1_Intron	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	136					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GTAGGAAACCGCCACATCCTT	0.577																																					p.A136E													.	SULT1A2	27		0			c.C407A												133.0	124.0	127.0					16																	28604855		2197	4300	6497	SO:0001583	missense	6799	exon5			GAAACCGCCACAT	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.407C>A	16.37:g.28604855G>T	ENSP00000378992:p.Ala136Glu		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	162	0.02	4	NM_001054	3	0.00	0	A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	g	11.94	1.787414	0.31593	.	.	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	D;D;D	0.84944	-1.92;-1.92;-1.92	4.6	1.45	0.22620	Sulfotransferase domain (1);	0.157106	0.43260	D	0.000590	D	0.93288	0.7861	H	0.97611	4.04	0.28021	N	0.934509	D	0.67145	0.996	D	0.64776	0.929	D	0.86687	0.1920	10	0.59425	D	0.04	.	8.2271	0.31575	0.2885:0.0:0.7115:0.0	.	136	P50226	ST1A2_HUMAN	E	136	ENSP00000338742:A136E;ENSP00000378992:A136E;ENSP00000435358:A136E	ENSP00000338742:A136E	A	-	2	0	SULT1A2	28512356	0.974000	0.33945	0.920000	0.36463	0.023000	0.10783	1.700000	0.37815	0.363000	0.24346	-0.222000	0.12452	GCG			0.577	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109415.2		NM_001054	
ASPHD1	253982	mdanderson.org	37	16	29913203	29913203	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:29913203G>A	ENST00000308748.5	+	1	1163	c.911G>A	c.(910-912)cGc>cAc	p.R304H	SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|ASPHD1_ENST00000483405.1_Missense_Mutation_p.R23H|SEZ6L2_ENST00000308713.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	304					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTCGAGGGCCGCTGTGGGCCC	0.622																																					p.R304H													.	.			0			c.G911A												16.0	17.0	16.0					16																	29913203		2047	4057	6104	SO:0001583	missense	253982	exon1			AGGGCCGCTGTGG	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.911G>A	16.37:g.29913203G>A	ENSP00000311447:p.Arg304His		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_181718	42	0.02	1	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	5.233	0.228446	0.09916	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.09723	2.95;2.95	5.83	5.83	0.93111	.	0.161867	0.44097	D	0.000500	T	0.01029	0.0034	N	0.00008	-3.1	0.33270	D	0.560853	B	0.31817	0.341	B	0.17433	0.018	T	0.32079	-0.9920	10	0.02654	T	1	-11.2636	8.5523	0.33460	0.0797:0.155:0.7653:0.0	.	304	Q5U4P2	ASPH1_HUMAN	H	304	ENSP00000388036:R304H;ENSP00000311447:R304H	ENSP00000311447:R304H	R	+	2	0	ASPHD1	29820704	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	1.703000	0.37846	2.763000	0.94921	0.563000	0.77884	CGC			0.622	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255163.2		NM_181718	
PRSS53	339105	broad.mit.edu	37	16	31097418	31097418	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:31097418G>T	ENST00000280606.6	-	6	903	c.750C>A	c.(748-750)gcC>gcA	p.A250A		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	250	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CGTCCTCCTGGGCACAGCTTG	0.627																																					p.A250A													.	PRSS53	29		0			c.C750A												72.0	76.0	75.0					16																	31097418		2088	4227	6315	SO:0001819	synonymous_variant	339105	exon6			CTCCTGGGCACAG		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.750C>A	16.37:g.31097418G>T			Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	69	0.06	4	NM_001039503	4	0.00	0		Silent	SNP	ENST00000280606.6	37	CCDS42153.1																																																																																					0.627	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000108580.4		NM_001081268	
PRSS36	146547	broad.mit.edu	37	16	31154780	31154780	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:31154780G>T	ENST00000268281.4	-	8	1041	c.983C>A	c.(982-984)gCc>gAc	p.A328D	PRSS36_ENST00000418068.2_Missense_Mutation_p.A328D|PRSS36_ENST00000569305.1_Missense_Mutation_p.A328D	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	328	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGCCGCGGGGCCTTCCCGCA	0.667																																					p.A328D													.	PRSS36	50		0			c.C983A												27.0	33.0	31.0					16																	31154780		2197	4300	6497	SO:0001583	missense	146547	exon8			CGCGGGGCCTTCC	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.983C>A	16.37:g.31154780G>T	ENSP00000268281:p.Ala328Asp		Somatic	48	0.0208333333	1		WXS	Illumina HiSeq	Phase_I	68	0.07	5	NM_001258291	1	0.00	0	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841279	0.16891	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88509	-2.39;-2.39	4.11	3.12	0.35913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85318	0.5669	N	0.13327	0.33	0.09310	N	0.999997	D;D;D	0.71674	0.986;0.998;0.998	P;D;D	0.69824	0.823;0.966;0.966	T	0.73145	-0.4075	9	0.02654	T	1	.	9.4339	0.38626	0.0:0.2171:0.7829:0.0	.	328;328;328	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	D	328	ENSP00000268281:A328D;ENSP00000407160:A328D	ENSP00000268281:A328D	A	-	2	0	PRSS36	31062281	0.181000	0.23161	0.573000	0.28510	0.893000	0.52053	1.534000	0.36051	0.901000	0.36495	0.491000	0.48974	GCC			0.667	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000433542.1		NM_173502	
ABCC11	85320	broad.mit.edu	37	16	48244964	48244964	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:48244964C>T	ENST00000394747.1	-	10	1852	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	ABCC11_ENST00000356608.2_Silent_p.G501G|ABCC11_ENST00000394748.1_Silent_p.G501G|ABCC11_ENST00000353782.5_Silent_p.G501G|ABCC11_ENST00000537808.1_Silent_p.G501G	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	501					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CAGAAGCATGCCCGTTCCTCT	0.592																																					p.G501G													.	ABCC11	177		0			c.G1503A												113.0	97.0	102.0					16																	48244964		2201	4300	6501	SO:0001819	synonymous_variant	85320	exon10			AGCATGCCCGTTC	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1503G>A	16.37:g.48244964C>T			Somatic	125	0.008	1		WXS	Illumina HiSeq	Phase_I	133	0.02	3	NM_033151	0		0	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																					0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000429984.1		NM_032583	
CHD9	80205	broad.mit.edu	37	16	53243477	53243477	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:53243477G>T	ENST00000398510.3	+	2	1623	c.1536G>T	c.(1534-1536)aaG>aaT	p.K512N	CHD9_ENST00000564845.1_Missense_Mutation_p.K512N|CHD9_ENST00000447540.1_Missense_Mutation_p.K512N|CHD9_ENST00000566029.1_Missense_Mutation_p.K512N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	512					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTGAGAAGAAGCAGAGAAAAA	0.428																																					p.K512N													.	CHD9	203		0			c.G1536T												81.0	76.0	77.0					16																	53243477		1866	4096	5962	SO:0001583	missense	80205	exon3			GAAGAAGCAGAGA	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1536G>T	16.37:g.53243477G>T	ENSP00000381522:p.Lys512Asn		Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	203	0.01	3	NM_025134	0		0	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	G	12.99	2.103322	0.37145	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.55588	0.51;0.51	5.67	4.71	0.59529	.	0.000000	0.64402	D	0.000011	T	0.57315	0.2045	L	0.51422	1.61	0.40823	D	0.983529	B;P;B;D;P	0.67145	0.18;0.843;0.421;0.996;0.557	B;B;B;P;B	0.62184	0.035;0.291;0.107;0.899;0.215	T	0.53429	-0.8440	10	0.23302	T	0.38	-15.8678	7.148	0.25593	0.1403:0.1482:0.7115:0.0	.	38;512;512;512;512	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	N	512;512;38	ENSP00000396345:K512N;ENSP00000381522:K512N	ENSP00000219084:K38N	K	+	3	2	CHD9	51800978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.979000	0.29500	2.670000	0.90874	0.655000	0.94253	AAG			0.428	CHD9-020	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000422345.1		NM_025134	
CDH5	1003	broad.mit.edu	37	16	66431946	66431947	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:66431946_66431947insA	ENST00000341529.3	+	9	1570_1571	c.1422_1423insA	c.(1423-1425)aatfs	p.N475fs	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	475	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATGAGAATGACAATGCCCCGGA	0.545																																					p.D474fs													CDH5,NS,carcinoma,+1,1	CDH5	111	1	0			c.1422_1423insA																																									SO:0001589	frameshift_variant	1003	exon9			GAATGACAATGCC	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1424dupA	16.37:g.66431948_66431948dupA	ENSP00000344115:p.Asn475fs		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	210	0.00	0	NM_001795	10	0.00	0	Q4VAI5|Q4VAI6	Frame_Shift_Ins	INS	ENST00000341529.3	37	CCDS10804.1																																																																																					0.545	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268767.1		NM_001795	
ELMO3	79767	broad.mit.edu	37	16	67236569	67236569	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:67236569G>T	ENST00000360833.1	+	14	1603	c.1546G>T	c.(1546-1548)Gcc>Tcc	p.A516S	ELMO3_ENST00000393997.2_Missense_Mutation_p.A533S|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.A367S			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	480					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCGCACTCTGGCCCTGAAGCC	0.652																																					p.A533S													.	ELMO3	41		0			c.G1597T												41.0	50.0	47.0					16																	67236569		2101	4205	6306	SO:0001583	missense	79767	exon15			ACTCTGGCCCTGA		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1546G>T	16.37:g.67236569G>T	ENSP00000354077:p.Ala516Ser		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	172	0.02	3	NM_024712	29	0.00	0	B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37		.	.	.	.	.	.	.	.	.	.	G	10.84	1.462981	0.26248	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.14640	2.5;2.49	5.82	5.82	0.92795	.	0.153445	0.56097	D	0.000021	T	0.10508	0.0257	N	0.25286	0.73	0.48696	D	0.999694	P;P;P	0.38223	0.489;0.623;0.623	B;B;B	0.37508	0.077;0.252;0.252	T	0.28299	-1.0048	10	0.20519	T	0.43	-17.8836	14.4239	0.67202	0.0:0.0:0.852:0.148	.	480;516;533	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	S	516;533	ENSP00000354077:A516S;ENSP00000377566:A533S	ENSP00000354077:A516S	A	+	1	0	ELMO3	65794070	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.047000	0.41269	2.757000	0.94681	0.655000	0.94253	GCC			0.652	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000257667.2		NM_024712	
RLTPR	146206	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	16	67683478	67683478	+	Silent	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:67683478C>A	ENST00000334583.6	+	20	2203	c.1875C>A	c.(1873-1875)ggC>ggA	p.G625G	RLTPR_ENST00000545661.1_Silent_p.G589G	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	625	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGACGCGGGCGCCAAGTTGC	0.706																																					p.G625G													.	.			0			c.C1875A												18.0	21.0	20.0					16																	67683478		1961	4122	6083	SO:0001819	synonymous_variant	146206	exon20			CGCGGGCGCCAAG	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1875C>A	16.37:g.67683478C>A			Somatic	18	0	0		WXS	Illumina HiSeq	.	19	0.47	9	NM_001013838	11	0.27	3	B8X2Z3	Silent	SNP	ENST00000334583.6	37	CCDS45513.1																																																																																					0.706	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000467858.1		NM_001013838	
EDC4	23644	mdanderson.org	37	16	67913787	67913787	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:67913787G>T	ENST00000358933.5	+	16	2095	c.1856G>T	c.(1855-1857)aGc>aTc	p.S619I	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	619	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		agcagcggtagcagcagcagc	0.612																																					p.S619I													.	.			0			c.G1856T												38.0	35.0	36.0					16																	67913787		2187	4253	6440	SO:0001583	missense	23644	exon16			GCGGTAGCAGCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1856G>T	16.37:g.67913787G>T	ENSP00000351811:p.Ser619Ile		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	59	0.08	5	NM_014329	38	0.00	0	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623519	0.28889	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.12	3.15	0.36227	.	0.339171	0.32533	N	0.005969	T	0.17109	0.0411	N	0.14661	0.345	0.23361	N	0.997839	B;P	0.35575	0.012;0.51	B;B	0.26202	0.012;0.067	T	0.11179	-1.0598	9	0.48119	T	0.1	0.017	7.6658	0.28430	0.1906:0.0:0.8094:0.0	.	551;619	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	I	619;551	.	ENSP00000351811:S619I	S	+	2	0	EDC4	66471288	.	.	0.959000	0.39883	0.936000	0.57629	.	.	0.841000	0.35020	0.655000	0.94253	AGC			0.612	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268874.2		NM_014329	
CLEC18C	283971	broad.mit.edu	37	16	70211324	70211324	+	Missense_Mutation	SNP	C	C	T	rs549038893		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:70211324C>T	ENST00000569347.2	+	3	651	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	CLEC18C_ENST00000536907.2_Missense_Mutation_p.R133W|CLEC18C_ENST00000314151.8_Missense_Mutation_p.R133W|CLEC18C_ENST00000541793.2_Missense_Mutation_p.R133W|CLEC18C_ENST00000561612.1_Intron	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	133	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						AGAGGGGCAGCGGTACAGCCA	0.647																																					p.R133W													.	CLEC18C	15		0			c.C397T												51.0	53.0	52.0					16																	70211324		2174	4235	6409	SO:0001583	missense	283971	exon3			GGGCAGCGGTACA	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.397C>T	16.37:g.70211324C>T	ENSP00000455920:p.Arg133Trp		Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	324	0.01	4	NM_173619	2	0.00	0	Q8IUW8	Missense_Mutation	SNP	ENST00000569347.2	37	CCDS32473.1	.	.	.	.	.	.	.	.	.	.	c	5.747	0.322331	0.10900	.	.	ENSG00000157335	ENST00000541793;ENST00000314151;ENST00000433156;ENST00000539438;ENST00000536907	T;T;T	0.09538	2.97;2.97;2.97	4.32	-0.229	0.13094	CAP domain (3);	1.733530	0.02305	N	0.071605	T	0.05364	0.0142	N	0.02721	-0.515	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34650	-0.9820	10	0.35671	T	0.21	.	7.2595	0.26195	0.0:0.5331:0.0:0.4669	.	133	Q8NCF0	CL18C_HUMAN	W	133;133;133;129;133	ENSP00000444875:R133W;ENSP00000326538:R133W;ENSP00000444726:R133W	ENSP00000326538:R133W	R	+	1	2	CLEC18C	68768825	0.000000	0.05858	0.881000	0.34555	0.190000	0.23558	-1.042000	0.03539	0.031000	0.15407	0.298000	0.19748	CGG			0.647	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000434588.2		NM_173619	
PKD1L3	342372	broad.mit.edu	37	16	72033512	72033513	+	RNA	INS	-	-	T	rs58914191|rs558678390|rs377409889		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:72033512_72033513insT	ENST00000534738.1	-	0	295							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TTAAGATTTTCTTTTTTTTTTC	0.347																																					.													.	PKD1L3	67		0			.																																											342372	.			GATTTTCTTTTTT	AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72033522_72033522dupT			Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	57	0.16	9	.	0		0		RNA	INS	ENST00000534738.1	37																																																																																						0.347	PKD1L3-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000387876.1		NM_181536	
HPR	3250	broad.mit.edu	37	16	72110394	72110394	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:72110394C>T	ENST00000540303.2	+	5	493	c.461C>T	c.(460-462)gCa>gTa	p.A154V	HPR_ENST00000356967.5_Missense_Mutation_p.A154V|HPR_ENST00000228226.8_Missense_Mutation_p.A191V|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	154	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.A154E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCAGAAAATGCAACAGCGAAA	0.463																																					p.A154V													HPR_ENST00000228226,NS,carcinoma,0,2	HPR	43	2	1	Substitution - Missense(1)	lung(1)	c.C461T												82.0	54.0	63.0					16																	72110394		1929	4106	6035	SO:0001583	missense	3250	exon5			AAAATGCAACAGC	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.461C>T	16.37:g.72110394C>T	ENSP00000441828:p.Ala154Val		Somatic	383	0.0026109661	1		WXS	Illumina HiSeq	Phase_I	364	0.01	5	NM_020995	0		0	Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	3.983	-0.006028	0.07773	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.87179	-2.22;-2.22;-2.22	2.46	1.44	0.22558	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.287034	0.33382	N	0.004979	D	0.82563	0.5064	L	0.31926	0.97	0.09310	N	1	P	0.38473	0.633	P	0.47299	0.543	T	0.72253	-0.4347	10	0.36615	T	0.2	.	7.921	0.29846	0.4407:0.5593:0.0:0.0	.	154	P00739	HPTR_HUMAN	V	154;154;191	ENSP00000349451:A154V;ENSP00000441828:A154V;ENSP00000228226:A191V	ENSP00000228226:A191V	A	+	2	0	HP	70667895	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	1.232000	0.32636	0.340000	0.23745	0.194000	0.17425	GCA			0.463	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421696.1		NM_020995	
CHST5	23563	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	16	75563911	75563911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:75563911G>T	ENST00000336257.3	-	3	1766	c.372C>A	c.(370-372)tgC>tgA	p.C124*	CHST5_ENST00000541075.1_Nonsense_Mutation_p.C130*|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	124					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGTCCATGTCGCACAAAAAGA	0.632																																					p.C124X													.	.			0			c.C372A												72.0	64.0	67.0					16																	75563911		2198	4300	6498	SO:0001587	stop_gained	23563	exon3			CATGTCGCACAAA	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.372C>A	16.37:g.75563911G>T	ENSP00000338783:p.Cys124*		Somatic	109	0	0		WXS	Illumina HiSeq	.	116	0.08	9	NM_024533	0		0	B2RV23|Q7LCN3|Q9UBY3	Nonsense_Mutation	SNP	ENST00000336257.3	37	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.649885	0.29336	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	.	.	.	2.73	1.74	0.24563	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8585	0.13571	0.419:0.0:0.581:0.0	.	.	.	.	X	124;130	.	ENSP00000338783:C124X	C	-	3	2	CHST5	74121412	0.780000	0.28664	0.999000	0.59377	0.423000	0.31445	-0.063000	0.11655	0.457000	0.26962	0.313000	0.20887	TGC			0.632	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269025.2		NM_012126	
PKD1L2	114780	broad.mit.edu	37	16	81204552	81204552	+	RNA	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:81204552G>T	ENST00000527937.1	-	0	4165				PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTCACCTGGGCCGAGGGTGT	0.607																																					p.A969D													.	PKD1L2	361		0			c.C2906A												60.0	61.0	61.0					16																	81204552		2124	4238	6362			114780	exon17			ACCTGGGCCGAGG	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81204552G>T			Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	100	0.03	3	NM_001076780	0		0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		.	.	.	.	.	.	.	.	.	.	G	15.19	2.761310	0.49468	.	.	ENSG00000166473	ENST00000531391;ENST00000337114	T;T	0.37584	1.19;3.84	4.91	4.91	0.64330	Egg jelly receptor, REJ-like (1);	0.199114	0.42548	D	0.000689	T	0.60353	0.2262	.	.	.	0.28490	N	0.914549	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.59674	-0.7410	9	0.87932	D	0	-8.5102	15.0165	0.71588	0.0:0.0:1.0:0.0	.	969;969	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	D	284;969	ENSP00000436309:A284D;ENSP00000337397:A969D	ENSP00000337397:A969D	A	-	2	0	PKD1L2	79762053	1.000000	0.71417	0.980000	0.43619	0.045000	0.14185	4.528000	0.60580	2.270000	0.75569	0.549000	0.68633	GCC			0.607	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene		OTTHUMT00000387978.1			
FAM92B	339145	mdanderson.org	37	16	85139014	85139014	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:85139014G>T	ENST00000539556.1	-	6	611	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	152										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGTCCACAGCGGCCCTCTGCA	0.612																																					p.A152A													.	.			0			c.C456A												61.0	53.0	56.0					16																	85139014		2198	4300	6498	SO:0001819	synonymous_variant	339145	exon5			CACAGCGGCCCTC		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.456C>A	16.37:g.85139014G>T			Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_198491	0		0		Silent	SNP	ENST00000539556.1	37	CCDS32500.1																																																																																					0.612	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_198491	
INPP5K	51763	broad.mit.edu	37	17	1410277	1410277	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:1410277G>T	ENST00000421807.2	-	7	1161	c.773C>A	c.(772-774)aCc>aAc	p.T258N	INPP5K_ENST00000542125.1_Missense_Mutation_p.T162N|INPP5K_ENST00000397335.3_Missense_Mutation_p.T166N|INPP5K_ENST00000406424.4_Missense_Mutation_p.T182N|INPP5K_ENST00000320345.6_Missense_Mutation_p.T182N	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	258	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCTCACCTGGTGTCATAGTC	0.567																																					p.T258N													.	INPP5K	30		0			c.C773A												92.0	82.0	86.0					17																	1410277		2203	4300	6503	SO:0001583	missense	51763	exon7			CACCTGGTGTCAT		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.773C>A	17.37:g.1410277G>T	ENSP00000413937:p.Thr258Asn		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	196	0.02	4	NM_016532	65	0.00	0	B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	ENST00000421807.2	37	CCDS11004.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897170	0.91962	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000397335;ENST00000542125;ENST00000449479	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.68	5.68	0.88126	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.094471	0.64402	D	0.000001	D	0.93207	0.7836	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.76494	0.999;0.958	D;D	0.69479	0.964;0.936	D	0.94266	0.7506	10	0.72032	D	0.01	.	18.7706	0.91890	0.0:0.0:1.0:0.0	.	162;258	F5GXZ0;Q9BT40	.;INP5K_HUMAN	N	182;182;258;182;166;162;166	ENSP00000385177:T182N;ENSP00000318476:T182N;ENSP00000380496:T166N;ENSP00000440147:T162N;ENSP00000413259:T166N	ENSP00000318476:T182N	T	-	2	0	INPP5K	1357027	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.468000	0.80943	2.670000	0.90874	0.655000	0.94253	ACC			0.567	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319381.4			
SCARF1	8578	broad.mit.edu	37	17	1549758	1549758	+	5'Flank	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:1549758G>T	ENST00000263071.4	-	0	0				SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.A395D|SCARF1_ENST00000348987.3_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCGGCTGAGGCCCCCAGACA	0.642																																					p.A395D													.	RILP	24		0			c.C1184A												75.0	74.0	75.0					17																	1549758		2203	4300	6503	SO:0001631	upstream_gene_variant	83547	exon8			GCTGAGGCCCCCA	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1549758G>T	Exception_encountered		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	169	0.03	5	NM_031430	41	0.00	0	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607829	0.46527	.	.	ENSG00000167705	ENST00000301336	T	0.31769	1.48	4.82	3.83	0.44106	.	0.833933	0.09556	U	0.786297	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.32289	0.143	T	0.23619	-1.0183	10	0.62326	D	0.03	-30.488	7.2151	0.25955	0.1384:0.0:0.8616:0.0	.	395	Q96NA2	RILP_HUMAN	D	395	ENSP00000301336:A395D	ENSP00000301336:A395D	A	-	2	0	RILP	1496508	0.027000	0.19231	0.226000	0.23910	0.158000	0.22134	0.382000	0.20635	1.063000	0.40649	0.561000	0.74099	GCC			0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207081.4		NM_003693	
OR1D4	653166	broad.mit.edu	37	17	3144185	3144185	+	RNA	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:3144185C>A	ENST00000531680.1	+	0	216					NR_033795.1		P47884	OR1D4_HUMAN	olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										CTGACCTCTTCTTTGTCACCA	0.522																																					.													.	.			0			.																																											653166	.			CCTCTTCTTTGTC	U04681		17p13.3	2014-03-20	2010-07-19		ENSG00000255095	ENSG00000255095		"""GPCR / Class A : Olfactory receptors"""	8185	protein-coding gene	gene with protein product			"""olfactory receptor, family 1, subfamily D, member 4"""			8004088, 10673334	Standard	NR_033795		Approved	OR17-30	uc002fvf.3	P47884	OTTHUMG00000166844		17.37:g.3144185C>A			Somatic	356	0	0		WXS	Illumina HiSeq	Phase_I	472	0.01	4	.	0		0	Q96RA5|Q9UM75	RNA	SNP	ENST00000531680.1	37																																																																																						0.522	OR1D4-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000391569.1		NM_003552	
ZZEF1	23140	broad.mit.edu	37	17	3975931	3975931	+	Missense_Mutation	SNP	G	G	A	rs370550753		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:3975931G>A	ENST00000381638.2	-	25	3929	c.3805C>T	c.(3805-3807)Ccc>Tcc	p.P1269S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1269							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGGTGAGTGGGCCAGCTTGCT	0.428																																					p.P1269S													.	ZZEF1	195		0			c.C3805T												102.0	96.0	98.0					17																	3975931		2203	4300	6503	SO:0001583	missense	23140	exon25			GAGTGGGCCAGCT	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3805C>T	17.37:g.3975931G>A	ENSP00000371051:p.Pro1269Ser		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	214	0.02	4	NM_015113	1	0.00	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302820	0.40795	.	.	ENSG00000074755	ENST00000381638	T	0.19532	2.14	5.54	3.55	0.40652	.	0.337912	0.31071	N	0.008310	T	0.14960	0.0361	L	0.43152	1.355	0.30505	N	0.770016	B	0.20368	0.044	B	0.19148	0.024	T	0.21861	-1.0233	10	0.10902	T	0.67	-13.1459	8.3153	0.32097	0.0735:0.0:0.6363:0.2902	.	1269	O43149	ZZEF1_HUMAN	S	1269	ENSP00000371051:P1269S	ENSP00000371051:P1269S	P	-	1	0	ZZEF1	3922680	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.200000	0.51051	0.898000	0.36418	0.650000	0.86243	CCC			0.428	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207480.1		NM_015113	
ARRB2	409	broad.mit.edu	37	17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:4619841A>C	ENST00000269260.2	+	5	528	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	99					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682																																					p.T99P													.	ARRB2	30		0			c.A295C																																									SO:0001583	missense	409	exon5			CCCCCCACCCGCC		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.295A>C	17.37:g.4619841A>C	ENSP00000269260:p.Thr99Pro		Somatic	46	0.3043478261	14		WXS	Illumina HiSeq	Phase_I	66	0.32	21	NM_001257329	36	0.06	2	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340849	0.81911	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.23147	1.92;1.92	4.84	4.84	0.62591	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.051921	0.85682	D	0.000000	T	0.60612	0.2282	H	0.94222	3.51	0.80722	D	1	D;D;D;B;D	0.76494	0.999;0.974;0.99;0.26;0.963	D;P;D;B;P	0.77004	0.989;0.816;0.912;0.089;0.884	T	0.71951	-0.4437	10	0.87932	D	0	-9.8224	12.4157	0.55492	1.0:0.0:0.0:0.0	.	99;84;99;84;99	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	P	99;99;84;100	ENSP00000269260:T99P;ENSP00000341895:T84P	ENSP00000269260:T99P	T	+	1	0	ARRB2	4566590	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.916000	0.75776	2.050000	0.60909	0.460000	0.39030	ACC			0.682	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439552.1		NM_004313	
ZMYND15	84225	broad.mit.edu	37	17	4645281	4645281	+	Missense_Mutation	SNP	G	G	A	rs143837890		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:4645281G>A	ENST00000433935.1	+	4	956	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	ZMYND15_ENST00000573751.2_Missense_Mutation_p.R300Q|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.R300Q|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R300Q	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	300					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGGGGTCCCCGGCCAGGCTTC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17366	0.0		0.0	False		,,,				2504	0.0				p.R300Q													.	ZMYND15	87		0			c.G899A							G	GLN/ARG,GLN/ARG	16,4390	22.3+/-47.3	0,16,2187	78.0	84.0	82.0		899,899	2.1	1.0	17	dbSNP_134	82	0,8600		0,0,4300	yes	missense,missense	ZMYND15	NM_001136046.1,NM_032265.1	43,43	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	benign,benign	300/743,300/704	4645281	16,12990	2203	4300	6503	SO:0001583	missense	84225	exon4			GTCCCCGGCCAGG	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.899G>A	17.37:g.4645281G>A	ENSP00000391742:p.Arg300Gln		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	328	0.01	4	NM_001136046	0		0	B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	CCDS45584.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.97	2.395032	0.42512	0.003631	0.0	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48522	0.83;0.81	5.15	2.14	0.27477	.	0.319154	0.26300	N	0.025173	T	0.26340	0.0643	N	0.17082	0.46	0.27909	N	0.938698	B;B	0.23591	0.088;0.07	B;B	0.12156	0.007;0.005	T	0.11641	-1.0579	10	0.33141	T	0.24	-9.9715	7.058	0.25109	0.3474:0.0:0.6526:0.0	.	300;300	B4DXY5;Q9H091	.;ZMY15_HUMAN	Q	300	ENSP00000391742:R300Q;ENSP00000269289:R300Q	ENSP00000269289:R300Q	R	+	2	0	ZMYND15	4592030	0.955000	0.32602	0.997000	0.53966	0.970000	0.65996	0.885000	0.28227	0.357000	0.24183	0.563000	0.77884	CGG			0.572	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439580.1		NM_032265	
ENO3	2027	broad.mit.edu	37	17	4858517	4858517	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:4858517G>T	ENST00000323997.6	+	7	724	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S	ENO3_ENST00000519584.1_Missense_Mutation_p.A155S|ENO3_ENST00000518175.1_Missense_Mutation_p.A198S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	198					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGTCATCAAGGCCAAGTATGG	0.582																																					p.A198S													.	ENO3	36		0			c.G592T												93.0	82.0	86.0					17																	4858517		2203	4300	6503	SO:0001583	missense	2027	exon7			ATCAAGGCCAAGT	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.592G>T	17.37:g.4858517G>T	ENSP00000324105:p.Ala198Ser		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	232	0.02	5	NM_001976	46	0.00	0	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280384	0.40294	.	.	ENSG00000108515	ENST00000519602;ENST00000323997;ENST00000519584;ENST00000518175	T;D;D;D	0.82167	0.63;-1.58;-1.58;-1.58	5.7	2.39	0.29439	Enolase, C-terminal (1);	0.106792	0.64402	N	0.000006	T	0.74435	0.3716	L	0.40543	1.245	0.53688	D	0.999978	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.12837	0.008;0.005;0.005;0.008	T	0.66031	-0.6024	9	.	.	.	-20.0863	13.0427	0.58908	0.0:0.0:0.582:0.418	.	198;155;105;198	P13929;P13929-3;D3DTL4;D3DTL2	ENOB_HUMAN;.;.;.	S	198;198;155;198	ENSP00000430055:A198S;ENSP00000324105:A198S;ENSP00000430636:A155S;ENSP00000431087:A198S	.	A	+	1	0	ENO3	4799263	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.844000	0.62846	0.717000	0.32145	-0.302000	0.09304	GCC			0.582	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216851.2			
NLRP1	22861	broad.mit.edu	37	17	5461937	5461937	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:5461937C>T	ENST00000572272.1	-	4	2078	c.2079G>A	c.(2077-2079)cgG>cgA	p.R693R	NLRP1_ENST00000577119.1_Silent_p.R693R|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.R693R|NLRP1_ENST00000345221.3_Silent_p.R693R|NLRP1_ENST00000262467.5_Silent_p.R693R|NLRP1_ENST00000269280.4_Silent_p.R693R			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	693					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTGAGACAGCCGGCAGTGAA	0.562																																					p.R693R													.	NLRP1	358		0			c.G2079A												87.0	81.0	83.0					17																	5461937		2203	4300	6503	SO:0001819	synonymous_variant	22861	exon4			AGACAGCCGGCAG	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2079G>A	17.37:g.5461937C>T			Somatic	132	0.0075757576	1		WXS	Illumina HiSeq	Phase_I	156	0.02	3	NM_033007	0		0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																					0.562	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439517.1		NM_033004	
TEKT1	83659	broad.mit.edu	37	17	6733661	6733662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:6733661_6733662insG	ENST00000338694.2	-	2	163_164	c.34_35insC	c.(34-36)ctgfs	p.L12fs	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	12						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTCTGAGGGCAGGAACTTGGGT	0.455																																					p.L12fs													.	TEKT1	49		0			c.35_36insC																																									SO:0001589	frameshift_variant	83659	exon2			GAGGGCAGGAACT		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.35dupC	17.37:g.6733663_6733663dupG	ENSP00000341346:p.Leu12fs		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	448	0.02	8	NM_053285	0		0	D3DTM7	Frame_Shift_Ins	INS	ENST00000338694.2	37	CCDS11083.1																																																																																					0.455	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219867.2		NM_053285	
DLG4	1742	broad.mit.edu	37	17	7097791	7097791	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:7097791G>T	ENST00000399506.2	-	12	1516	c.1325C>A	c.(1324-1326)aCc>aAc	p.T442N	DLG4_ENST00000302955.6_Missense_Mutation_p.T439N|DLG4_ENST00000399510.2_Missense_Mutation_p.T485N			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	442	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCAGTCCTTGGTCTTGTCGTA	0.612																																					p.T485N													.	DLG4	110		0			c.C1454A												33.0	38.0	36.0					17																	7097791		2081	4217	6298	SO:0001583	missense	1742	exon14			TCCTTGGTCTTGT	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1325C>A	17.37:g.7097791G>T	ENSP00000382425:p.Thr442Asn		Somatic	130	0.0153846154	2		WXS	Illumina HiSeq	Phase_I	203	0.02	5	NM_001365	11	0.00	0	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	G	18.36	3.607244	0.66558	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.50001	0.76;0.76;0.76	5.3	4.32	0.51571	Src homology-3 domain (4);	.	.	.	.	T	0.37046	0.0989	N	0.16602	0.42	0.58432	D	0.999997	B;B;P;B	0.37548	0.016;0.037;0.599;0.313	B;B;B;B	0.43701	0.043;0.043;0.428;0.352	T	0.11767	-1.0574	9	0.19590	T	0.45	.	13.7202	0.62723	0.0:0.1553:0.8447:0.0	.	482;442;439;485	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	N	442;439;485;485;382;485	ENSP00000382425:T442N;ENSP00000307471:T439N;ENSP00000382428:T485N	ENSP00000293813:T485N	T	-	2	0	DLG4	7038515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	1.455000	0.47813	0.655000	0.94253	ACC			0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000259419.2		NM_001365	
ACADVL	37	broad.mit.edu	37	17	7126059	7126059	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:7126059C>T	ENST00000356839.5	+	10	1131	c.952C>T	c.(952-954)Cca>Tca	p.P318S	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.P296S|ACADVL_ENST00000543245.2_Missense_Mutation_p.P341S	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	318	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AGTACGGGTGCCATCGGAGAA	0.567																																					p.P341S													.	ACADVL	43		0			c.C1021T												138.0	124.0	129.0					17																	7126059		2203	4300	6503	SO:0001583	missense	37	exon11			CGGGTGCCATCGG	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.952C>T	17.37:g.7126059C>T	ENSP00000349297:p.Pro318Ser		Somatic	119	0.0084033613	1		WXS	Illumina HiSeq	Phase_I	169	0.02	3	NM_001270447	364	0.00	0	B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398670	0.83120	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.99830	-7.01;-7.01	5.09	5.09	0.68999	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.058346	0.64402	D	0.000002	D	0.99825	0.9922	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.997;0.997;0.967	D	0.96782	0.9576	10	0.87932	D	0	.	16.0318	0.80582	0.0:1.0:0.0:0.0	.	341;296;318	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	S	341;364;296;318;364	ENSP00000438689:P341S;ENSP00000344152:P296S	ENSP00000325395:P318S	P	+	1	0	ACADVL	7066783	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	6.107000	0.71517	2.655000	0.90218	0.655000	0.94253	CCA			0.567	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000220001.5		NM_000018	
EIF5A	1984	broad.mit.edu	37	17	7214926	7214926	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:7214926G>T	ENST00000336458.8	+	5	833	c.432G>T	c.(430-432)gaG>gaT	p.E144D	GPS2_ENST00000391950.3_Intron|EIF5A_ENST00000576930.1_Missense_Mutation_p.E144D|EIF5A_ENST00000573542.1_Missense_Mutation_p.E144D|EIF5A_ENST00000572815.1_Missense_Mutation_p.E176D|EIF5A_ENST00000416016.2_Missense_Mutation_p.E144D|EIF5A_ENST00000336452.7_Missense_Mutation_p.E174D|EIF5A_ENST00000571955.1_Missense_Mutation_p.E144D|EIF5A_ENST00000419711.2_Missense_Mutation_p.E144D	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	144					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TGACAGAGGAGGCAGCTGTTG	0.512																																					p.E174D													.	EIF5A	28		0			c.G522T												151.0	124.0	133.0					17																	7214926		2203	4300	6503	SO:0001583	missense	1984	exon5			AGAGGAGGCAGCT		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.432G>T	17.37:g.7214926G>T	ENSP00000336776:p.Glu144Asp		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	223	0.01	3	NM_001143760	5067	0.00	0	A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027910	0.75390	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.59083	0.29;0.41;0.41;0.41	4.44	2.45	0.29901	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000001	T	0.73999	0.3659	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.74041	-0.3792	10	0.66056	D	0.02	-9.8502	5.0767	0.14634	0.3782:0.0:0.6218:0.0	.	144;174	P63241;P63241-2	IF5A1_HUMAN;.	D	174;144;144;144	ENSP00000336702:E174D;ENSP00000336776:E144D;ENSP00000390677:E144D;ENSP00000396073:E144D	ENSP00000336702:E174D	E	+	3	2	EIF5A	7155650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.159000	0.50731	1.232000	0.43678	-0.142000	0.14014	GAG			0.512	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000220047.3		NM_001970	
SHBG	6462	broad.mit.edu	37	17	7533538	7533538	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:7533538G>T	ENST00000380450.4	+	1	79	c.48G>T	c.(46-48)ctG>ctT	p.L16L	SHBG_ENST00000575903.1_Silent_p.L16L|SHBG_ENST00000340624.5_Intron|SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Silent_p.L16L|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000416273.3_Silent_p.L16L|SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000380466.2_5'Flank	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	16					primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	tgctgttgctgctgttgctac	0.612																																					p.L16L													.	SHBG	21		1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.G48T												70.0	57.0	62.0					17																	7533538		2203	4300	6503	SO:0001819	synonymous_variant	6462	exon1			GTTGCTGCTGTTG		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.48G>T	17.37:g.7533538G>T			Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	105	0.04	4	NM_001040	0		0	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	CCDS11117.1																																																																																					0.612	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000226957.2		NM_001040	
KRBA2	124751	broad.mit.edu	37	17	8272513	8272513	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:8272513G>T	ENST00000331336.2	-	2	1423	c.1418C>A	c.(1417-1419)cCc>cAc	p.P473H	KRBA2_ENST00000396267.1_Missense_Mutation_p.P391H|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	473					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TTCAGGAGTGGGATCCATGTC	0.512																																					p.P473H													.	KRBA2	34		0			c.C1418A												143.0	127.0	133.0					17																	8272513		2203	4300	6503	SO:0001583	missense	124751	exon2			GGAGTGGGATCCA	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1418C>A	17.37:g.8272513G>T	ENSP00000328017:p.Pro473His		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	256	0.02	6	NM_213597	6	0.00	0	Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.760986	0.31137	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.27402	1.73;1.67	2.56	1.58	0.23477	.	.	.	.	.	T	0.34395	0.0896	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.09818	-1.0657	9	0.72032	D	0.01	.	5.5102	0.16876	0.1565:0.0:0.8435:0.0	.	473	Q6ZNG9	KRBA2_HUMAN	H	391;473	ENSP00000379565:P391H;ENSP00000328017:P473H	ENSP00000328017:P473H	P	-	2	0	KRBA2	8213238	0.598000	0.26882	0.002000	0.10522	0.017000	0.09413	2.959000	0.49153	0.654000	0.30846	0.650000	0.86243	CCC			0.512	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256338.1		NM_213597	
GAS7	8522	mdanderson.org	37	17	10101685	10101685	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:10101685G>T	ENST00000432992.2	-	1	183	c.23C>A	c.(22-24)aCc>aAc	p.T8N	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	8	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GGGGTACAGGGTCCGGCAGCG	0.756			T	MLL	AML*																																p.T8N				Dom	yes		17	17p	8522	growth arrest-specific 7		L	.	.			0			c.C23A												8.0	10.0	9.0					17																	10101685		2132	4169	6301	SO:0001583	missense	8522	exon1			TACAGGGTCCGGC	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.23C>A	17.37:g.10101685G>T	ENSP00000407552:p.Thr8Asn		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	17	0.12	2	NM_201433	11	0.00	0	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858263	0.51376	.	.	ENSG00000007237	ENST00000323816	.	.	.	3.37	3.37	0.38596	Src homology-3 domain (4);	0.122142	0.31989	U	0.006757	T	0.53158	0.1779	L	0.57536	1.79	0.80722	D	1	P	0.37636	0.603	B	0.38985	0.287	T	0.54549	-0.8277	8	.	.	.	-16.1099	12.2492	0.54589	0.0:0.0:1.0:0.0	.	8	O60861	GAS7_HUMAN	N	8	.	.	T	-	2	0	GAS7	10042410	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.863000	0.48396	1.731000	0.51592	0.455000	0.32223	ACC			0.756	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439883.1		NM_003644, NM_201432, NM_201433	
MYH3	4621	broad.mit.edu	37	17	10545596	10545597	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:10545596_10545597insCC	ENST00000583535.1	-	17	2006_2007	c.1919_1920insGG	c.(1918-1920)aagfs	p.K640fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.K640fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	640	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAGAACCCTTCTTCTTGGCAAC	0.381																																					p.K640fs													.	MYH3	227		0			c.1920_1921insGG																																									SO:0001589	frameshift_variant	4621	exon17			ACCCTTCTTCTTG		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1919_1920insGG	17.37:g.10545596_10545597insCC	ENSP00000464317:p.Lys640fs		Somatic	571	0	0		WXS	Illumina HiSeq	Phase_I	848	0.00	4	NM_002470	2	0.00	0	Q15492	Frame_Shift_Ins	INS	ENST00000583535.1	37	CCDS11157.1																																																																																					0.381	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252734.2		NM_002470	
DNAH9	1770	broad.mit.edu	37	17	11648286	11648286	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:11648286G>A	ENST00000262442.4	+	31	6352	c.6284G>A	c.(6283-6285)gGg>gAg	p.G2095E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2095E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2095					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCTGATCGGGGACCTCTTT	0.582																																					p.G2095E													.	DNAH9	695		0			c.G6284A												73.0	74.0	74.0					17																	11648286		2203	4300	6503	SO:0001583	missense	1770	exon31			TGATCGGGGACCT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6284G>A	17.37:g.11648286G>A	ENSP00000262442:p.Gly2095Glu		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	236	0.01	3	NM_001372	0		0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530877	0.85706	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.37411	1.2;1.2	5.46	4.5	0.54988	.	0.066039	0.64402	D	0.000012	T	0.52256	0.1723	M	0.78344	2.41	0.80722	D	1	P	0.51057	0.941	P	0.52598	0.703	T	0.58601	-0.7608	10	0.56958	D	0.05	.	14.2358	0.65925	0.0717:0.0:0.9283:0.0	.	2095	Q9NYC9	DYH9_HUMAN	E	2095;2095;677	ENSP00000262442:G2095E;ENSP00000414874:G2095E	ENSP00000262442:G2095E	G	+	2	0	DNAH9	11589011	1.000000	0.71417	0.817000	0.32601	0.835000	0.47333	9.813000	0.99286	1.314000	0.45095	0.650000	0.86243	GGG			0.582	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252756.2		NM_001372	
COX10	1352	broad.mit.edu	37	17	14095488	14095488	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:14095488C>T	ENST00000261643.3	+	6	955	c.878C>T	c.(877-879)gCc>gTc	p.A293V	COX10_ENST00000536205.1_Missense_Mutation_p.A101V|COX10_ENST00000537334.1_Missense_Mutation_p.A76V	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	293					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GTGGTTGGGGCCATCCCGCCT	0.582																																					p.A293V													.	COX10	36		0			c.C878T												43.0	46.0	45.0					17																	14095488		2203	4296	6499	SO:0001583	missense	1352	exon6			TTGGGGCCATCCC	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.878C>T	17.37:g.14095488C>T	ENSP00000261643:p.Ala293Val		Somatic	262	0	0		WXS	Illumina HiSeq	Phase_I	318	0.01	4	NM_001303	21	0.00	0	B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739275	0.89573	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.93189	-3.18;-3.18;-3.18	4.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	H	0.97516	4.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.98600	1.0658	10	0.87932	D	0	-0.5408	13.6747	0.62447	0.0:0.8451:0.1549:0.0	.	101;293	B4DJ50;Q12887	.;COX10_HUMAN	V	293;101;76	ENSP00000261643:A293V;ENSP00000439494:A101V;ENSP00000443354:A76V	ENSP00000261643:A293V	A	+	2	0	COX10	14036213	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.109000	0.77062	1.128000	0.42052	-0.121000	0.15023	GCC			0.582	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130003.1		NM_001303	
TTC19	54902	broad.mit.edu	37	17	15930740	15930740	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:15930740G>T	ENST00000261647.5	+	10	1516	c.1047G>T	c.(1045-1047)aaG>aaT	p.K349N	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Missense_Mutation_p.K470N	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	349					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGCAAGCAAAGCTGAAAAAAG	0.383																																					p.K349N													.	TTC19	10		0			c.G1047T												118.0	107.0	111.0					17																	15930740		2203	4300	6503	SO:0001583	missense	54902	exon10			AGCAAAGCTGAAA	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.1047G>T	17.37:g.15930740G>T	ENSP00000261647:p.Lys349Asn		Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	241	0.03	7	NM_017775	177	0.00	0	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	ENST00000261647.5	37	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997718	0.54147	.	.	ENSG00000011295	ENST00000261647;ENST00000555605	D	0.84223	-1.82	6.17	5.2	0.72013	.	0.381500	0.32287	N	0.006307	T	0.73776	0.3630	N	0.14661	0.345	0.36781	D	0.884321	B	0.25007	0.116	B	0.18263	0.021	T	0.75499	-0.3296	10	0.62326	D	0.03	-3.2648	12.5579	0.56265	0.1374:0.0:0.8626:0.0	.	112	B3KT23	.	N	349;470	ENSP00000261647:K349N	ENSP00000261647:K470N	K	+	3	2	TTC19	15871465	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.360000	0.34125	1.621000	0.50320	0.655000	0.94253	AAG			0.383	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000131725.6		NM_017775	
UBB	7314	broad.mit.edu	37	17	16285329	16285330	+	Frame_Shift_Ins	INS	-	-	C	rs16962978	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:16285329_16285330insC	ENST00000395837.1	+	2	289_290	c.108_109insC	c.(109-111)cccfs	p.P37fs	UBB_ENST00000302182.3_Frame_Shift_Ins_p.P37fs|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Frame_Shift_Ins_p.P37fs|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Frame_Shift_Ins_p.P37fs	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	37	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGAAGGCATTCCCCCCGACCA	0.54																																					p.I36fs	Melanoma(163;1126 3406 34901)												.	UBB	30		0			c.108_109insC																																									SO:0001589	frameshift_variant	7314	exon2			AGGCATTCCCCCC		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.114dupC	17.37:g.16285335_16285335dupC	ENSP00000379178:p.Pro37fs		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	208	0.03	6	NM_018955	5465	0.00	0	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Ins	INS	ENST00000395837.1	37	CCDS11177.1																																																																																					0.540	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000130459.1		NM_018955	
FLII	2314	broad.mit.edu	37	17	18155412	18155412	+	Missense_Mutation	SNP	C	C	T	rs377757631		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:18155412C>T	ENST00000327031.4	-	11	1372	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	FLII_ENST00000584444.1_5'Flank|FLII_ENST00000545457.2_Missense_Mutation_p.A329T|FLII_ENST00000379450.4_Missense_Mutation_p.A298T|FLII_ENST00000579294.1_Missense_Mutation_p.A372T|FLII_ENST00000578558.1_Missense_Mutation_p.A383T	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	383	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCACGGTCTGCGGGCTTGGGC	0.657																																					p.A383T													FLII,right_upper_lobe,carcinoma,+1,1	FLII	79	1	0			c.G1147A							C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	66.0	62.0	63.0		1147	1.5	0.0	17		63	0,8600		0,0,4300	no	missense	FLII	NM_002018.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	383/1270	18155412	1,13005	2203	4300	6503	SO:0001583	missense	2314	exon11			GGTCTGCGGGCTT	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1147G>A	17.37:g.18155412C>T	ENSP00000324573:p.Ala383Thr		Somatic	140	0.0071428571	1		WXS	Illumina HiSeq	Phase_I	209	0.02	4	NM_002018	86	0.00	0	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	6.082	0.383347	0.11524	2.27E-4	0.0	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.25085	1.82;1.82	5.81	1.54	0.23209	.	0.345212	0.33959	N	0.004382	T	0.10637	0.0260	L	0.34521	1.04	0.09310	N	1	P;P;B;B;B	0.41710	0.76;0.76;0.177;0.004;0.041	B;B;B;B;B	0.22753	0.041;0.041;0.013;0.001;0.005	T	0.34428	-0.9829	10	0.09843	T	0.71	-9.3042	7.9836	0.30198	0.0:0.6919:0.1146:0.1935	.	298;298;383;383;352	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	T	383;383;298	ENSP00000324573:A383T;ENSP00000368763:A298T	ENSP00000324573:A383T	A	-	1	0	FLII	18096137	0.001000	0.12720	0.008000	0.14137	0.104000	0.19210	1.100000	0.31025	0.371000	0.24564	0.655000	0.94253	GCA			0.657	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132032.2		NM_002018	
SARM1	23098	broad.mit.edu	37	17	26712058	26712058	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:26712058G>T	ENST00000457710.3	+	5	1763		c.e5-1		SARM1_ENST00000379061.4_Splice_Site	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1						innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GTGGGGTGCAGGTTCTTTAGG	0.647																																					.													.	SARM1	40		0			c.1392-1G>T												29.0	32.0	31.0					17																	26712058		2203	4300	6503	SO:0001630	splice_region_variant	23098	exon6			GGTGCAGGTTCTT	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1293-1G>T	17.37:g.26712058G>T			Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	288	0.02	6	NM_015077	0		0	O60277|Q7LGG3|Q9NXY5	Splice_Site	SNP	ENST00000457710.3	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.641956	0.87859	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1639	0.93546	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SARM1	23736185	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.805000	0.99149	2.511000	0.84671	0.591000	0.81541	.			0.647	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding		OTTHUMT00000255679.3		NM_015077	Intron
KIAA0100	9703	broad.mit.edu	37	17	26964021	26964021	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:26964021G>T	ENST00000528896.2	-	15	2013	c.1939C>A	c.(1939-1941)Ctc>Atc	p.L647I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.L504I|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L504I|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	647						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGATGGAGAGCATGGAAAGG	0.537																																					p.L647I													.	KIAA0100	175		0			c.C1939A												118.0	104.0	109.0					17																	26964021		2203	4300	6503	SO:0001583	missense	9703	exon15			TGGAGAGCATGGA	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1939C>A	17.37:g.26964021G>T	ENSP00000436773:p.Leu647Ile		Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	238	0.01	3	NM_014680	13	0.00	0	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345491	0.24426	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.24350	1.86;1.86	5.92	3.93	0.45458	FMP27, N-terminal (1);	0.295588	0.38720	N	0.001600	T	0.17492	0.0420	L	0.27053	0.805	0.34297	D	0.68392	B	0.29552	0.248	B	0.29524	0.103	T	0.18209	-1.0344	10	0.15952	T	0.53	.	13.2426	0.60006	0.064:0.0:0.8152:0.1208	.	647	Q14667	K0100_HUMAN	I	647;647;647;504	ENSP00000436773:L647I;ENSP00000446443:L504I	ENSP00000005905:L647I	L	-	1	0	KIAA0100	23988148	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.250000	0.43178	0.827000	0.34685	-1.075000	0.02238	CTC			0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390571.3		NM_014680	
CPD	1362	broad.mit.edu	37	17	28754503	28754503	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:28754503G>T	ENST00000225719.4	+	7	2020	c.1944G>T	c.(1942-1944)acG>acT	p.T648T	CPD_ENST00000543464.2_Silent_p.T401T	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	648	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGATCCTACGCAACCAGAAA	0.398																																					p.T648T													.	CPD	89		0			c.G1944T												152.0	135.0	141.0					17																	28754503		2203	4300	6503	SO:0001819	synonymous_variant	1362	exon7			TCCTACGCAACCA	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1944G>T	17.37:g.28754503G>T			Somatic	163	0.0122699387	2		WXS	Illumina HiSeq	Phase_I	234	0.02	4	NM_001304	6	0.00	0	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	CCDS11257.1																																																																																					0.398	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256214.3		NM_001304	
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																					.													.	.			0			.																																											0	.			CCAGGATATGACT	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G			Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	211	0.01	3	.	57	0.00	0		RNA	SNP	ENST00000417404.1	37																																																																																						0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000256203.1		NR_015341	
NF1	4763	broad.mit.edu	37	17	29664506	29664506	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:29664506G>T	ENST00000358273.4	+	43	6931	c.6548G>T	c.(6547-6549)cGg>cTg	p.R2183L	NF1_ENST00000356175.3_Missense_Mutation_p.R2162L|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2183					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCAGTTACCGGGACAGGTCA	0.453			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.R2183L			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586		11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.G6548T												144.0	130.0	135.0					17																	29664506		2203	4300	6503	SO:0001583	missense	4763	exon43	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	GTTACCGGGACAG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6548G>T	17.37:g.29664506G>T	ENSP00000351015:p.Arg2183Leu		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	228	0.02	4	NM_001042492	6	0.00	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769229	0.90020	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.10477	3.04;3.19;2.87	5.55	5.55	0.83447	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	L	0.52905	1.665	0.80722	D	1	D;B	0.63046	0.992;0.105	D;B	0.72982	0.979;0.082	T	0.00317	-1.1822	10	0.59425	D	0.04	.	19.8683	0.96840	0.0:0.0:1.0:0.0	.	2162;2183	P21359-2;P21359	.;NF1_HUMAN	L	2183;2162;1828	ENSP00000351015:R2183L;ENSP00000348498:R2162L;ENSP00000389907:R1828L	ENSP00000348498:R2162L	R	+	2	0	NF1	26688632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.274000	0.95731	2.753000	0.94483	0.655000	0.94253	CGG			0.453	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256351.2		NM_000267	
CDK5R1	8851	broad.mit.edu	37	17	30815393	30815393	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:30815393G>T	ENST00000313401.3	+	2	1444	c.755G>T	c.(754-756)aGc>aTc	p.S252I		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	252					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CTGGTGGAGAGCTGCAAGGAG	0.557																																					p.S252I													.	CDK5R1	30		0			c.G755T												172.0	158.0	163.0					17																	30815393		2203	4300	6503	SO:0001583	missense	8851	exon2			TGGAGAGCTGCAA	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.755G>T	17.37:g.30815393G>T	ENSP00000318486:p.Ser252Ile		Somatic	223	0	0		WXS	Illumina HiSeq	Phase_I	277	0.02	5	NM_003885	4	0.00	0	E1P664|Q5U0G3	Missense_Mutation	SNP	ENST00000313401.3	37	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241553	0.39598	.	.	ENSG00000176749	ENST00000313401	T	0.77620	-1.11	5.55	4.52	0.55395	Cyclin-like (2);	0.097817	0.64402	D	0.000002	T	0.73087	0.3542	N	0.14661	0.345	0.41884	D	0.990333	D;P	0.71674	0.998;0.56	D;B	0.65010	0.931;0.14	T	0.72564	-0.4255	10	0.42905	T	0.14	-24.9043	7.0875	0.25266	0.0897:0.1749:0.7354:0.0	.	252;252	Q8N619;Q15078	.;CD5R1_HUMAN	I	252	ENSP00000318486:S252I	ENSP00000318486:S252I	S	+	2	0	CDK5R1	27839506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.854000	0.55949	2.609000	0.88269	0.557000	0.71058	AGC			0.557	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256264.1		NM_003885	
SLC35G3	146861	broad.mit.edu	37	17	33521163	33521163	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:33521163C>T	ENST00000297307.5	-	1	249	c.164G>A	c.(163-165)gGc>gAc	p.G55D	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	55	EamA 1.					integral component of membrane (GO:0016021)											AGAAAGGGGGCCCACGAAGCC	0.647																																					p.G55D													.	.			0			c.G164A												64.0	69.0	67.0					17																	33521163		2203	4296	6499	SO:0001583	missense	146861	exon1			AGGGGGCCCACGA	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.164G>A	17.37:g.33521163C>T	ENSP00000297307:p.Gly55Asp		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	141	0.02	3	NM_152462	0		0	B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573315	0.28092	.	.	ENSG00000164729	ENST00000297307	T	0.53206	0.63	.	.	.	.	0.000000	0.45867	D	0.000338	T	0.45736	0.1357	N	0.24115	0.695	0.31753	N	0.634374	D	0.89917	1.0	D	0.97110	1.0	T	0.51148	-0.8742	9	0.72032	D	0.01	-6.949	3.5985	0.08016	2.0E-4:0.5013:0.4982:2.0E-4	.	55	Q8N808	S35G3_HUMAN	D	55	ENSP00000297307:G55D	ENSP00000297307:G55D	G	-	2	0	SLC35G3	30545276	0.998000	0.40836	0.403000	0.26384	0.405000	0.30901	1.479000	0.35453	0.064000	0.16427	0.064000	0.15345	GGC			0.647	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256445.2		NM_152462	
KRT24	192666	broad.mit.edu	37	17	38854821	38854821	+	Silent	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:38854821T>C	ENST00000264651.2	-	7	1499	c.1443A>G	c.(1441-1443)tcA>tcG	p.S481S		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	481	Tail.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTCCAGATCTTGAGTCACCAG	0.368																																					p.S481S	GBM(61;380 1051 14702 23642 31441)												.	KRT24	60		0			c.A1443G												130.0	144.0	139.0					17																	38854821		2203	4300	6503	SO:0001819	synonymous_variant	192666	exon7			AGATCTTGAGTCA		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1443A>G	17.37:g.38854821T>C			Somatic	317	0.0031545741	1		WXS	Illumina HiSeq	Phase_I	510	0.01	6	NM_019016	0		0	Q9NXG7	Silent	SNP	ENST00000264651.2	37	CCDS11372.1																																																																																					0.368	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257217.1		NM_019016	
KRT15	3866	broad.mit.edu	37	17	39673161	39673161	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:39673161G>T	ENST00000254043.3	-	3	4222	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	KRT15_ENST00000393981.3_Missense_Mutation_p.R48S|KRT15_ENST00000393976.2_Missense_Mutation_p.R213S|KRT15_ENST00000393974.3_Missense_Mutation_p.R48S	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	213	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGGACTCGGCGCAAGCCGTTG	0.592																																					p.R213S													.	KRT15	60		0			c.C637A												65.0	64.0	65.0					17																	39673161		2203	4300	6503	SO:0001583	missense	3866	exon3			CTCGGCGCAAGCC		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.637C>A	17.37:g.39673161G>T	ENSP00000254043:p.Arg213Ser		Somatic	63	0.0158730159	1		WXS	Illumina HiSeq	Phase_I	77	0.04	3	NM_002275	9	0.00	0	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927689	0.52759	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0	4.87	4.87	0.63330	Filament (1);	0.000000	0.49916	D	0.000122	D	0.97087	0.9048	H	0.95611	3.695	0.43368	D	0.995454	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.74023	0.982;0.968;0.968	D	0.97969	1.0342	10	0.87932	D	0	.	14.7065	0.69194	0.0:0.0:0.8549:0.1451	.	48;213;213	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	S	213;48;213;48;48	ENSP00000254043:R213S;ENSP00000377544:R48S;ENSP00000377546:R213S;ENSP00000377550:R48S;ENSP00000409282:R48S	ENSP00000254043:R213S	R	-	1	0	KRT15	36926687	0.996000	0.38824	1.000000	0.80357	0.171000	0.22731	4.705000	0.61838	2.518000	0.84900	0.655000	0.94253	CGC			0.592	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257301.1		NM_002275	
HAP1	9001	broad.mit.edu	37	17	39888331	39888331	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:39888331G>T	ENST00000310778.5	-	4	763	c.754C>A	c.(754-756)Ctc>Atc	p.L252I	HAP1_ENST00000341193.5_Missense_Mutation_p.L260I|HAP1_ENST00000393939.2_Missense_Mutation_p.L252I|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Missense_Mutation_p.L252I|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	252	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGCTGGAGGAGCTCATCCCGC	0.532																																					p.L260I													.	HAP1	48		0			c.C778A												95.0	94.0	95.0					17																	39888331		2203	4300	6503	SO:0001583	missense	9001	exon4			GGAGGAGCTCATC	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.754C>A	17.37:g.39888331G>T	ENSP00000309392:p.Leu252Ile		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	161	0.02	4	NM_001079870	1	0.00	0	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	G	14.57	2.573919	0.45902	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	3.46	2.48	0.30137	.	0.000000	0.36409	N	0.002611	T	0.61578	0.2358	M	0.82517	2.595	0.47374	D	0.999404	D;D;D;D	0.71674	0.996;0.998;0.996;0.997	D;D;D;D	0.85130	0.986;0.99;0.994;0.997	T	0.62469	-0.6848	10	0.87932	D	0	-7.9535	7.0484	0.25059	0.129:0.0:0.871:0.0	.	252;260;252;252	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	I	252;252;252;260	ENSP00000377513:L252I;ENSP00000309392:L252I;ENSP00000334002:L252I;ENSP00000343170:L260I	ENSP00000309392:L252I	L	-	1	0	HAP1	37141857	1.000000	0.71417	0.902000	0.35471	0.478000	0.33099	2.962000	0.49176	0.798000	0.33994	-0.219000	0.12488	CTC			0.532	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000389619.1		NM_003949	
GHDC	84514	broad.mit.edu	37	17	40342275	40342275	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:40342275G>T	ENST00000301671.8	-	8	1743	c.1302C>A	c.(1300-1302)ggC>ggA	p.G434G	GHDC_ENST00000587427.1_Silent_p.G434G|GHDC_ENST00000428494.2_Silent_p.G395G|GHDC_ENST00000593209.1_Silent_p.G434G|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000436923.2_Missense_Mutation_p.A464D|GHDC_ENST00000414034.3_Missense_Mutation_p.A464D			Q8N2G8	GHDC_HUMAN	GH3 domain containing	434						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGGGAGCAGAGCCCGCAGAGG	0.547																																					p.A464D													.	GHDC	63		0			c.C1391A												114.0	106.0	108.0					17																	40342275		2203	4300	6503	SO:0001819	synonymous_variant	84514	exon9			AGCAGAGCCCGCA	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1302C>A	17.37:g.40342275G>T			Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	212	0.01	3	NM_001142623	27	0.00	0	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576915	0.45902	.	.	ENSG00000167925	ENST00000414034;ENST00000436923	.	.	.	4.6	-2.98	0.05513	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.22745	N	0.998782	B	0.13594	0.008	B	0.14023	0.01	T	0.19647	-1.0299	7	0.48119	T	0.1	-17.138	4.057	0.09821	0.3175:0.0:0.4351:0.2475	.	464	Q8N2G8-2	.	D	464	.	ENSP00000399952:A464D	A	-	2	0	GHDC	37595801	1.000000	0.71417	0.527000	0.27925	0.142000	0.21351	0.901000	0.28445	-0.737000	0.04824	-1.191000	0.01696	GCT			0.547	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000449794.1		NM_032484	
C17orf53	78995	broad.mit.edu	37	17	42226163	42226163	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:42226163G>T	ENST00000319977.4	+	3	1229	c.992G>T	c.(991-993)aGc>aTc	p.S331I	C17orf53_ENST00000585683.1_Missense_Mutation_p.S331I|C17orf53_ENST00000245382.6_Missense_Mutation_p.S331I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	331										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCAAGGACTAGCTCTGGATTA	0.517																																					p.S331I													.	C17orf53	59		0			c.G992T												244.0	240.0	241.0					17																	42226163		2203	4300	6503	SO:0001583	missense	78995	exon3			GGACTAGCTCTGG	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.992G>T	17.37:g.42226163G>T	ENSP00000313500:p.Ser331Ile		Somatic	161	0.0062111801	1		WXS	Illumina HiSeq	Phase_I	261	0.03	9	NM_001171251	40	0.00	0	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148245	0.37923	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.46819	0.87;0.86	4.84	-7.3	0.01446	.	1.303370	0.04932	N	0.457017	T	0.30541	0.0768	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12156	0.007;0.007;0.007	T	0.18209	-1.0344	10	0.23302	T	0.38	4.0227	5.9597	0.19293	0.0998:0.0854:0.4808:0.334	.	331;331;331	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	I	331	ENSP00000313500:S331I;ENSP00000245382:S331I	ENSP00000245382:S331I	S	+	2	0	C17orf53	39581689	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	-0.887000	0.04152	-0.841000	0.04200	0.561000	0.74099	AGC			0.517	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457697.1		NM_024032	
GRN	2896	broad.mit.edu	37	17	42427035	42427035	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:42427035G>T	ENST00000053867.3	+	4	327	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	GRN_ENST00000589265.1_Splice_Site_p.A89S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	89					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTTCCACAGGCCGTGGCATG	0.592																																					p.A89S													.	GRN	51		0			c.G265T												45.0	50.0	48.0					17																	42427035		2203	4300	6503	SO:0001630	splice_region_variant	2896	exon4			CCACAGGCCGTGG	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.265-1G>T	17.37:g.42427035G>T			Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	231	0.02	4	NM_002087	226	0.00	0	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Splice_Site	SNP	ENST00000053867.3	37	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.606333	0.87157	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	D	0.84442	-1.85	4.04	4.04	0.47022	Granulin (2);	0.519849	0.17772	N	0.162535	D	0.91240	0.7239	M	0.92880	3.355	0.54753	D	0.999988	P	0.45396	0.857	P	0.51324	0.666	D	0.92585	0.6078	9	.	.	.	-13.9008	11.5952	0.50968	0.0:0.0:1.0:0.0	.	89	P28799	GRN_HUMAN	S	89	ENSP00000053867:A89S	.	A	+	1	0	GRN	39782561	1.000000	0.71417	0.680000	0.29994	0.275000	0.26752	4.952000	0.63618	2.087000	0.62958	0.394000	0.25966	GCC			0.592	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457766.1		NM_002087	Missense_Mutation
HEXIM1	10614	broad.mit.edu	37	17	43227331	43227331	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:43227331C>T	ENST00000332499.2	+	1	2648	c.774C>T	c.(772-774)gaC>gaT	p.D258D	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	258					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGGGAGGGGACGGCAGCGAGT	0.617																																					p.D258D													.	HEXIM1	25		0			c.C774T												50.0	55.0	54.0					17																	43227331		2203	4300	6503	SO:0001819	synonymous_variant	10614	exon1			AGGGGACGGCAGC	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.774C>T	17.37:g.43227331C>T			Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	207	0.01	3	NM_006460	29	0.00	0	B2R8Y5	Silent	SNP	ENST00000332499.2	37	CCDS11495.1																																																																																					0.617	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449821.2		NM_006460	
WNT9B	7484	broad.mit.edu	37	17	44953813	44953813	+	Missense_Mutation	SNP	G	G	A	rs533419961		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:44953813G>A	ENST00000290015.2	+	4	856	c.803G>A	c.(802-804)gGc>gAc	p.G268D	WNT9B_ENST00000393461.2_Missense_Mutation_p.G268D	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	268					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCAGGCAGGGCAGCCTCACC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		20941	0.001		0.0	False		,,,				2504	0.0				p.G268D													.	WNT9B	37		0			c.G803A												48.0	49.0	49.0					17																	44953813		2199	4298	6497	SO:0001583	missense	7484	exon4			GGCAGGGCAGCCT	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.803G>A	17.37:g.44953813G>A	ENSP00000290015:p.Gly268Asp		Somatic	118	0.0084745763	1		WXS	Illumina HiSeq	Phase_I	205	0.02	4	NM_003396	0		0	Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268999	0.59540	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.78595	-1.19;-0.98	4.8	4.8	0.61643	.	0.749728	0.12989	N	0.422636	T	0.69726	0.3143	N	0.24115	0.695	0.46241	D	0.998943	P;B	0.36354	0.549;0.062	B;B	0.38378	0.272;0.119	T	0.66356	-0.5944	10	0.26408	T	0.33	.	18.0484	0.89340	0.0:0.0:1.0:0.0	.	268;268	E7EPC3;O14905	.;WNT9B_HUMAN	D	262;268;268	ENSP00000377105:G268D;ENSP00000290015:G268D	ENSP00000290015:G268D	G	+	2	0	WNT9B	42308812	0.995000	0.38212	0.683000	0.30040	0.246000	0.25737	6.599000	0.74127	2.492000	0.84095	0.561000	0.74099	GGC			0.642	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440433.1		NM_003396	
NGFR	4804	broad.mit.edu	37	17	47590258	47590258	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:47590258G>T	ENST00000172229.3	+	6	1296	c.1171G>T	c.(1171-1173)Gcc>Tcc	p.A391S	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A297S	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	391	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGCAAGCTGGGCCACCCAGGA	0.692																																					p.A391S													.	NGFR	46		0			c.G1171T												26.0	28.0	28.0					17																	47590258		2202	4299	6501	SO:0001583	missense	4804	exon6			AGCTGGGCCACCC	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1171G>T	17.37:g.47590258G>T	ENSP00000172229:p.Ala391Ser		Somatic	93	0.0215053763	2		WXS	Illumina HiSeq	Phase_I	151	0.04	6	NM_002507	32	0.00	0	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	7.265	0.605885	0.14002	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.84944	-1.92;-1.92	4.85	3.87	0.44632	Death (3);DEATH-like (2);	0.798013	0.11068	N	0.603245	T	0.65123	0.2661	N	0.10707	0.03	0.31048	N	0.715558	B	0.06786	0.001	B	0.15484	0.013	T	0.60172	-0.7315	10	0.06099	T	0.92	-9.378	5.3954	0.16266	0.0965:0.0:0.5785:0.325	.	391	P08138	TNR16_HUMAN	S	391;297	ENSP00000172229:A391S;ENSP00000421731:A297S	ENSP00000172229:A391S	A	+	1	0	NGFR	44945257	1.000000	0.71417	0.997000	0.53966	0.621000	0.37620	1.928000	0.40104	2.233000	0.73108	0.561000	0.74099	GCC			0.692	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365150.1			
SLC35B1	10237	broad.mit.edu	37	17	47780277	47780277	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:47780277G>T	ENST00000240333.6	-	8	980	c.859C>A	c.(859-861)Ctc>Atc	p.L287I	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L324I			P78383	S35B1_HUMAN	solute carrier family 35, member B1	287					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						TTGGCGAAGAGGATCACAGAG	0.488																																					p.L287I													.	SLC35B1	21		0			c.C859A												125.0	119.0	121.0					17																	47780277		2203	4300	6503	SO:0001583	missense	10237	exon8			CGAAGAGGATCAC	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.859C>A	17.37:g.47780277G>T	ENSP00000240333:p.Leu287Ile		Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	234	0.02	4	NM_005827	813	0.00	0	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371966	0.42003	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.71579	-0.58;-0.58;1.39	5.16	4.2	0.49525	.	0.065859	0.64402	D	0.000007	T	0.56337	0.1978	N	0.20530	0.585	0.80722	D	1	B;B	0.23937	0.094;0.094	B;B	0.28011	0.085;0.085	T	0.51849	-0.8653	10	0.27785	T	0.31	-10.5586	13.1127	0.59283	0.0771:0.0:0.9229:0.0	.	220;287	D3DTX1;P78383	.;S35B1_HUMAN	I	287;324;163;163;220	ENSP00000240333:L287I;ENSP00000409548:L324I;ENSP00000423323:L220I	ENSP00000240333:L287I	L	-	1	0	SLC35B1	45135276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.629000	0.46485	1.393000	0.46605	0.655000	0.94253	CTC			0.488	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365564.2		NM_005827	
DLX3	1747	hgsc.bcm.edu	37	17	48069062	48069063	+	Frame_Shift_Ins	INS	-	-	G	rs373291908|rs138972403	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:48069062_48069063insG	ENST00000434704.2	-	3	907_908	c.682_683insC	c.(682-684)cgcfs	p.R228fs	DLX3_ENST00000512495.2_Frame_Shift_Ins_p.R108fs	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	228					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGCTGACTGCGGGCAGGGGCC	0.639																																					p.R228fs													.	DLX3	28		0			c.683_684insC																																									SO:0001589	frameshift_variant	1747	exon3			TGACTGCGGGCAG		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.683dupC	17.37:g.48069065_48069065dupG	ENSP00000389870:p.Arg228fs		Somatic	77	0	0		WXS	Illumina HiSeq	.	127	0.06	8	NM_005220	1	0.00	0	B3KQL6	Frame_Shift_Ins	INS	ENST00000434704.2	37	CCDS11556.1																																																																																					0.639	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366307.1			
TOB1	10140	broad.mit.edu	37	17	48941031	48941031	+	Silent	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:48941031A>G	ENST00000268957.3	-	3	776	c.348T>C	c.(346-348)gaT>gaC	p.D116D	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Silent_p.D116D	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	116					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TTTCATTATTATCATCCACGT	0.438											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D116D	NSCLC(144;643 1919 24513 29423 40686)												.	TOB1	40		0			c.T348C												122.0	114.0	117.0					17																	48941031		2203	4300	6503	SO:0001819	synonymous_variant	10140	exon2			ATTATTATCATCC	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.348T>C	17.37:g.48941031A>G			Somatic	216	0	0	958	WXS	Illumina HiSeq	Phase_I	274	0.01	3	NM_005749	52	0.00	0	B2R9T0|D3DTY3|Q4KMQ0	Silent	SNP	ENST00000268957.3	37	CCDS11576.1																																																																																					0.438	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000368364.1			
PPM1E	22843	hgsc.bcm.edu	37	17	56833454	56833454	+	Silent	SNP	G	G	A	rs77856248		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:56833454G>A	ENST00000308249.2	+	1	225	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			Gcgagccggagccggaacccg	0.667																																					p.E32E													PPM1E,colon,carcinoma,0,1	PPM1E	0	1	0			c.G96A												14.0	20.0	18.0					17																	56833454		2185	4284	6469	SO:0001819	synonymous_variant	22843	exon1			GCCGGAGCCGGAA	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.96G>A	17.37:g.56833454G>A			Somatic	122	0	0		WXS	Illumina HiSeq	.	212	0.07	15	NM_014906	0		0	Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	CCDS11613.1																																																																																					0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445458.1		NM_014906	
USP32	84669	broad.mit.edu	37	17	58286906	58286906	+	Splice_Site	DEL	T	T	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:58286906delT	ENST00000300896.4	-	22	2619		c.e22-2		USP32_ENST00000592339.1_Splice_Site	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TATGGTCCACTATAAATATAA	0.363																																					.													.	USP32	128		0			c.2425-2A>-												55.0	57.0	56.0					17																	58286906		2203	4300	6503	SO:0001630	splice_region_variant	84669	exon23			GTCCACTATAAAT	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2425-2A>-	17.37:g.58286906delT			Somatic	416	0	0		WXS	Illumina HiSeq	Phase_I	584	0.01	7	NM_032582	1	0.00	0	Q7Z5T3|Q9BX85|Q9Y591	Splice_Site	DEL	ENST00000300896.4	37	CCDS32697.1																																																																																					0.363	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449235.2		NM_032582	Intron
CEP112	201134	broad.mit.edu	37	17	64026113	64026113	+	Missense_Mutation	SNP	C	C	T	rs369403378		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:64026113C>T	ENST00000392769.2	-	13	1465	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	CEP112_ENST00000535342.2_Missense_Mutation_p.R416H|CEP112_ENST00000541355.1_Missense_Mutation_p.R51H|CEP112_ENST00000537949.1_Missense_Mutation_p.R374H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	416					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTGCTGGACACGGGCCTCCAG	0.398																																					p.R416H													CEP112_ENST00000392769,NS,carcinoma,0,2	CEP112	192	2	0			c.G1247A							C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	87.0	82.0	83.0		1247,1247	5.1	1.0	17		83	0,8600		0,0,4300	no	missense,missense	CEP112	NM_001199165.1,NM_145036.3	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	416/956,416/956	64026113	2,13004	2203	4300	6503	SO:0001583	missense	201134	exon13			TGGACACGGGCCT	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1247G>A	17.37:g.64026113C>T	ENSP00000376522:p.Arg416His		Somatic	107	0.0186915888	2		WXS	Illumina HiSeq	Phase_I	198	0.02	3	NM_001199165	4	0.00	0	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639772	0.67244	4.54E-4	0.0	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.60672	0.17;0.17;0.39;0.18	6.07	5.09	0.68999	.	0.057868	0.64402	D	0.000003	T	0.74168	0.3681	M	0.68952	2.095	0.37991	D	0.933924	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.966;0.966	T	0.79948	-0.1588	10	0.66056	D	0.02	-10.3758	16.6491	0.85184	0.1309:0.8691:0.0:0.0	.	374;374;416	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	H	416;416;51;374	ENSP00000442784:R416H;ENSP00000376522:R416H;ENSP00000443711:R51H;ENSP00000440775:R374H	ENSP00000376522:R416H	R	-	2	0	CEP112	61456575	1.000000	0.71417	0.986000	0.45419	0.927000	0.56198	5.615000	0.67702	1.526000	0.49068	0.655000	0.94253	CGT			0.398	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446582.1		NM_145036	
ABCA5	23461	broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	67251698	67251698	+	Missense_Mutation	SNP	G	G	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:67251698G>C	ENST00000392676.3	-	31	4118	c.4054C>G	c.(4054-4056)Cca>Gca	p.P1352A	ABCA5_ENST00000392677.2_Missense_Mutation_p.P1353A|ABCA5_ENST00000588877.1_Missense_Mutation_p.P1352A			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1352	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCTGAAGTTGGTTCAATATCA	0.308																																					p.P1352A													.	ABCA5	162		0			c.C4054G												38.0	41.0	40.0					17																	67251698		2203	4295	6498	SO:0001583	missense	23461	exon30			AAGTTGGTTCAAT	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4054C>G	17.37:g.67251698G>C	ENSP00000376443:p.Pro1352Ala		Somatic	438	0	0		WXS	Illumina HiSeq	Phase_I	596	0.03	17	NM_018672	3	0.00	0	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113363	0.56398	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.94897	-3.55;-3.55	5.62	4.63	0.57726	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000005	D	0.91459	0.7304	L	0.42245	1.32	0.46044	D	0.998836	B	0.16603	0.018	B	0.19148	0.024	D	0.87783	0.2613	9	.	.	.	.	16.6941	0.85330	0.0:0.1297:0.8703:0.0	.	1352	Q8WWZ7	ABCA5_HUMAN	A	1353;1352	ENSP00000376444:P1353A;ENSP00000376443:P1352A	.	P	-	1	0	ABCA5	64763293	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	4.156000	0.58138	1.474000	0.48178	0.650000	0.86243	CCA			0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000450654.1		NM_018672	
SPHK1	8877	broad.mit.edu	37	17	74382929	74382929	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:74382929G>T	ENST00000545180.1	+	8	1226	c.417G>T	c.(415-417)acG>acT	p.T139T	SPHK1_ENST00000392496.3_Silent_p.T139T|SPHK1_ENST00000323374.4_Silent_p.T225T|SPHK1_ENST00000592299.1_Silent_p.T139T|SPHK1_ENST00000590959.1_Silent_p.T153T			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	139	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)	p.T225T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CCAACTGCACGCTATTGCTGT	0.607																																					p.T225T	GBM(90;966 1307 27369 33775 44498)												SPHK1,NS,carcinoma,0,1	SPHK1	24	1	1	Substitution - coding silent(1)	lung(1)	c.G675T												78.0	78.0	78.0					17																	74382929		2203	4300	6503	SO:0001819	synonymous_variant	8877	exon6			CTGCACGCTATTG	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.417G>T	17.37:g.74382929G>T			Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	123	0.02	3	NM_182965	36	0.00	0	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	ENST00000545180.1	37	CCDS45785.1																																																																																					0.607	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450113.1		NM_182965, NM_021972	
ST6GALNAC1	55808	broad.mit.edu	37	17	74625146	74625146	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:74625146G>T	ENST00000156626.7	-	2	978	c.779C>A	c.(778-780)cCt>cAt	p.P260H	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	260					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						ATCCCACCGAGGCTCAGATTT	0.557																																					p.P260H													.	ST6GALNAC1	42		0			c.C779A												62.0	66.0	65.0					17																	74625146		2203	4300	6503	SO:0001583	missense	55808	exon2			CACCGAGGCTCAG	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.779C>A	17.37:g.74625146G>T	ENSP00000156626:p.Pro260His		Somatic	205	0	0		WXS	Illumina HiSeq	Phase_I	275	0.01	4	NM_018414	2	0.00	0	Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910073	0.52439	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.55930	1.45;0.49	4.87	4.87	0.63330	.	0.138312	0.49305	D	0.000150	T	0.64394	0.2594	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67654	-0.5615	10	0.72032	D	0.01	-22.2042	16.5703	0.84609	0.0:0.0:1.0:0.0	.	260	Q9NSC7	SIA7A_HUMAN	H	260	ENSP00000156626:P260H;ENSP00000351991:P260H	ENSP00000156626:P260H	P	-	2	0	ST6GALNAC1	72136741	1.000000	0.71417	0.895000	0.35142	0.161000	0.22273	5.466000	0.66731	2.426000	0.82243	0.561000	0.74099	CCT			0.557	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450974.1		NM_018414	
MGAT5B	146664	broad.mit.edu	37	17	74928843	74928843	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:74928843G>T	ENST00000569840.2	+	11	1982	c.1408G>T	c.(1408-1410)Gcg>Tcg	p.A470S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.A481S|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A470S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	470					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGCAAGGAGGCGAGCATCTG	0.667																																					p.A481S													.	MGAT5B	98		0			c.G1441T												77.0	64.0	69.0					17																	74928843		2203	4300	6503	SO:0001583	missense	146664	exon10			AAGGAGGCGAGCA	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1408G>T	17.37:g.74928843G>T	ENSP00000456037:p.Ala470Ser		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	181	0.02	3	NM_198955	1	0.00	0	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237266	0.22711	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.44881	0.91;0.91	4.29	3.3	0.37823	.	0.065361	0.64402	D	0.000010	T	0.31389	0.0795	L	0.43152	1.355	0.58432	D	0.99999	B;B	0.32245	0.361;0.29	B;B	0.34652	0.187;0.082	T	0.04678	-1.0934	10	0.06625	T	0.88	-22.8197	11.2944	0.49269	0.0:0.1998:0.8002:0.0	.	481;470	Q3V5L5-2;Q3V5L5-5	.;.	S	470;481	ENSP00000301618:A470S;ENSP00000391227:A481S	ENSP00000301618:A470S	A	+	1	0	MGAT5B	72440438	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	5.198000	0.65147	0.750000	0.32877	0.462000	0.41574	GCG			0.667	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000460624.2		NM_144677	
B3GNTL1	146712	broad.mit.edu	37	17	80915311	80915311	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:80915311G>T	ENST00000320865.3	-	9	798	c.785C>A	c.(784-786)gCg>gAg	p.A262E	B3GNTL1_ENST00000571954.1_5'Flank|B3GNTL1_ENST00000576599.1_Missense_Mutation_p.A151E	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	262							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGTGAAGGCCGCCCAGCGGGG	0.687																																					p.A262E													.	B3GNTL1	40		0			c.C785A												18.0	19.0	19.0					17																	80915311		2199	4298	6497	SO:0001583	missense	146712	exon9			AAGGCCGCCCAGC	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.785C>A	17.37:g.80915311G>T	ENSP00000319979:p.Ala262Glu		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	178	0.02	4	NM_001009905	4	0.00	0	Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	G	0.433	-0.902423	0.02453	.	.	ENSG00000175711	ENST00000320865	T	0.39997	1.05	4.4	3.39	0.38822	.	0.706819	0.14856	N	0.294399	T	0.21227	0.0511	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	9	.	.	.	-0.9404	11.2254	0.48880	0.0:0.0:0.808:0.192	.	262	Q67FW5	B3GNL_HUMAN	E	262	ENSP00000319979:A262E	.	A	-	2	0	B3GNTL1	78508600	0.979000	0.34478	0.149000	0.22428	0.509000	0.34042	3.618000	0.54188	0.903000	0.36546	0.591000	0.81541	GCG			0.687	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438949.1		NM_001009905	
PTPRM	5797	broad.mit.edu	37	18	7774226	7774226	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:7774226G>T	ENST00000332175.8	+	2	1190	c.153G>T	c.(151-153)gtG>gtT	p.V51V	PTPRM_ENST00000580170.1_Silent_p.V51V|PTPRM_ENST00000400060.4_Silent_p.V51V|PTPRM_ENST00000400053.4_5'UTR	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	51	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGAGCAAGTGAACACCTTGA	0.383																																					p.V51V													PTPRM,NS,carcinoma,+2,1	PTPRM	185	1	0			c.G153T												207.0	183.0	191.0					18																	7774226		2203	4300	6503	SO:0001819	synonymous_variant	5797	exon2			GCAAGTGAACACC	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.153G>T	18.37:g.7774226G>T			Somatic	137	0	0		WXS	Illumina HiSeq	Phase_I	152	0.03	4	NM_001105244	2	0.00	0	A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	CCDS11840.1																																																																																					0.383	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000254456.1			
CEP192	55125	broad.mit.edu	37	18	13048962	13048962	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:13048962G>T	ENST00000325971.8	+	14	1977	c.384G>T	c.(382-384)gaG>gaT	p.E128D	CEP192_ENST00000430049.2_Missense_Mutation_p.E249D|CEP192_ENST00000506447.1_Missense_Mutation_p.E724D			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	128					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCATTGCAGAGGCATCAGTTA	0.413																																					p.E724D													.	CEP192	340		0			c.G2172T												82.0	80.0	81.0					18																	13048962		2203	4300	6503	SO:0001583	missense	55125	exon16			TGCAGAGGCATCA	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.384G>T	18.37:g.13048962G>T	ENSP00000317156:p.Glu128Asp		Somatic	131	0.0076335878	1		WXS	Illumina HiSeq	Phase_I	139	0.02	3	NM_032142	2	0.00	0	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	G	0.015	-1.561673	0.00903	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.03920	3.76;3.92;3.9	5.14	-3.83	0.04269	.	1.116420	0.07031	N	0.828401	T	0.01222	0.0040	N	0.01352	-0.895	0.24587	N	0.993843	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.44436	-0.9328	10	0.05525	T	0.97	-1.8271	2.1044	0.03688	0.1008:0.1967:0.2063:0.4962	.	249;724;128	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	D	724;128;128;249	ENSP00000427550:E724D;ENSP00000317156:E128D;ENSP00000389190:E249D	ENSP00000317156:E128D	E	+	3	2	CEP192	13038962	0.982000	0.34865	0.110000	0.21437	0.197000	0.23852	0.046000	0.14035	-0.575000	0.05982	-0.885000	0.02943	GAG			0.413	CEP192-201	KNOWN	basic	protein_coding	protein_coding				NM_032142	
SLC14A2	8170	broad.mit.edu	37	18	43248365	43248365	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:43248365G>A	ENST00000255226.6	+	15	2775	c.1959G>A	c.(1957-1959)ctG>ctA	p.L653L	SLC14A2_ENST00000589658.1_Silent_p.L130L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.L653L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	653					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGTGGGGCTGCTGATGGCCG	0.577																																					p.L653L													SLC14A2,NS,carcinoma,+2,1	SLC14A2	121	1	0			c.G1959A												161.0	140.0	147.0					18																	43248365		2203	4300	6503	SO:0001819	synonymous_variant	8170	exon16			GGGGCTGCTGATG	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1959G>A	18.37:g.43248365G>A			Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	143	0.03	4	NM_001242692	1	0.00	0	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																					0.577	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255858.1			
EPG5	57724	broad.mit.edu	37	18	43464694	43464694	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:43464694G>T	ENST00000282041.5	-	30	5226	c.5192C>A	c.(5191-5193)tCt>tAt	p.S1731Y	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1731					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAAGAAAGGAGACAGCAGGGA	0.418																																					p.S1731Y													.	EPG5	199		0			c.C5192A												109.0	110.0	110.0					18																	43464694		1905	4119	6024	SO:0001583	missense	57724	exon30			AAAGGAGACAGCA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5192C>A	18.37:g.43464694G>T	ENSP00000282041:p.Ser1731Tyr		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	102	0.04	4	NM_020964	1	0.00	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602626	0.66445	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.12147	2.71	5.83	5.83	0.93111	.	.	.	.	.	T	0.33904	0.0879	L	0.53249	1.67	0.58432	D	0.999998	D	0.67145	0.996	D	0.63192	0.912	T	0.00722	-1.1594	9	0.72032	D	0.01	-8.1941	20.1338	0.98010	0.0:0.0:1.0:0.0	.	1731	Q9HCE0	EPG5_HUMAN	Y	1731;606	ENSP00000282041:S1731Y	ENSP00000282041:S1731Y	S	-	2	0	EPG5	41718692	1.000000	0.71417	0.781000	0.31783	0.166000	0.22503	9.824000	0.99380	2.770000	0.95276	0.655000	0.94253	TCT			0.418	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445081.1		NM_020964	
EPG5	57724	broad.mit.edu	37	18	43519645	43519645	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:43519645G>T	ENST00000282041.5	-	10	2054	c.2020C>A	c.(2020-2022)Ccc>Acc	p.P674T		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	674					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATAGAGTAGGGCTGTTGGGCC	0.433																																					p.P674T													EPG5,NS,carcinoma,+2,1	EPG5	199	1	0			c.C2020A												101.0	93.0	96.0					18																	43519645		1892	4113	6005	SO:0001583	missense	57724	exon10			AGTAGGGCTGTTG	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2020C>A	18.37:g.43519645G>T	ENSP00000282041:p.Pro674Thr		Somatic	282	0	0		WXS	Illumina HiSeq	Phase_I	269	0.03	7	NM_020964	2	0.00	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	7.037	0.561837	0.13498	.	.	ENSG00000152223	ENST00000282041	T	0.11712	2.75	5.4	5.4	0.78164	.	0.059168	0.64402	D	0.000002	T	0.12646	0.0307	L	0.43152	1.355	0.34913	D	0.747681	B;B	0.33940	0.433;0.264	B;B	0.30029	0.11;0.033	T	0.09751	-1.0660	10	0.52906	T	0.07	-14.9273	19.1711	0.93578	0.0:0.0:1.0:0.0	.	674;674	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	T	674	ENSP00000282041:P674T	ENSP00000282041:P674T	P	-	1	0	EPG5	41773643	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.732000	0.62029	2.518000	0.84900	0.462000	0.41574	CCC			0.433	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445081.1		NM_020964	
ATP8B1	5205	broad.mit.edu	37	18	55355660	55355660	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:55355660C>T	ENST00000283684.4	-	12	1299	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	ATP8B1_ENST00000536015.1_Missense_Mutation_p.A434T|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	434					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A434S(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTAGCTTTTGCGGGTGTGTCC	0.443																																					p.A434T													ATP8B1,NS,carcinoma,0,2	ATP8B1	126	2	1	Substitution - Missense(1)	lung(1)	c.G1300A												272.0	247.0	255.0					18																	55355660		2203	4300	6503	SO:0001583	missense	5205	exon13			CTTTTGCGGGTGT	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1300G>A	18.37:g.55355660C>T	ENSP00000283684:p.Ala434Thr		Somatic	208	0.0048076923	1		WXS	Illumina HiSeq	Phase_I	215	0.02	5	NM_005603	2	0.00	0	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998116	0.74818	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.90563	-2.69;-2.69	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95430	0.8515	10	0.87932	D	0	.	19.3348	0.94312	0.0:1.0:0.0:0.0	.	434	O43520	AT8B1_HUMAN	T	434	ENSP00000283684:A434T;ENSP00000445359:A434T	ENSP00000283684:A434T	A	-	1	0	ATP8B1	53506658	1.000000	0.71417	0.322000	0.25334	0.351000	0.29236	5.777000	0.68931	2.660000	0.90430	0.655000	0.94253	GCA			0.443	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256097.1		NM_005603	
CAMSAP3	57662	mdanderson.org	37	19	7680360	7680360	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:7680360C>T	ENST00000160298.4	+	13	2968	c.2867C>T	c.(2866-2868)gCg>gTg	p.A956V	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.A983V	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	956					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GTCCCGATGGCGACTCCAGCC	0.716																																					p.A983V													.	.			0			c.C2948T												3.0	5.0	4.0					19																	7680360		1711	3554	5265	SO:0001583	missense	57662	exon15			CGATGGCGACTCC	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2867C>T	19.37:g.7680360C>T	ENSP00000160298:p.Ala956Val		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	30	0.10	3	NM_001080429	24	0.00	0	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015324	0.19355	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.16897	2.31;2.31	2.83	1.75	0.24633	.	.	.	.	.	T	0.13329	0.0323	L	0.40543	1.245	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.26643	-1.0097	9	0.31617	T	0.26	-1.1938	7.9999	0.30291	0.0:0.8626:0.0:0.1374	.	967;956;983	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	V	983;956	ENSP00000416797:A983V;ENSP00000160298:A956V	ENSP00000160298:A956V	A	+	2	0	KIAA1543	7586360	.	.	0.004000	0.12327	0.035000	0.12851	.	.	0.473000	0.27368	0.305000	0.20034	GCG			0.716	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459300.1		XM_048362	
MYO1F	4542	broad.mit.edu	37	19	8609310	8609310	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:8609310G>A	ENST00000338257.8	-	14	1662	c.1395C>T	c.(1393-1395)tgC>tgT	p.C465C	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	465	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCATGGTGGCGCACACGTCGT	0.682																																					p.C465C													.	MYO1F	128		0			c.C1395T												20.0	25.0	23.0					19																	8609310		2091	4221	6312	SO:0001819	synonymous_variant	4542	exon14			GGTGGCGCACACG	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1395C>T	19.37:g.8609310G>A			Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	63	0.05	3	NM_012335	5	0.00	0	Q8WWN7	Silent	SNP	ENST00000338257.8	37	CCDS42494.1																																																																																					0.682	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342716.2			
OR2Z1	284383	broad.mit.edu	37	19	8841539	8841539	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:8841539G>A	ENST00000324060.2	+	1	224	c.149G>A	c.(148-150)cGt>cAt	p.R50H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCTTGATCCGTGTGGACTCC	0.547																																					p.R50H													OR2Z1,NS,carcinoma,0,1	OR2Z1	53	1	0			c.G149A												161.0	141.0	148.0					19																	8841539		2203	4300	6503	SO:0001583	missense	284383	exon1			TGATCCGTGTGGA	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.149G>A	19.37:g.8841539G>A	ENSP00000316284:p.Arg50His		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	199	0.02	3	NM_001004699	0		0	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182007	0.06340	.	.	ENSG00000181733	ENST00000324060	T	0.01076	5.37	4.23	-6.56	0.01848	GPCR, rhodopsin-like superfamily (1);	2.774980	0.00817	N	0.001550	T	0.00784	0.0026	N	0.10972	0.075	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48614	-0.9020	10	0.06625	T	0.88	.	10.991	0.47549	0.5863:0.0:0.4137:0.0	.	50	Q8NG97	OR2Z1_HUMAN	H	50	ENSP00000316284:R50H	ENSP00000316284:R50H	R	+	2	0	OR2Z1	8702539	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.778000	0.04664	-1.410000	0.02035	-1.150000	0.01838	CGT			0.547	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459954.1			
MAST1	22983	broad.mit.edu	37	19	12969240	12969240	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:12969240G>T	ENST00000251472.4	+	11	1181	c.1142G>T	c.(1141-1143)aGc>aTc	p.S381I	MAST1_ENST00000591495.1_Missense_Mutation_p.S377I	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGCTCATAAGCAACGGTGCC	0.642																																					p.S381I													.	MAST1	214		0			c.G1142T												89.0	95.0	93.0					19																	12969240		2203	4300	6503	SO:0001583	missense	22983	exon11			TCATAAGCAACGG	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1142G>T	19.37:g.12969240G>T	ENSP00000251472:p.Ser381Ile		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	181	0.02	3	NM_014975	1	0.00	0		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561173	0.86335	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.25085	1.82	4.75	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094954	0.64402	D	0.000001	T	0.47210	0.1433	L	0.58101	1.795	0.80722	D	1	D;P	0.76494	0.999;0.899	D;P	0.73380	0.98;0.815	T	0.48127	-0.9062	10	0.87932	D	0	-35.8268	15.6086	0.76696	0.0:0.0:1.0:0.0	.	381;381	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	I	381	ENSP00000251472:S381I	ENSP00000251472:S381I	S	+	2	0	MAST1	12830240	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.855000	0.99526	2.363000	0.80096	0.561000	0.74099	AGC			0.642	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451733.2		NM_014975	
ATP13A1	57130	mdanderson.org	37	19	19767903	19767903	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:19767903G>T	ENST00000357324.6	-	5	832	c.806C>A	c.(805-807)aCg>aAg	p.T269K	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.T151K	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	269						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CATGGATAGCGTAAAGACGCT	0.587																																					p.T269K	Esophageal Squamous(142;920 1789 9047 14684 24777)												.	.			0			c.C806A												48.0	43.0	45.0					19																	19767903		2203	4300	6503	SO:0001583	missense	57130	exon5			GATAGCGTAAAGA	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.806C>A	19.37:g.19767903G>T	ENSP00000349877:p.Thr269Lys		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_020410	13	0.00	0	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595810	0.86953	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.88741	-2.42;-2.42	4.89	4.89	0.63831	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.978	D	0.97005	0.9732	10	0.72032	D	0.01	-20.358	15.5416	0.76052	0.0:0.0:1.0:0.0	.	269;151	Q9HD20;Q9HD20-2	AT131_HUMAN;.	K	151;269	ENSP00000291503:T151K;ENSP00000349877:T269K	ENSP00000291503:T151K	T	-	2	0	ATP13A1	19628903	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	9.386000	0.97228	2.278000	0.76064	0.467000	0.42956	ACG			0.587	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329005.1		NM_020410	
ZNF208	7757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	22156903	22156903	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:22156903C>T	ENST00000397126.4	-	4	1081	c.933G>A	c.(931-933)aaG>aaA	p.K311K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGCTTCTCTCCAG	0.413																																					p.K311K													.	.			0			c.G933A												59.0	63.0	61.0					19																	22156903		2112	4259	6371	SO:0001819	synonymous_variant	7757	exon4			GTAGGGCTTCTCT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.933G>A	19.37:g.22156903C>T			Somatic	95	0	0		WXS	Illumina HiSeq	.	115	0.50	58	NM_007153	1	0.00	0		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																					0.413	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464302.1		NM_007153	
CCNE1	898	broad.mit.edu	37	19	30308069	30308069	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:30308069C>T	ENST00000262643.3	+	5	485	c.206C>T	c.(205-207)gCa>gTa	p.A69V	CCNE1_ENST00000357943.5_Missense_Mutation_p.A69V|CCNE1_ENST00000444983.2_Missense_Mutation_p.A54V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	69					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GCAGTCTGTGCAGACCCCTGC	0.458			A		serous ovarian																																p.A69V				Dom	yes		19	19q12	898	cyclin E1		E	.	CCNE1	49		0			c.C206T												97.0	90.0	92.0					19																	30308069		2203	4300	6503	SO:0001583	missense	898	exon5			TCTGTGCAGACCC	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.206C>T	19.37:g.30308069C>T	ENSP00000262643:p.Ala69Val		Somatic	123	0.0081300813	1		WXS	Illumina HiSeq	Phase_I	112	0.03	3	NM_001238	44	0.00	0	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366951	0.24771	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.42900	1.96;0.96;1.96	5.33	-2.78	0.05859	.	0.664870	0.16230	N	0.223657	T	0.15219	0.0367	N	0.03608	-0.345	0.09310	N	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.17653	-1.0362	10	0.29301	T	0.29	.	6.8189	0.23847	0.396:0.4193:0.0:0.1847	.	69	P24864	CCNE1_HUMAN	V	69;69;54	ENSP00000262643:A69V;ENSP00000350625:A69V;ENSP00000410179:A54V	ENSP00000262643:A69V	A	+	2	0	CCNE1	34999909	0.991000	0.36638	0.773000	0.31616	0.507000	0.33981	0.110000	0.15437	-0.228000	0.09869	0.655000	0.94253	GCA			0.458	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438138.1		NM_001238	
ACTN4	81	mdanderson.org	37	19	39191305	39191305	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:39191305G>T	ENST00000252699.2	+	2	304	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ACTN4_ENST00000424234.2_Missense_Mutation_p.E76D|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	76	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACATTGATGAGGACTTCCGAG	0.602																																					p.E76D	Colon(168;199 1940 10254 46213 46384)												.	.			0			c.G228T												142.0	112.0	122.0					19																	39191305		2203	4300	6503	SO:0001583	missense	81	exon2			TGATGAGGACTTC	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.228G>T	19.37:g.39191305G>T	ENSP00000252699:p.Glu76Asp		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_004924	183	0.00	0	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009994	0.54361	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000424234	D;D	0.95238	-3.65;-3.65	4.35	4.35	0.52113	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.52364	1.645	0.30149	N	0.803279	B;B	0.02656	0.0;0.0	B;B	0.15870	0.014;0.006	D	0.84662	0.0707	10	0.46703	T	0.11	.	6.7197	0.23323	0.1947:0.0:0.8053:0.0	.	76;76	E7EV83;O43707	.;ACTN4_HUMAN	D	76	ENSP00000252699:E76D;ENSP00000411187:E76D	ENSP00000252699:E76D	E	+	3	2	ACTN4	43883145	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	0.994000	0.29693	2.426000	0.82243	0.561000	0.74099	GAG			0.602	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268091.1			
CAPN12	147968	broad.mit.edu	37	19	39228218	39228219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:39228218_39228219insG	ENST00000328867.4	-	9	1333_1334	c.1025_1026insC	c.(1024-1026)ccgfs	p.P342fs	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Frame_Shift_Ins_p.P193fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	342	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCAGCACCTCCGGGCTCAGCGA	0.698																																					p.P342fs													.	CAPN12	43		0			c.1026_1027insC																																									SO:0001589	frameshift_variant	147968	exon9			CACCTCCGGGCTC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1026dupC	19.37:g.39228221_39228221dupG	ENSP00000331636:p.Pro342fs		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	161	0.04	6	NM_144691	4	0.00	0		Frame_Shift_Ins	INS	ENST00000328867.4	37	CCDS12519.1																																																																																					0.698	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462151.1			
SUPT5H	6829	broad.mit.edu	37	19	39965024	39965024	+	Silent	SNP	G	G	A	rs376597898		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:39965024G>A	ENST00000599117.1	+	28	3169	c.2802G>A	c.(2800-2802)ccG>ccA	p.P934P	SUPT5H_ENST00000359191.6_Silent_p.P930P|SUPT5H_ENST00000432763.2_Silent_p.P934P|SUPT5H_ENST00000598725.1_Silent_p.P934P|SUPT5H_ENST00000402194.2_Silent_p.P930P			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	934	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCCTACACCGTCGCCCATGG	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P934P													.	SUPT5H	119		0			c.G2802A							G	,,,	1,4405	2.1+/-5.4	0,1,2202	87.0	75.0	79.0		2802,2802,2790,2802	-1.8	0.2	19		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SUPT5H	NM_001111020.2,NM_001130824.1,NM_001130825.1,NM_003169.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	934/1088,934/1088,930/1084,934/1088	39965024	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6829	exon26			TACACCGTCGCCC	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2802G>A	19.37:g.39965024G>A			Somatic	213	0	0	889	WXS	Illumina HiSeq	Phase_I	244	0.02	6	NM_003169	491	0.00	0	O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	CCDS12536.1																																																																																					0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000464918.1		NM_003169	
PLA2G4C	8605	broad.mit.edu	37	19	48607859	48607859	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:48607859G>T	ENST00000599921.1	-	4	600	c.243C>A	c.(241-243)gtC>gtA	p.V81V	PLA2G4C_ENST00000599111.1_Silent_p.V91V|PLA2G4C_ENST00000413144.2_Silent_p.V81V|PLA2G4C_ENST00000354276.3_Silent_p.V81V			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	81	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGGATCCAGAGACCCCTGCGA	0.502																																					p.V91V													.	PLA2G4C	76		0			c.C273A												133.0	118.0	123.0					19																	48607859		2203	4300	6503	SO:0001819	synonymous_variant	8605	exon4			TCCAGAGACCCCT	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.243C>A	19.37:g.48607859G>T			Somatic	121	0.0082644628	1		WXS	Illumina HiSeq	Phase_I	131	0.04	5	NM_001159322	1	0.00	0	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																					0.502	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000465551.1			
NTF4	4909	broad.mit.edu	37	19	49564741	49564741	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:49564741C>T	ENST00000593537.1	-	1	513	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	CTB-60B18.18_ENST00000599209.1_lincRNA|CGB7_ENST00000597853.1_5'Flank|NTF4_ENST00000594938.1_5'Flank|NTF4_ENST00000451356.2_Intron|NTF4_ENST00000301411.3_Missense_Mutation_p.A172T|CTB-60B18.12_ENST00000597865.1_RNA|CGB7_ENST00000356213.4_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	172					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GACTGCTTGGCCTTGCACTCA	0.637																																					p.A172T													.	NTF4	10		0			c.G514A												50.0	44.0	46.0					19																	49564741		2203	4300	6503	SO:0001583	missense	4909	exon2			GCTTGGCCTTGCA		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.514G>A	19.37:g.49564741C>T	ENSP00000469455:p.Ala172Thr		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_I	238	0.03	7	NM_006179	1	0.00	0	Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	1.175	-0.639886	0.03557	.	.	ENSG00000167744	ENST00000301411	T	0.66995	-0.24	3.27	3.27	0.37495	Nerve growth factor-related (5);	0.167912	0.36002	N	0.002844	T	0.31513	0.0799	N	0.01631	-0.79	0.41446	D	0.987952	P	0.34639	0.461	B	0.28849	0.095	T	0.51188	-0.8737	10	0.02654	T	1	-9.5126	14.4638	0.67470	0.0:1.0:0.0:0.0	.	172	P34130	NTF4_HUMAN	T	172	ENSP00000301411:A172T	ENSP00000301411:A172T	A	-	1	0	NTF4	54256553	0.001000	0.12720	1.000000	0.80357	0.538000	0.34931	-0.064000	0.11636	2.150000	0.67090	0.313000	0.20887	GCC			0.637	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466258.1		NM_006179	
TSKS	60385	broad.mit.edu	37	19	50251405	50251405	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:50251405G>A	ENST00000246801.3	-	4	598	c.516C>T	c.(514-516)agC>agT	p.S172S	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	172					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGATTCTCGCTCAGCACAG	0.572																																					p.S172S													.	TSKS	97		0			c.C516T												153.0	129.0	137.0					19																	50251405		2203	4300	6503	SO:0001819	synonymous_variant	60385	exon4			ATTCTCGCTCAGC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.516C>T	19.37:g.50251405G>A			Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	162	0.02	4	NM_021733	1	0.00	0	Q8WXJ0	Silent	SNP	ENST00000246801.3	37	CCDS12780.1																																																																																					0.572	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000465795.1		NM_021733	
ZNF845	91664	hgsc.bcm.edu	37	19	53855197	53855197	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:53855197G>A	ENST00000595091.1	+	5	1488	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	ZNF845_ENST00000458035.1_Missense_Mutation_p.M423I			Q96IR2	ZN845_HUMAN	zinc finger protein 845	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGATGTCATCCCTTG	0.413																																					p.M423I													ZNF845,bladder,carcinoma,+1,3	ZNF845	1	3	0			c.G1269A												45.0	41.0	42.0					19																	53855197		692	1591	2283	SO:0001583	missense	91664	exon4			TCAGATGTCATCC	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1269G>A	19.37:g.53855197G>A	ENSP00000470005:p.Met423Ile		Somatic	145	0.0068965517	1		WXS	Illumina HiSeq	.	119	0.04	5	NM_138374	3	0.00	0		Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	0.459	-0.889779	0.02511	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.34275	1.37	1.9	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.05487	-0.04	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.08249	-1.0731	9	0.34782	T	0.22	.	2.3006	0.04161	0.1137:0.3445:0.3108:0.231	.	423	Q96IR2	ZN845_HUMAN	I	423	ENSP00000388311:M423I	ENSP00000412086:M423I	M	+	3	0	ZNF845	58547009	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.502000	0.00035	-2.361000	0.00609	-0.718000	0.03613	ATG			0.413	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464359.1		XM_039908	
ZNF813	126017	broad.mit.edu	37	19	53995075	53995076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:53995075_53995076insG	ENST00000396403.4	+	4	1717_1718	c.1589_1590insG	c.(1588-1593)aaggttfs	p.V531fs	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAATGTGGCAAGGTTTTTAATC	0.361																																					p.K530fs													.	ZNF813	81		0			c.1589_1590insG																																									SO:0001589	frameshift_variant	126017	exon4			GTGGCAAGGTTTT	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1591dupG	19.37:g.53995077_53995077dupG	ENSP00000379684:p.Val531fs		Somatic	219	0	0		WXS	Illumina HiSeq	Phase_I	221	0.02	4	NM_001004301	4	0.00	0		Frame_Shift_Ins	INS	ENST00000396403.4	37	CCDS46172.1																																																																																					0.361	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350638.1		NM_001004301	
ZNF814	730051	broad.mit.edu	37	19	58385702	58385704	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	ATA	ATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:58385702_58385704delATA	ENST00000435989.2	-	3	1288_1290	c.1054_1056delTAT	c.(1054-1056)tatdel	p.Y352del	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	352					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CTCCACATTCATAATGTTTTTTT	0.374																																					p.352_352del													.	ZNF814	93		0			c.1054_1056del																																									SO:0001651	inframe_deletion	730051	exon3			ACATTCATAATGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1054_1056delTAT	19.37:g.58385702_58385704delATA	ENSP00000410545:p.Tyr352del		Somatic	372	0	0		WXS	Illumina HiSeq	Phase_I	379	0.02	7	NM_001144989	13	0.00	0	A6NF35	In_Frame_Del	DEL	ENST00000435989.2	37	CCDS46212.1																																																																																					0.374	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708	
C2orf50	130813	broad.mit.edu	37	2	11284192	11284193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:11284192_11284193insG	ENST00000381585.3	+	3	726_727	c.444_445insG	c.(445-447)gggfs	p.G149fs	C2orf50_ENST00000405022.3_Frame_Shift_Ins_p.G149fs			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	149										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		TCTTCACAGAAGGGGCCCGGAA	0.604																																					p.E148fs													.	C2orf50	12		0			c.444_445insG																																									SO:0001589	frameshift_variant	130813	exon3			CACAGAAGGGGCC	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.448dupG	2.37:g.11284196_11284196dupG	ENSP00000370997:p.Gly149fs		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	329	0.02	5	NM_182500	15	0.00	0	A8K9W3|D6W503	Frame_Shift_Ins	INS	ENST00000381585.3	37	CCDS1678.1																																																																																					0.604	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239268.1		NM_182500	
GEN1	348654	broad.mit.edu	37	2	17954019	17954019	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:17954019G>T	ENST00000381254.2	+	8	1135	c.921G>T	c.(919-921)agG>agT	p.R307S	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R307S	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	307					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACATGATAGGCAACTCAGTG	0.348								Homologous recombination																													p.R307S													.	GEN1	79		0			c.G921T												83.0	78.0	80.0					2																	17954019		2203	4300	6503	SO:0001583	missense	348654	exon8			TGATAGGCAACTC	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.921G>T	2.37:g.17954019G>T	ENSP00000370653:p.Arg307Ser		Somatic	179	0	0		WXS	Illumina HiSeq	Phase_I	259	0.02	5	NM_182625	1	0.00	0	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721947	0.68959	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.43294	0.95;0.95;0.95	5.63	0.23	0.15372	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.140630	0.45126	D	0.000382	T	0.51839	0.1698	M	0.66939	2.045	0.38267	D	0.942046	D	0.71674	0.998	P	0.61722	0.893	T	0.54159	-0.8335	10	0.72032	D	0.01	-16.0889	7.2031	0.25891	0.3576:0.1113:0.5311:0.0	.	307	Q17RS7	GEN_HUMAN	S	307;307;78	ENSP00000318977:R307S;ENSP00000370653:R307S;ENSP00000431542:R78S	ENSP00000318977:R307S	R	+	3	2	GEN1	17817500	0.982000	0.34865	0.556000	0.28293	0.552000	0.35366	0.146000	0.16180	0.018000	0.15052	0.655000	0.94253	AGG			0.348	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241661.2		NM_182625	
PUM2	23369	broad.mit.edu	37	2	20453737	20453737	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:20453737G>T	ENST00000361078.2	-	19	2937	c.2915C>A	c.(2914-2916)gCt>gAt	p.A972D	PUM2_ENST00000319801.5_Missense_Mutation_p.A893D|PUM2_ENST00000536417.1_Missense_Mutation_p.A914D|PUM2_ENST00000403432.1_Missense_Mutation_p.A970D|PUM2_ENST00000338086.5_Missense_Mutation_p.A970D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	972	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCTCTCAGCACGGGAGGC	0.393																																					p.A970D													.	PUM2	91		0			c.C2909A												145.0	129.0	135.0					2																	20453737		2203	4300	6503	SO:0001583	missense	23369	exon19			CTCTCAGCACGGG	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2915C>A	2.37:g.20453737G>T	ENSP00000354370:p.Ala972Asp		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	106	0.03	3	NM_015317	59	0.00	0	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	G	15.78	2.933429	0.52866	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.056306	0.64402	D	0.000001	T	0.19046	0.0457	L	0.41124	1.26	0.80722	D	1	B;P;B;B	0.40144	0.005;0.704;0.009;0.087	B;P;B;B	0.45377	0.021;0.478;0.026;0.149	T	0.01829	-1.1265	10	0.22109	T	0.4	-9.8985	19.3709	0.94484	0.0:0.0:1.0:0.0	.	914;891;970;972	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	D	970;972;893;782;970;914	ENSP00000338173:A970D;ENSP00000354370:A972D;ENSP00000326746:A893D;ENSP00000409905:A782D;ENSP00000385992:A970D;ENSP00000440093:A914D	ENSP00000326746:A893D	A	-	2	0	PUM2	20317218	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	9.869000	0.99810	2.576000	0.86940	0.655000	0.94253	GCT			0.393	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015317	
APOB	338	broad.mit.edu	37	2	21232321	21232321	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:21232321G>T	ENST00000233242.1	-	26	7546	c.7419C>A	c.(7417-7419)acC>acA	p.T2473T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2473					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGGCCTTGGTTTCCTCTA	0.418																																					p.T2473T													.	APOB	761		0			c.C7419A												176.0	171.0	173.0					2																	21232321		2203	4300	6503	SO:0001819	synonymous_variant	338	exon26			GGCCTTGGTTTCC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7419C>A	2.37:g.21232321G>T			Somatic	164	0.006097561	1		WXS	Illumina HiSeq	Phase_I	206	0.03	6	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																					0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1			
NCOA1	8648	broad.mit.edu	37	2	24952606	24952606	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:24952606G>A	ENST00000406961.1	+	17	3775	c.3123G>A	c.(3121-3123)agG>agA	p.R1041R	NCOA1_ENST00000348332.3_Silent_p.R1041R|NCOA1_ENST00000538539.1_Silent_p.R1041R|NCOA1_ENST00000395856.3_Silent_p.R1041R|NCOA1_ENST00000405141.1_Silent_p.R1041R|NCOA1_ENST00000288599.5_Silent_p.R1041R|NCOA1_ENST00000407230.1_Silent_p.R890R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1041					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGCCCAGGCAAACTCTAA	0.527			T	PAX3	alveolar rhadomyosarcoma																																p.R1041R				Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	NCOA1	210		0			c.G3123A												109.0	110.0	110.0					2																	24952606		2203	4300	6503	SO:0001819	synonymous_variant	8648	exon15			GCCCAGGCAAACT	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3123G>A	2.37:g.24952606G>A			Somatic	173	0.0173410405	3		WXS	Illumina HiSeq	Phase_I	208	0.02	4	NM_147223	8	0.00	0	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	CCDS1712.1																																																																																					0.527	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000246852.3		NM_147223	
IFT172	26160	broad.mit.edu	37	2	27688723	27688723	+	Silent	SNP	G	G	T	rs373009930		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:27688723G>T	ENST00000260570.3	-	17	1822	c.1719C>A	c.(1717-1719)ggC>ggA	p.G573G		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	573					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCTTTCCCCCGCCCCGCTCCA	0.488																																					p.G573G													.	IFT172	119		0			c.C1719A												316.0	311.0	313.0					2																	27688723		2203	4300	6503	SO:0001819	synonymous_variant	26160	exon17			TCCCCCGCCCCGC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1719C>A	2.37:g.27688723G>T			Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	297	0.01	3	NM_015662	4	0.00	0	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																					0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250213.2		NM_015662	
SLC4A1AP	22950	broad.mit.edu	37	2	27908039	27908039	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:27908039G>T	ENST00000326019.6	+	10	2293	c.2011G>T	c.(2011-2013)Gat>Tat	p.D671Y		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	671	Glu-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AAAACTGGAGGATGGAAGCCT	0.458																																					p.D671Y													.	SLC4A1AP	63		0			c.G2011T												79.0	81.0	80.0					2																	27908039		2203	4300	6503	SO:0001583	missense	22950	exon10			CTGGAGGATGGAA		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.2011G>T	2.37:g.27908039G>T	ENSP00000323837:p.Asp671Tyr		Somatic	227	0	0		WXS	Illumina HiSeq	Phase_I	269	0.01	4	NM_018158	126	0.00	0	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144035	0.57044	.	.	ENSG00000163798	ENST00000326019	T	0.39592	1.07	5.38	1.34	0.21922	.	1.245510	0.05336	N	0.529314	T	0.32823	0.0842	L	0.50333	1.59	0.29169	N	0.877267	P	0.44877	0.845	B	0.34722	0.188	T	0.41627	-0.9498	10	0.62326	D	0.03	-1.4004	4.4741	0.11726	0.1482:0.1252:0.598:0.1287	.	671	Q9BWU0	NADAP_HUMAN	Y	671	ENSP00000323837:D671Y	ENSP00000323837:D671Y	D	+	1	0	SLC4A1AP	27761543	0.018000	0.18449	0.973000	0.42090	0.659000	0.38960	0.756000	0.26419	0.739000	0.32628	0.563000	0.77884	GAT			0.458	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324550.1		NM_018158	
CAPN14	440854	broad.mit.edu	37	2	31420142	31420142	+	Missense_Mutation	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:31420142A>G	ENST00000403897.3	-	8	989	c.848T>C	c.(847-849)gTg>gCg	p.V283A	CAPN14_ENST00000444918.2_Missense_Mutation_p.V283A	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	283	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						TTTCCATTCCACCTTTCCCCA	0.512																																					p.V283A													.	CAPN14	36		0			c.T848C												220.0	193.0	201.0					2																	31420142		692	1591	2283	SO:0001583	missense	440854	exon8			CATTCCACCTTTC	AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.848T>C	2.37:g.31420142A>G	ENSP00000385247:p.Val283Ala		Somatic	230	0.0043478261	1		WXS	Illumina HiSeq	Phase_I	275	0.01	3	NM_001145122	0		0	B3KRU9	Missense_Mutation	SNP	ENST00000403897.3	37	CCDS46254.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144761	0.37825	.	.	ENSG00000214711	ENST00000444918;ENST00000403897	D;D	0.88046	-2.33;-2.33	3.29	3.29	0.37713	Peptidase C2, calpain, catalytic domain (3);	0.581708	0.15357	U	0.266619	D	0.84999	0.5597	L	0.47716	1.5	0.22199	N	0.999297	P;P	0.47484	0.896;0.739	P;B	0.49361	0.608;0.34	T	0.74702	-0.3576	10	0.37606	T	0.19	.	7.8159	0.29258	0.8965:0.0:0.1035:0.0	.	283;107	A8MX76;A8MX76-2	CAN14_HUMAN;.	A	283	ENSP00000398670:V283A;ENSP00000385247:V283A	ENSP00000385247:V283A	V	-	2	0	CAPN14	31273646	0.999000	0.42202	0.031000	0.17742	0.306000	0.27790	4.287000	0.59001	1.284000	0.44531	0.379000	0.24179	GTG			0.512	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325010.1		NM_001145122	
THUMPD2	80745	broad.mit.edu	37	2	39998751	39998752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:39998751_39998752insA	ENST00000505747.1	-	2	182_183	c.155_156insT	c.(154-156)ttcfs	p.F52fs	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Frame_Shift_Ins_p.F22fs|THUMPD2_ENST00000454352.2_Frame_Shift_Ins_p.F22fs	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	52							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AACAGGTGGTGAAAAAAACCTT	0.287																																					p.F52fs													.	THUMPD2	35		0			c.156_157insT																																									SO:0001589	frameshift_variant	80745	exon2			GGTGGTGAAAAAA	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.156dupT	2.37:g.39998758_39998758dupA	ENSP00000423933:p.Phe52fs		Somatic	377	0	0		WXS	Illumina HiSeq	Phase_I	466	0.00	0	NM_025264	0		0	A8K7I7|Q53TT8|Q53TV0	Frame_Shift_Ins	INS	ENST00000505747.1	37	CCDS1805.2																																																																																					0.287	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219991.2		NM_025264	
THADA	63892	broad.mit.edu	37	2	43797579	43797579	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:43797579G>T	ENST00000405006.4	-	14	2486	c.2135C>A	c.(2134-2136)cCa>cAa	p.P712Q	THADA_ENST00000415080.2_Missense_Mutation_p.P422Q|THADA_ENST00000405975.2_Missense_Mutation_p.P712Q|THADA_ENST00000330266.7_Missense_Mutation_p.P422Q|THADA_ENST00000403856.1_Missense_Mutation_p.P712Q|THADA_ENST00000402360.2_Missense_Mutation_p.P712Q|THADA_ENST00000404790.1_Missense_Mutation_p.P712Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	712										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTCATTCTCTGGTTCACGTTT	0.333																																					p.P712Q													.	THADA	131		0			c.C2135A												160.0	148.0	152.0					2																	43797579		1824	4091	5915	SO:0001583	missense	63892	exon14			TTCTCTGGTTCAC	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2135C>A	2.37:g.43797579G>T	ENSP00000385995:p.Pro712Gln		Somatic	223	0.0179372197	4		WXS	Illumina HiSeq	Phase_I	301	0.02	6	NM_001083953	4	0.00	0	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.468|0.468	-0.885708|-0.885708	0.02511|0.02511	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856|ENST00000407351	T;T;T;T;T;T;T|.	0.64803|.	1.35;2.77;2.6;2.77;-0.12;-0.12;1.45|.	5.41|5.41	2.44|2.44	0.29823|0.29823	Armadillo-type fold (1);|.	0.555573|.	0.17691|.	N|.	0.165266|.	T|T	0.27798|0.27798	0.0684|0.0684	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	D;P;B;B;P|.	0.59357|.	0.985;0.859;0.009;0.009;0.779|.	P;B;B;B;B|.	0.51385|.	0.668;0.387;0.022;0.005;0.216|.	T|T	0.26360|0.26360	-1.0105|-1.0105	10|5	0.39692|.	T|.	0.17|.	-6.8213|-6.8213	0.581|0.581	0.00712|0.00712	0.2729:0.1809:0.3609:0.1854|0.2729:0.1809:0.3609:0.1854	.|.	712;712;712;422;712|.	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6|.	.;.;.;.;THADA_HUMAN|.	Q|K	422;712;713;422;712;712;712;712|26	ENSP00000331105:P422Q;ENSP00000386088:P712Q;ENSP00000416048:P422Q;ENSP00000385995:P712Q;ENSP00000385441:P712Q;ENSP00000384266:P712Q;ENSP00000385469:P712Q|.	ENSP00000331105:P422Q|.	P|Q	-|-	2|1	0|0	THADA|THADA	43651083|43651083	0.098000|0.098000	0.21812|0.21812	0.065000|0.065000	0.19835|0.19835	0.004000|0.004000	0.04260|0.04260	1.892000|1.892000	0.39748|0.39748	0.647000|0.647000	0.30713|0.30713	-0.274000|-0.274000	0.10170|0.10170	CCA|CAG			0.333	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326070.3		NM_022065	
EPAS1	2034	broad.mit.edu	37	2	46596999	46596999	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:46596999G>T	ENST00000263734.3	+	7	1323	c.813G>T	c.(811-813)gaG>gaT	p.E271D		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	271	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCCTGAGGAGCTGCTTGGCC	0.488																																					p.E271D													.	EPAS1	83		0			c.G813T												58.0	51.0	54.0					2																	46596999		2203	4300	6503	SO:0001583	missense	2034	exon7			TGAGGAGCTGCTT	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.813G>T	2.37:g.46596999G>T	ENSP00000263734:p.Glu271Asp		Somatic	165	0	0		WXS	Illumina HiSeq	Phase_I	264	0.02	4	NM_001430	9	0.00	0	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668861	0.14776	.	.	ENSG00000116016	ENST00000263734	T	0.19105	2.17	5.65	4.78	0.61160	PAS fold-3 (1);PAS (3);	0.049764	0.85682	D	0.000000	T	0.13329	0.0323	N	0.20445	0.575	0.50467	D	0.999878	B	0.06786	0.001	B	0.08055	0.003	T	0.06023	-1.0850	10	0.09084	T	0.74	.	14.7969	0.69884	0.0692:0.0:0.9308:0.0	.	271	Q99814	EPAS1_HUMAN	D	271	ENSP00000263734:E271D	ENSP00000263734:E271D	E	+	3	2	EPAS1	46450503	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.726000	0.25984	1.392000	0.46585	-0.137000	0.14449	GAG			0.488	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250752.2		NM_001430	
NRXN1	9378	broad.mit.edu	37	2	50724692	50724692	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:50724692G>A	ENST00000406316.2	-	14	4134	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G	NRXN1_ENST00000404971.1_Silent_p.G926G|NRXN1_ENST00000406859.3_Silent_p.G886G|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.G878G|NRXN1_ENST00000401669.2_Silent_p.G886G|NRXN1_ENST00000402717.3_Silent_p.G878G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	886	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATCTATGTCGCCATTTTTAC	0.438																																					p.G926G													.	NRXN1	1118		0			c.C2778T												118.0	108.0	111.0					2																	50724692		1988	4169	6157	SO:0001819	synonymous_variant	9378	exon15			TATGTCGCCATTT	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2658C>T	2.37:g.50724692G>A			Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	157	0.03	5	NM_001135659	0		0	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																					0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000325291.2			
VRK2	7444	broad.mit.edu	37	2	58386754	58386754	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:58386754G>T	ENST00000435505.2	+	16	2198	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	VRK2_ENST00000412104.2_3'UTR|VRK2_ENST00000417641.2_3'UTR|FANCL_ENST00000233741.4_3'UTR|VRK2_ENST00000340157.4_Missense_Mutation_p.A485S|FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000440705.2_Missense_Mutation_p.A462S|FANCL_ENST00000403295.3_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	485	Interaction with MAP3K7.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AGAGACAAACGCAGATGTTTA	0.358																																					p.A485S													.	VRK2	46		0			c.G1453T												153.0	155.0	154.0					2																	58386754		2203	4300	6503	SO:0001583	missense	7444	exon13			ACAAACGCAGATG	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1453G>T	2.37:g.58386754G>T	ENSP00000408002:p.Ala485Ser		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	156	0.03	4	NM_001130480	194	0.00	0	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	7.257	0.604451	0.14002	.	.	ENSG00000028116	ENST00000435505;ENST00000340157;ENST00000440705	T;T;T	0.08193	3.12;3.12;3.13	6.03	-1.76	0.08006	.	0.774396	0.12097	N	0.499820	T	0.07503	0.0189	L	0.58101	1.795	0.09310	N	0.999998	B	0.14438	0.01	B	0.13407	0.009	T	0.36040	-0.9764	10	0.48119	T	0.1	-0.2122	1.9405	0.03345	0.2698:0.1:0.4261:0.2041	.	485	Q86Y07	VRK2_HUMAN	S	485;485;462	ENSP00000408002:A485S;ENSP00000342381:A485S;ENSP00000398323:A462S	ENSP00000342381:A485S	A	+	1	0	VRK2	58240258	0.335000	0.24748	0.000000	0.03702	0.017000	0.09413	-0.040000	0.12104	-1.038000	0.03279	-2.696000	0.00138	GCA			0.358	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325304.2		NM_006296	
VPS54	51542	broad.mit.edu	37	2	64193029	64193029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:64193029delA	ENST00000272322.4	-	6	718	c.564delT	c.(562-564)tttfs	p.F188fs	VPS54_ENST00000354504.3_Frame_Shift_Del_p.F71fs|VPS54_ENST00000409558.4_Frame_Shift_Del_p.F176fs			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	188					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CAGCAGTATTAAAATGAGACC	0.318																																					p.F188fs													.	VPS54	57		0			c.564delT												59.0	64.0	63.0					2																	64193029		2203	4300	6503	SO:0001589	frameshift_variant	51542	exon6			AGTATTAAAATGA	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.564delT	2.37:g.64193029delA	ENSP00000272322:p.Phe188fs		Somatic	412	0	0		WXS	Illumina HiSeq	Phase_I	639	0.01	5	NM_016516	7	0.00	0	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Frame_Shift_Del	DEL	ENST00000272322.4	37	CCDS33208.1																																																																																					0.318	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327062.2		NM_016516	
VAX2	25806	broad.mit.edu	37	2	71148283	71148283	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:71148283G>T	ENST00000234392.2	+	2	335	c.303G>T	c.(301-303)cgG>cgT	p.R101R		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	101					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						ACCTGGACCGGCCCAAGCGGA	0.592																																					p.R101R													.	VAX2	27		0			c.G303T												44.0	41.0	42.0					2																	71148283		2203	4300	6503	SO:0001819	synonymous_variant	25806	exon2			GGACCGGCCCAAG	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.303G>T	2.37:g.71148283G>T			Somatic	220	0.0045454545	1		WXS	Illumina HiSeq	Phase_I	308	0.01	3	NM_012476	0		0	Q53Y33	Silent	SNP	ENST00000234392.2	37	CCDS1911.1																																																																																					0.592	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251923.1			
ATP6V1B1	525	broad.mit.edu	37	2	71190761	71190761	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:71190761G>T	ENST00000234396.4	+	11	1193	c.1120G>T	c.(1120-1122)Gac>Tac	p.D374Y	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.D357Y|AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	374					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GATCTACGTGGACAGACAGCT	0.552																																					p.D374Y													.	ATP6V1B1	66		0			c.G1120T												170.0	124.0	139.0					2																	71190761		2203	4300	6503	SO:0001583	missense	525	exon11			TACGTGGACAGAC	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1120G>T	2.37:g.71190761G>T	ENSP00000234396:p.Asp374Tyr		Somatic	221	0.0090497738	2		WXS	Illumina HiSeq	Phase_I	333	0.02	6	NM_001692	0		0	Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327316	0.81690	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	D;D	0.83075	-1.68;-1.68	4.73	4.73	0.59995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.93465	0.7915	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.986;0.995;0.988	D	0.95161	0.8281	10	0.87932	D	0	-1.8848	15.2381	0.73447	0.0:0.0:1.0:0.0	.	349;357;374	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	Y	374;349;357	ENSP00000234396:D374Y;ENSP00000388353:D357Y	ENSP00000234396:D374Y	D	+	1	0	ATP6V1B1	71044269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.603000	0.98315	2.470000	0.83445	0.655000	0.94253	GAC			0.552	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251920.2		NM_001692	
ALMS1	7840	broad.mit.edu	37	2	73676896	73676896	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:73676896G>T	ENST00000264448.6	+	8	3350	c.3239G>T	c.(3238-3240)gGa>gTa	p.G1080V	ALMS1_ENST00000377715.1_Missense_Mutation_p.G1080V|ALMS1_ENST00000409009.1_Missense_Mutation_p.G1038V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1080	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCTTCCCTGGACCAGCTGAC	0.478																																					p.G1080V													.	ALMS1	384		0			c.G3239T												105.0	109.0	108.0					2																	73676896		1932	4130	6062	SO:0001583	missense	7840	exon8			TCCCTGGACCAGC	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3239G>T	2.37:g.73676896G>T	ENSP00000264448:p.Gly1080Val		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	253	0.02	4	NM_015120	2	0.00	0	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891197	0.33442	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19532	3.02;3.02;2.14	4.39	-0.926	0.10455	.	1.379630	0.04679	N	0.412052	T	0.35307	0.0927	L	0.52905	1.665	0.09310	N	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.982;0.984;0.967	T	0.21348	-1.0248	10	0.39692	T	0.17	.	3.0627	0.06204	0.278:0.0:0.4014:0.3206	.	1080;1038;1080	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1038;1080;1080	ENSP00000386627:G1038V;ENSP00000264448:G1080V;ENSP00000366944:G1080V	ENSP00000264448:G1080V	G	+	2	0	ALMS1	73530404	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.246000	0.08878	-0.174000	0.10743	0.591000	0.81541	GGA			0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000327776.1		NM_015120	
WDR54	84058	broad.mit.edu	37	2	74649360	74649360	+	Missense_Mutation	SNP	C	C	T	rs138696895	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:74649360C>T	ENST00000348227.4	+	2	168	c.80C>T	c.(79-81)cCg>cTg	p.P27L	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	27										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTGCAGCTGCCGGCTCGCAAC	0.662																																					p.P27L													.	WDR54	17		0			c.C80T												53.0	52.0	52.0					2																	74649360		2203	4300	6503	SO:0001583	missense	84058	exon2			AGCTGCCGGCTCG	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.80C>T	2.37:g.74649360C>T	ENSP00000006526:p.Pro27Leu		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	199	0.03	5	NM_032118	96	0.01	1	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074490	0.76415	.	.	ENSG00000005448	ENST00000426787;ENST00000348227	.	.	.	5.37	5.37	0.77165	.	0.060557	0.64402	D	0.000002	T	0.40546	0.1121	L	0.29908	0.895	0.58432	D	0.999999	D	0.54772	0.968	B	0.38156	0.266	T	0.43877	-0.9364	9	0.51188	T	0.08	-21.2632	16.0149	0.80430	0.0:1.0:0.0:0.0	.	27	Q9H977	WDR54_HUMAN	L	27	.	ENSP00000006526:P27L	P	+	2	0	WDR54	74502868	0.998000	0.40836	0.663000	0.29738	0.982000	0.71751	4.527000	0.60573	2.518000	0.84900	0.511000	0.50034	CCG			0.662	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252213.1		NM_032118	
GCFC2	6936	broad.mit.edu;mdanderson.org	37	2	75937788	75937788	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:75937788C>T	ENST00000321027.3	-	1	327	c.194G>A	c.(193-195)cGt>cAt	p.R65H	GCFC2_ENST00000541687.1_Missense_Mutation_p.R65H|GCFC2_ENST00000409857.3_Missense_Mutation_p.R65H|GCFC2_ENST00000470503.1_Missense_Mutation_p.R65H	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	65					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										GCCCCGGCCACGAGGGCCCCG	0.756																																					p.R65H													.	.			0			c.G194A												2.0	3.0	2.0					2																	75937788		1525	3387	4912	SO:0001583	missense	6936	exon1			CGGCCACGAGGGC	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.194G>A	2.37:g.75937788C>T	ENSP00000318690:p.Arg65His		Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	13	0.15	2	NM_001201335	6	0.00	0	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888979	0.72524	.	.	ENSG00000005436	ENST00000321027;ENST00000541687;ENST00000409857;ENST00000442309	T;T;T;T	0.43688	1.95;0.94;1.83;1.07	3.16	3.16	0.36331	.	0.880319	0.09698	N	0.767361	T	0.57607	0.2065	M	0.64997	1.995	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.96;0.98	T	0.43081	-0.9413	10	0.24483	T	0.36	-3.0871	10.055	0.42239	0.0:1.0:0.0:0.0	.	65;65	A4UHQ8;P16383	.;GCF_HUMAN	H	65	ENSP00000318690:R65H;ENSP00000437767:R65H;ENSP00000386552:R65H;ENSP00000415831:R65H	ENSP00000318690:R65H	R	-	2	0	C2orf3	75791296	0.975000	0.34042	0.174000	0.22961	0.004000	0.04260	1.480000	0.35464	2.104000	0.64026	0.555000	0.69702	CGT			0.756	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252255.2		NM_003203	
USP39	10713	broad.mit.edu	37	2	85843583	85843583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:85843583C>T	ENST00000323701.6	+	1	275	c.265C>T	c.(265-267)Cga>Tga	p.R89*	USP39_ENST00000459775.1_Intron|USP39_ENST00000450066.2_Intron|USP39_ENST00000409766.3_Nonsense_Mutation_p.R89*|USP39_ENST00000409025.1_Nonsense_Mutation_p.R89*|USP39_ENST00000409470.1_Nonsense_Mutation_p.R89*	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	89	Arg-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCGGGAGGTGCGAGGTGCGCG	0.667																																					p.R89X													.	USP39	33		0			c.C265T												6.0	8.0	8.0					2																	85843583		1948	4019	5967	SO:0001587	stop_gained	10713	exon1			GAGGTGCGAGGTG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.265C>T	2.37:g.85843583C>T	ENSP00000312981:p.Arg89*		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	229	0.01	3	NM_001256725	58	0.00	0	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Nonsense_Mutation	SNP	ENST00000323701.6	37	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	C	37	6.485059	0.97603	.	.	ENSG00000168883	ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	.	.	.	5.1	5.1	0.69264	.	0.452154	0.22107	N	0.064539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-5.6308	13.8872	0.63714	0.0:1.0:0.0:0.0	.	.	.	.	X	89	.	ENSP00000312981:R89X	R	+	1	2	USP39	85697094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.371000	0.34250	2.664000	0.90586	0.561000	0.74099	CGA			0.667	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329892.1		NM_006590	
IGKV3-7	28915	broad.mit.edu	37	2	89278486	89278486	+	RNA	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:89278486C>A	ENST00000390247.2	-	0	114									immunoglobulin kappa variable 3-7 (non-functional)																		GGAAGAGAAGCTGAGCTGGGG	0.552																																					.													.	.			0			.												76.0	83.0	81.0					2																	89278486		1830	4090	5920			0	.			GAGAAGCTGAGCT	X02725		2p11.2	2012-02-08	2008-09-10		ENSG00000243063	ENSG00000243063		"""Immunoglobulins / IGK locus"""	5821	other	immunoglobulin gene			"""immunoglobulin kappa variable 3-7"""				Standard	NG_000834		Approved				OTTHUMG00000151636		2.37:g.89278486C>A			Somatic	357	0.0056022409	2		WXS	Illumina HiSeq	Phase_I	451	0.02	10	.	1	0.00	0		RNA	SNP	ENST00000390247.2	37																																																																																						0.552	IGKV3-7-001	KNOWN	non_canonical_polymorphism|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene		OTTHUMT00000323360.1		NG_000834	
MRPS5	64969	broad.mit.edu	37	2	95780894	95780894	+	Missense_Mutation	SNP	C	C	T	rs201430985		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:95780894C>T	ENST00000272418.2	-	3	402	c.194G>A	c.(193-195)cGt>cAt	p.R65H	MRPS5_ENST00000475040.1_5'UTR	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	65					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTGCAGTGCACGGCTCAAGCT	0.468											OREG0014795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R65H													.	MRPS5	52		0			c.G194A												169.0	151.0	158.0					2																	95780894		2203	4300	6503	SO:0001583	missense	64969	exon3			AGTGCACGGCTCA	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.194G>A	2.37:g.95780894C>T	ENSP00000272418:p.Arg65His		Somatic	196	0.0051020408	1	1315	WXS	Illumina HiSeq	Phase_I	251	0.02	5	NM_031902	257	0.00	0	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	8.504	0.865023	0.17250	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	-10.2	0.00374	.	0.736452	0.13333	N	0.395764	T	0.10078	0.0247	N	0.03177	-0.4	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.29852	-0.9998	9	0.12430	T	0.62	0.1042	8.8951	0.35458	0.0:0.518:0.2488:0.2332	.	65;65	B4DIW8;P82675	.;RT05_HUMAN	H	65	.	ENSP00000272418:R65H	R	-	2	0	MRPS5	95144621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.313000	0.02718	-1.622000	0.01560	-1.264000	0.01445	CGT			0.468	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252772.1		NM_031902	
FAHD2A	51011	broad.mit.edu	37	2	96078220	96078220	+	Nonsense_Mutation	SNP	G	G	T	rs376463411		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:96078220G>T	ENST00000233379.4	+	6	877	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	FAHD2A_ENST00000447036.1_Nonsense_Mutation_p.E242*	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	242							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						AGTGAATGGGGAAGTGGTCCA	0.522																																					p.E242X													.	FAHD2A	25		0			c.G724T												113.0	110.0	111.0					2																	96078220		2203	4300	6503	SO:0001587	stop_gained	51011	exon6			AATGGGGAAGTGG	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.724G>T	2.37:g.96078220G>T	ENSP00000233379:p.Glu242*		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_I	212	0.02	4	NM_016044	223	0.00	0	Q9Y3B0	Nonsense_Mutation	SNP	ENST00000233379.4	37	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687741	0.88639	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	.	.	.	3.38	3.38	0.38709	.	0.289894	0.32640	N	0.005826	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	12.5845	0.56410	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000233379:E242X	E	+	1	0	FAHD2A	95441947	1.000000	0.71417	0.961000	0.40146	0.915000	0.54546	3.955000	0.56715	1.876000	0.54355	0.491000	0.48974	GAA			0.522	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252778.1		NM_016044	
SNRNP200	23020	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	96940775	96940775	+	Missense_Mutation	SNP	G	G	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:96940775G>C	ENST00000323853.5	-	45	6463	c.6386C>G	c.(6385-6387)gCt>gGt	p.A2129G	SNRNP200_ENST00000349783.5_Missense_Mutation_p.A618G	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2129					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTCTGTCTCAGCTTCTTTCAC	0.468																																					p.A2129G													.	SNRNP200	195		0			c.C6386G												176.0	160.0	165.0					2																	96940775		2203	4300	6503	SO:0001583	missense	23020	exon45			GTCTCAGCTTCTT	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.6386C>G	2.37:g.96940775G>C	ENSP00000317123:p.Ala2129Gly		Somatic	108	0.0092592593	1		WXS	Illumina HiSeq	Phase_I	146	0.32	46	NM_014014	1175	0.03	41	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	9.620	1.133558	0.21041	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000536601;ENST00000543553	T;T	0.68331	-0.32;1.47	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	L	0.28400	0.85	0.36555	D	0.872088	B	0.02656	0.0	B	0.01281	0.0	T	0.51919	-0.8644	10	0.02654	T	1	-11.397	16.5621	0.84569	0.0:0.0:1.0:0.0	.	2129	O75643	U520_HUMAN	G	2129;618;588;712	ENSP00000317123:A2129G;ENSP00000326937:A618G	ENSP00000317123:A2129G	A	-	2	0	SNRNP200	96304502	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.525000	0.98039	2.489000	0.83994	0.650000	0.86243	GCT			0.468	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252846.2		NM_014014	
RPL31	6160	broad.mit.edu	37	2	101619185	101619185	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:101619185G>T	ENST00000264258.3	+	2	623	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C	RPL31_ENST00000409038.1_Missense_Mutation_p.G8C|RPL31_ENST00000409733.1_Missense_Mutation_p.G8C|RPL31_ENST00000409711.1_Missense_Mutation_p.G8C|RPL31_ENST00000409000.1_Missense_Mutation_p.G8C|RPL31_ENST00000409028.4_Missense_Mutation_p.G8C|RPL31_ENST00000409650.1_Missense_Mutation_p.G8C|AC016738.4_ENST00000452364.1_RNA|RPL31_ENST00000409320.3_Missense_Mutation_p.G8C	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AAAGAAGGGTGGCGAGAAGAA	0.527																																					p.G8C													.	RPL31	12		0			c.G22T												63.0	60.0	61.0					2																	101619185		2203	4300	6503	SO:0001583	missense	6160	exon2			AAGGGTGGCGAGA	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.22G>T	2.37:g.101619185G>T	ENSP00000264258:p.Gly8Cys		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	272	0.03	7	NM_001098577	19778	0.00	12	B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	CCDS2049.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389871	0.82902	.	.	ENSG00000071082	ENST00000264258;ENST00000409000;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292;ENST00000409711	.	.	.	5.38	4.5	0.54988	.	0.143974	0.44483	U	0.000448	T	0.82089	0.4961	M	0.92555	3.32	0.36426	D	0.864608	D;D;D;D;D;D	0.76494	0.99;0.97;0.999;0.982;0.989;0.998	D;P;D;P;P;D	0.70227	0.968;0.554;0.954;0.895;0.841;0.968	D	0.88923	0.3367	9	0.87932	D	0	.	12.345	0.55116	0.1399:0.0:0.8601:0.0	.	8;8;8;8;8;8	B7Z4E3;B7Z4C8;B7Z4K2;B8ZZK4;Q6IRZ0;P62899	.;.;.;.;.;RL31_HUMAN	C	8	.	ENSP00000264258:G8C	G	+	1	0	RPL31	100985617	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.325000	0.65869	1.498000	0.48600	0.655000	0.94253	GGC			0.527	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253182.3		NM_001098577	
FBLN7	129804	broad.mit.edu	37	2	112922735	112922735	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:112922735G>T	ENST00000331203.2	+	3	664	c.393G>T	c.(391-393)caG>caT	p.Q131H	FBLN7_ENST00000409450.3_Missense_Mutation_p.Q131H|FBLN7_ENST00000409903.1_Missense_Mutation_p.Q131H|FBLN7_ENST00000409667.3_Missense_Mutation_p.Q131H|FBLN7_ENST00000472377.1_3'UTR	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	131	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGGGAGCAGCCCCACTGTA	0.562																																					p.Q131H													.	FBLN7	49		0			c.G393T												83.0	76.0	78.0					2																	112922735		2203	4300	6503	SO:0001583	missense	129804	exon3			GGAGCAGCCCCAC		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.393G>T	2.37:g.112922735G>T	ENSP00000331411:p.Gln131His		Somatic	191	0	0		WXS	Illumina HiSeq	Phase_I	260	0.02	4	NM_153214	3	0.00	0	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501186	0.44455	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450	T;T;D;T	0.81996	-0.17;-0.17;-1.56;-0.17	5.36	3.21	0.36854	Complement control module (2);Sushi/SCR/CCP (3);	0.437967	0.25572	N	0.029749	D	0.84719	0.5534	M	0.80616	2.505	0.30296	N	0.789958	P;P;P;P	0.52577	0.856;0.697;0.858;0.954	B;B;P;P	0.51355	0.346;0.232;0.667;0.663	T	0.80741	-0.1247	10	0.37606	T	0.19	-9.8659	6.2828	0.21017	0.1852:0.2564:0.5584:0.0	.	131;131;131;131	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	H	131	ENSP00000331411:Q131H;ENSP00000386295:Q131H;ENSP00000386822:Q131H;ENSP00000387000:Q131H	ENSP00000331411:Q131H	Q	+	3	2	FBLN7	112639206	0.682000	0.27624	1.000000	0.80357	0.988000	0.76386	0.345000	0.19979	1.269000	0.44280	0.655000	0.94253	CAG			0.562	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330505.1		NM_153214	
PSD4	23550	broad.mit.edu	37	2	113953723	113953723	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:113953723G>T	ENST00000245796.6	+	12	2420		c.e12-1		PSD4_ENST00000441564.3_Splice_Site	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGATGTTCAGGGATGAAGAA	0.552																																					.													.	PSD4	74		0			c.2226-1G>T												82.0	76.0	78.0					2																	113953723		2203	4300	6503	SO:0001630	splice_region_variant	23550	exon12			TGTTCAGGGATGA	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2226-1G>T	2.37:g.113953723G>T			Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	315	0.01	3	NM_012455	0		0	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Splice_Site	SNP	ENST00000245796.6	37	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145839	0.57044	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5377	0.84377	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSD4	113670194	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.359000	0.73060	2.526000	0.85167	0.655000	0.94253	.			0.552	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330789.1		NM_012455	Intron
POTEE	445582	broad.mit.edu	37	2	131981234	131981234	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:131981234G>A	ENST00000356920.5	+	2	681	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R196Q|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	196					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CTGGACAGACGATGTCAACTT	0.413																																					p.R196Q													.	.			0			c.G587A												1.0	1.0	1.0					2																	131981234		750	1838	2588	SO:0001583	missense	445582	exon2			ACAGACGATGTCA	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.587G>A	2.37:g.131981234G>A	ENSP00000439189:p.Arg196Gln		Somatic	409	0.0048899756	2		WXS	Illumina HiSeq	Phase_I	591	0.02	10	NM_001083538	0		0	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163504	0.38217	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;D	0.82803	0.68;-1.65	1.16	-0.347	0.12617	Ankyrin repeat-containing domain (3);	0.674489	0.12697	N	0.446625	T	0.67859	0.2938	L	0.29908	0.895	0.22112	N	0.999354	B	0.14805	0.011	B	0.01281	0.0	T	0.53479	-0.8433	10	0.40728	T	0.16	.	3.1756	0.06567	0.7273:0.0:0.2727:0.0	.	196	Q6S8J3	POTEE_HUMAN	Q	196	ENSP00000439189:R196Q;ENSP00000443049:R196Q	ENSP00000439189:R196Q	R	+	2	0	AC131180.1	131697704	0.995000	0.38212	0.001000	0.08648	0.332000	0.28634	1.260000	0.32968	-0.035000	0.13691	-1.252000	0.01501	CGA			0.413	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001083538	
ANKRD30BL	554226	broad.mit.edu	37	2	132905710	132905710	+	Silent	SNP	A	A	G	rs16848774	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:132905710A>G	ENST00000409867.1	-	6	1020	c.771T>C	c.(769-771)gaT>gaC	p.D257D	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	257										endometrium(1)|kidney(3)	4						TATCCTATTCATCAGGTGTTC	0.438																																					.													.	ANKRD30BL	36		0			.																																									SO:0001819	synonymous_variant	554226	.			CTATTCATCAGGT			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.771T>C	2.37:g.132905710A>G			Somatic	790	0.0012658228	1		WXS	Illumina HiSeq	Phase_I	777	0.01	4	.	0		0	B8ZZL7	Silent	SNP	ENST00000409867.1	37																																																																																						0.438	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000331353.2		NR_027019	
UBXN4	23190	broad.mit.edu	37	2	136537757	136537757	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:136537757G>T	ENST00000272638.9	+	12	1501	c.1190G>T	c.(1189-1191)gGa>gTa	p.G397V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	397					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTCTAGGCAGGAAGACCAACT	0.423																																					p.G397V													.	UBXN4	54		0			c.G1190T												139.0	126.0	130.0					2																	136537757		1892	4129	6021	SO:0001583	missense	23190	exon12			AGGCAGGAAGACC	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1190G>T	2.37:g.136537757G>T	ENSP00000272638:p.Gly397Val		Somatic	170	0.0058823529	1		WXS	Illumina HiSeq	Phase_I	174	0.02	3	NM_014607	56	0.00	0	A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444409	0.83993	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.47869	0.83	4.88	4.88	0.63580	.	0.106962	0.64402	D	0.000004	T	0.66848	0.2831	M	0.75447	2.3	0.80722	D	1	D	0.65815	0.995	D	0.66602	0.945	T	0.63629	-0.6594	10	0.25751	T	0.34	.	18.2266	0.89918	0.0:0.0:1.0:0.0	.	397	Q92575	UBXN4_HUMAN	V	397;379	ENSP00000272638:G397V	ENSP00000272638:G397V	G	+	2	0	UBXN4	136254227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.225000	0.72271	2.545000	0.85829	0.555000	0.69702	GGA			0.423	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331696.1		NM_014607	
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	141294207	141294207	+	Missense_Mutation	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:141294207T>C	ENST00000389484.3	-	46	8556	c.7585A>G	c.(7585-7587)Acc>Gcc	p.T2529A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2529	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCACAGGTGAGCTGGTAG	0.383										TSP Lung(27;0.18)																											p.T2529A	Colon(99;50 2074 2507 20106)												LRP1B,NS,carcinoma,+2,1	LRP1B	2	1	0			c.A7585G												133.0	129.0	130.0					2																	141294207		2203	4300	6503	SO:0001583	missense	53353	exon46			CACAGGTGAGCTG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7585A>G	2.37:g.141294207T>C	ENSP00000374135:p.Thr2529Ala		Somatic	288	0	0		WXS	Illumina HiSeq	.	281	0.37	105	NM_018557	0		0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345429	0.82022	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95205	-3.64	5.19	5.19	0.71726	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	L	0.37750	1.13	0.45239	D	0.99824	P	0.40660	0.726	B	0.42138	0.377	D	0.88507	0.3086	10	0.24483	T	0.36	.	10.8882	0.46978	0.1407:0.0:0.0:0.8593	.	2529	Q9NZR2	LRP1B_HUMAN	A	2529;2467	ENSP00000374135:T2529A	ENSP00000374135:T2529A	T	-	1	0	LRP1B	141010677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.114000	0.71560	1.967000	0.57214	0.528000	0.53228	ACC			0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254736.2		NM_018557	
PKP4	8502	mdanderson.org	37	2	159499039	159499039	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:159499039G>T	ENST00000389759.3	+	11	1849	c.1737G>T	c.(1735-1737)ctG>ctT	p.L579L	PKP4_ENST00000389757.3_Silent_p.L579L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	579					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTGACCTTCTGGACCACAGAG	0.398										HNSCC(62;0.18)																											p.L579L													.	.			0			c.G1737T												124.0	126.0	126.0					2																	159499039		2203	4300	6503	SO:0001819	synonymous_variant	8502	exon11			CCTTCTGGACCAC	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1737G>T	2.37:g.159499039G>T			Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	113	0.04	5	NM_001005476	13	0.00	0	Q86W91	Silent	SNP	ENST00000389759.3	37	CCDS33305.1																																																																																					0.398	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333250.1			
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	170096096	170096096	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:170096096C>T	ENST00000263816.3	-	26	4520	c.4235G>A	c.(4234-4236)cGg>cAg	p.R1412Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1412	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACACGAGCACCGGAAAGAACC	0.428																																					p.R1412Q													LRP2,colon,carcinoma,-1,1	LRP2	-1	1	0			c.G4235A												144.0	132.0	136.0					2																	170096096		2203	4300	6503	SO:0001583	missense	4036	exon26			GAGCACCGGAAAG		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4235G>A	2.37:g.170096096C>T	ENSP00000263816:p.Arg1412Gln		Somatic	279	0	0		WXS	Illumina HiSeq	.	312	0.10	31	NM_004525	0		0	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277577	0.80580	.	.	ENSG00000081479	ENST00000263816	D	0.86865	-2.18	5.54	5.54	0.83059	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	N	0.11651	0.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86707	0.1933	10	0.27082	T	0.32	.	19.4777	0.94995	0.0:1.0:0.0:0.0	.	1412	P98164	LRP2_HUMAN	Q	1412	ENSP00000263816:R1412Q	ENSP00000263816:R1412Q	R	-	2	0	LRP2	169804342	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.770000	0.85390	2.592000	0.87571	0.650000	0.86243	CGG			0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255231.2		NM_004525	
TTN	7273	broad.mit.edu	37	2	179430994	179430994	+	Missense_Mutation	SNP	G	G	T	rs532706350		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:179430994G>T	ENST00000591111.1	-	276	75166	c.74942C>A	c.(74941-74943)cCt>cAt	p.P24981H	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P26622H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17682H|TTN_ENST00000460472.2_Missense_Mutation_p.P17557H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24054H|TTN_ENST00000342175.6_Missense_Mutation_p.P17749H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24981	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGATCTCAGGCGTTGGACG	0.418																																					p.P26622H													.	TTN	18412		0			c.C79865A												157.0	152.0	153.0					2																	179430994		1916	4145	6061	SO:0001583	missense	7273	exon326			ATCTCAGGCGTTG	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.74942C>A	2.37:g.179430994G>T	ENSP00000465570:p.Pro24981His		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	183	0.02	4	NM_001267550	0		0	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	14.13	2.442139	0.43326	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.91	5.91	0.95273	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);	.	.	.	.	D	0.92964	0.7761	H	0.99117	4.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95263	0.8370	9	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	17557;17682;17749;24981	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24054;17557;17749;17682;17555	ENSP00000343764:P24054H;ENSP00000434586:P17557H;ENSP00000340554:P17749H;ENSP00000352154:P17682H	ENSP00000340554:P17749H	P	-	2	0	TTN	179139240	1.000000	0.71417	0.951000	0.38953	0.989000	0.77384	9.807000	0.99171	2.809000	0.96659	0.555000	0.69702	CCT			0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179843270	179843270	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:179843270G>T	ENST00000409284.1	-	3	475	c.358C>A	c.(358-360)Ctt>Att	p.L120I	CCDC141_ENST00000420890.2_Missense_Mutation_p.L120I			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	120										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTCTTTCAAGCATGGACACC	0.463																																					p.L120I													.	CCDC141	362		0			c.C358A																																									SO:0001583	missense	285025	exon3			TTTCAAGCATGGA	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.358C>A	2.37:g.179843270G>T	ENSP00000386503:p.Leu120Ile		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	148	0.03	4	NM_173648	3	0.00	0	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000409284.1	37		.	.	.	.	.	.	.	.	.	.	G	19.40	3.819584	0.71028	.	.	ENSG00000163492	ENST00000420890;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.92	5.92	0.95590	.	.	.	.	.	T	0.65133	0.2662	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62695	-0.6800	8	.	.	.	.	13.9323	0.64003	0.0775:0.0:0.9225:0.0	.	120	B8ZZB3	.	I	120	ENSP00000395995:L120I;ENSP00000390190:L120I;ENSP00000388745:L120I;ENSP00000386503:L120I	.	L	-	1	0	CCDC141	179551515	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.349000	0.59385	2.822000	0.97130	0.650000	0.86243	CTT			0.463	CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000335873.1		NM_173648	
FSIP2	401024	broad.mit.edu	37	2	186672907	186672907	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:186672907G>A	ENST00000424728.1	+	17	18874	c.18874G>A	c.(18874-18876)Gca>Aca	p.A6292T	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6381T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6292										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATGGTGAATGCAATTTCGAA	0.323																																					p.A6381T													.	FSIP2	251		0			c.G19141A												46.0	43.0	44.0					2																	186672907		1815	4068	5883	SO:0001583	missense	401024	exon17			GTGAATGCAATTT	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18874G>A	2.37:g.186672907G>A	ENSP00000401306:p.Ala6292Thr		Somatic	406	0.0049261084	2		WXS	Illumina HiSeq	Phase_I	458	0.02	9	NM_173651	0		0	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	G	15.17	2.754062	0.49362	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44482	0.92;0.93	5.3	5.3	0.74995	.	0.111425	0.40064	N	0.001190	T	0.37156	0.0993	N	0.22421	0.69	0.25763	N	0.984929	.	.	.	.	.	.	T	0.30592	-0.9973	8	0.39692	T	0.17	.	14.3344	0.66578	0.0:0.0:1.0:0.0	.	.	.	.	T	6381;6292	ENSP00000344403:A6381T;ENSP00000401306:A6292T	ENSP00000344403:A6381T	A	+	1	0	FSIP2	186381152	1.000000	0.71417	0.884000	0.34674	0.120000	0.20174	3.251000	0.51453	2.758000	0.94735	0.655000	0.94253	GCA			0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000332778.3		NM_173651	
COQ10B	80219	broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	198334798	198334798	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:198334798C>A	ENST00000263960.2	+	4	590	c.452C>A	c.(451-453)tCt>tAt	p.S151Y	COQ10B_ENST00000545340.1_Missense_Mutation_p.S108Y|COQ10B_ENST00000409010.1_Missense_Mutation_p.S123Y|COQ10B_ENST00000409398.1_Missense_Mutation_p.S101Y	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	151						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTAGGCATCTTGTACTGAT	0.368																																					p.S151Y													.	COQ10B	18		0			c.C452A												160.0	141.0	148.0					2																	198334798		2203	4300	6503	SO:0001583	missense	80219	exon4			AGGCATCTTGTAC	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.452C>A	2.37:g.198334798C>A	ENSP00000263960:p.Ser151Tyr		Somatic	186	0.0053763441	1		WXS	Illumina HiSeq	Phase_I	211	0.05	11	NM_025147	33	0.03	1	B7Z1Y4	Missense_Mutation	SNP	ENST00000263960.2	37	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230250	0.79688	.	.	ENSG00000115520	ENST00000263960;ENST00000409398;ENST00000545340;ENST00000409010	T;T;T;T	0.45668	1.87;0.89;1.88;1.89	5.25	5.25	0.73442	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.70595	2.14	0.53005	D	0.999962	D;D	0.57571	0.973;0.98	P;P	0.56163	0.722;0.793	T	0.59380	-0.7465	10	0.59425	D	0.04	12.2067	12.2335	0.54500	0.0:0.9218:0.0:0.0782	.	123;151	B8ZZV9;Q9H8M1	.;CQ10B_HUMAN	Y	151;101;108;123	ENSP00000263960:S151Y;ENSP00000386785:S101Y;ENSP00000442520:S108Y;ENSP00000387223:S123Y	ENSP00000263960:S151Y	S	+	2	0	COQ10B	198043043	0.999000	0.42202	0.998000	0.56505	0.975000	0.68041	4.054000	0.57434	2.451000	0.82905	0.650000	0.86243	TCT			0.368	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256105.2		NM_025147	
SGOL2	151246	broad.mit.edu	37	2	201399866	201399867	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:201399866_201399867insA	ENST00000357799.4	+	3	379_380	c.281_282insA	c.(280-285)acatttfs	p.F95fs	SGOL2_ENST00000469840.1_3'UTR|SGOL2_ENST00000409203.3_Frame_Shift_Ins_p.F95fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	95					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTGAGAACACATTTCTTCGCC	0.292																																					p.T94fs													.	SGOL2	126		0			c.281_282insA																																									SO:0001589	frameshift_variant	151246	exon3			AGAACACATTTCT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.282dupA	2.37:g.201399867_201399867dupA	ENSP00000350447:p.Phe95fs		Somatic	365	0	0		WXS	Illumina HiSeq	Phase_I	440	0.02	8	NM_152524	3	0.00	0	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	CCDS42796.1																																																																																					0.292	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335834.1		NM_152524	
NBEAL1	65065	broad.mit.edu	37	2	204039941	204039942	+	Frame_Shift_Ins	INS	-	-	G	rs200940176	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:204039941_204039942insG	ENST00000449802.1	+	41	6641_6642	c.6308_6309insG	c.(6307-6312)gcggggfs	p.AG2103fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2103	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAAATTCTGCGGGGGTCATGC	0.366																																					p.A2103fs													.	NBEAL1	266		0			c.6308_6309insG																																									SO:0001589	frameshift_variant	65065	exon41			ATTCTGCGGGGGT	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6313dupG	2.37:g.204039946_204039946dupG	ENSP00000399903:p.Ala2103fs		Somatic	404	0	0		WXS	Illumina HiSeq	Phase_I	417	0.00	0	NM_001114132	1	0.00	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Ins	INS	ENST00000449802.1	37	CCDS46495.1																																																																																					0.366	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333982.4			
DYTN	391475	broad.mit.edu	37	2	207527786	207527786	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:207527786G>T	ENST00000452335.2	-	11	1590	c.1474C>A	c.(1474-1476)Ccc>Acc	p.P492T		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	492						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACCATTTTGGGGATGTCCTGC	0.502																																					p.P492T													.	DYTN	168		0			c.C1474A												172.0	157.0	162.0					2																	207527786		1934	4171	6105	SO:0001583	missense	391475	exon11			TTTTGGGGATGTC	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1474C>A	2.37:g.207527786G>T	ENSP00000396593:p.Pro492Thr		Somatic	233	0.0042918455	1		WXS	Illumina HiSeq	Phase_I	278	0.01	4	NM_001093730	0		0		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	9.443	1.088603	0.20390	.	.	ENSG00000232125	ENST00000452335	T	0.14640	2.49	5.12	-0.369	0.12534	.	.	.	.	.	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.34625	-0.9821	9	0.56958	D	0.05	-0.7334	2.952	0.05865	0.2919:0.0:0.3832:0.3249	.	492	A2CJ06	DYTN_HUMAN	T	492	ENSP00000396593:P492T	ENSP00000396593:P492T	P	-	1	0	DYTN	207236031	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.782000	0.04643	0.084000	0.17077	0.650000	0.86243	CCC			0.502	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336799.1			
KANSL1L	151050	broad.mit.edu	37	2	210888778	210888779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:210888778_210888779insA	ENST00000281772.9	-	14	2974_2975	c.2711_2712insT	c.(2710-2712)ttafs	p.L904fs	KANSL1L_ENST00000418791.1_Frame_Shift_Ins_p.L862fs	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	904						histone acetyltransferase complex (GO:0000123)											GACTTTGATTTAAAGAAGGTAA	0.376																																					p.L904fs													.	.			0			c.2712_2713insT																																									SO:0001589	frameshift_variant	151050	exon14			TTGATTTAAAGAA	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2712dupT	2.37:g.210888781_210888781dupA	ENSP00000281772:p.Leu904fs		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	233	0.02	4	NM_152519	14	0.00	0	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Frame_Shift_Ins	INS	ENST00000281772.9	37	CCDS33370.1																																																																																					0.376	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336633.3		NM_152519	
FN1	2335	broad.mit.edu	37	2	216235100	216235100	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:216235100G>T	ENST00000359671.1	-	40	6762	c.6497C>A	c.(6496-6498)gCc>gAc	p.A2166D	FN1_ENST00000346544.3_Missense_Mutation_p.A2046D|FN1_ENST00000357867.4_Missense_Mutation_p.A1956D|FN1_ENST00000323926.6_Missense_Mutation_p.A2226D|FN1_ENST00000443816.1_Missense_Mutation_p.A2045D|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.A2020D|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.A2110D|FN1_ENST00000432072.2_Missense_Mutation_p.A2047D|FN1_ENST00000336916.4_Missense_Mutation_p.A2135D|FN1_ENST00000354785.4_Missense_Mutation_p.A2257D|FN1_ENST00000356005.4_Missense_Mutation_p.A2076D			P02751	FINC_HUMAN	fibronectin 1	2166	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTTGTAGGTGGCACCTCTGGT	0.498																																					p.A2257D													.	FN1	521		0			c.C6770A												123.0	103.0	110.0					2																	216235100		2203	4300	6503	SO:0001583	missense	2335	exon41			TAGGTGGCACCTC		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6497C>A	2.37:g.216235100G>T	ENSP00000352696:p.Ala2166Asp		Somatic	129	0.007751938	1		WXS	Illumina HiSeq	Phase_I	152	0.03	5	NM_212482	1275	0.00	0	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	G	18.57	3.653548	0.67472	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.81	3.02	0.34903	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.361702	0.25954	N	0.027230	T	0.66137	0.2759	M	0.66939	2.045	0.80722	D	1	D;D;P;P;P;P;D;D;P;P;P;P;P	0.67145	0.996;0.994;0.836;0.915;0.836;0.813;0.961;0.979;0.933;0.699;0.813;0.821;0.921	D;D;B;P;B;P;P;P;P;P;P;P;P	0.74023	0.982;0.953;0.399;0.739;0.399;0.761;0.901;0.9;0.846;0.761;0.761;0.557;0.804	T	0.62205	-0.6903	10	0.40728	T	0.16	.	10.2278	0.43236	0.2153:0.0:0.7847:0.0	.	1926;2046;2047;2226;1956;2076;2110;2135;2167;2020;2045;2257;2166	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	2020;2226;2135;1956;2257;2167;2166;2046;2110;2045;2047;2076;883	ENSP00000394423:A2020D;ENSP00000323534:A2226D;ENSP00000338200:A2135D;ENSP00000350534:A1956D;ENSP00000346839:A2257D;ENSP00000352696:A2166D;ENSP00000265312:A2046D;ENSP00000410422:A2110D;ENSP00000415018:A2045D;ENSP00000399538:A2047D;ENSP00000348285:A2076D;ENSP00000416139:A883D	ENSP00000265313:A2167D	A	-	2	0	FN1	215943345	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.114000	0.57858	0.363000	0.24346	0.462000	0.41574	GCC			0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding				NM_212476	
RNF25	64320	broad.mit.edu	37	2	219540116	219540116	+	5'Flank	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:219540116C>A	ENST00000295704.2	-	0	0				STK36_ENST00000392105.3_Silent_p.S118S|STK36_ENST00000440309.1_Silent_p.S118S|STK36_ENST00000295709.3_Silent_p.S118S|STK36_ENST00000392106.2_Silent_p.S118S	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTGCATTCCCACCGCATCC	0.483																																					p.S118S													.	STK36	111		0			c.C354A												171.0	157.0	162.0					2																	219540116		2203	4300	6503	SO:0001631	upstream_gene_variant	27148	exon5			GCATTCCCACCGC		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219540116C>A	Exception_encountered		Somatic	244	0	0		WXS	Illumina HiSeq	Phase_I	280	0.01	2	NM_015690	7	0.00	0	A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	CCDS2420.1																																																																																					0.483	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256721.1		NM_022453	
MFF	56947	broad.mit.edu	37	2	228220439	228220439	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:228220439G>T	ENST00000353339.3	+	10	1300	c.859G>T	c.(859-861)Gac>Tac	p.D287Y	MFF_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Missense_Mutation_p.D236Y|MFF_ENST00000354503.6_Missense_Mutation_p.D163Y|MFF_ENST00000337110.7_Missense_Mutation_p.D188Y|MFF_ENST00000349901.7_Missense_Mutation_p.D183Y|MFF_ENST00000409616.1_Missense_Mutation_p.D183Y|MFF_ENST00000409565.1_Missense_Mutation_p.D163Y|MFF_ENST00000524634.1_Missense_Mutation_p.D34Y|MFF_ENST00000392059.1_Missense_Mutation_p.D287Y	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	287					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AACGTCAGATGACCTGACTGT	0.318																																					p.D287Y													.	MFF	48		0			c.G859T												164.0	165.0	165.0					2																	228220439		2203	4300	6503	SO:0001583	missense	56947	exon10			TCAGATGACCTGA	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.859G>T	2.37:g.228220439G>T	ENSP00000302037:p.Asp287Tyr		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	190	0.02	3	NM_020194	447	0.00	1	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976575	0.92982	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000409616;ENST00000337110;ENST00000534203;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.38887	1.11;1.11	6.08	6.08	0.98989	.	0.042790	0.85682	D	0.000000	T	0.64789	0.2630	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.965;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.974;0.914;0.991;0.999;0.999	T	0.63484	-0.6627	10	0.87932	D	0	-11.1421	20.6721	0.99693	0.0:0.0:1.0:0.0	.	163;188;183;236;287	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;Q9GZY8-2;Q9GZY8	.;.;.;.;MFF_HUMAN	Y	236;287;163;163;183;188;59;34;183;287;99	ENSP00000302037:D287Y;ENSP00000375912:D287Y	ENSP00000304898:D236Y	D	+	1	0	MFF	227928683	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.721000	0.91446	2.894000	0.99253	0.591000	0.81541	GAC			0.318	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256887.2		NM_020194	
HJURP	55355	broad.mit.edu	37	2	234750714	234750714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:234750714C>A	ENST00000411486.2	-	8	777	c.712G>T	c.(712-714)Gag>Tag	p.E238*	HJURP_ENST00000434039.1_5'UTR|HJURP_ENST00000432087.1_Nonsense_Mutation_p.E184*|HJURP_ENST00000441687.1_Nonsense_Mutation_p.E153*	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	238					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CTACTGGTCTCTTGTAGGGAG	0.507																																					p.E238X													.	HJURP	72		0			c.G712T												151.0	136.0	141.0					2																	234750714		2203	4300	6503	SO:0001587	stop_gained	55355	exon8			TGGTCTCTTGTAG		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.712G>T	2.37:g.234750714C>A	ENSP00000414109:p.Glu238*		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	121	0.03	4	NM_018410	98	0.00	0	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Nonsense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732257	0.48939	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924;ENST00000454020	.	.	.	4.22	3.34	0.38264	.	0.626585	0.14875	N	0.293316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.9098	8.2762	0.31874	0.0:0.8937:0.0:0.1063	.	.	.	.	X	238;184;153;153;197	.	ENSP00000414109:E238X	E	-	1	0	HJURP	234415453	0.007000	0.16637	0.002000	0.10522	0.003000	0.03518	2.934000	0.48956	1.375000	0.46248	-0.150000	0.13652	GAG			0.507	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000130996.6		NM_018410	
IQCA1	79781	broad.mit.edu	37	2	237327829	237327829	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:237327829G>A	ENST00000409907.3	-	8	1371	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V	IQCA1_ENST00000309507.5_Missense_Mutation_p.A362V|IQCA1_ENST00000431676.2_Intron|IQCA1_ENST00000465621.1_5'UTR	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	366	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGTTTTTTGGCTTTCTTGGG	0.274																																					p.A373V													.	IQCA1	170		0			c.C1118T												19.0	19.0	19.0					2																	237327829		1332	2931	4263	SO:0001583	missense	79781	exon8			TTTTTGGCTTTCT	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1097C>T	2.37:g.237327829G>A	ENSP00000387347:p.Ala366Val		Somatic	669	0.0014947683	1		WXS	Illumina HiSeq	Phase_I	736	0.01	6	NM_001270585	2	0.00	0	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	6.535	0.466996	0.12402	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000412437	D;D	0.93953	-3.32;-3.32	3.29	-0.928	0.10448	.	1.779420	0.02755	N	0.117884	D	0.88872	0.6555	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.73610	-0.3928	10	0.32370	T	0.25	.	5.5873	0.17281	0.0:0.3054:0.283:0.4116	.	373;366	E9PH78;Q86XH1	.;IQCA1_HUMAN	V	366;373;362;362	ENSP00000387347:A366V;ENSP00000311951:A362V	ENSP00000254653:A366V	A	-	2	0	IQCA1	236992568	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.429000	0.06982	-0.226000	0.09899	0.655000	0.94253	GCC			0.274	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000329266.1		NM_024726	
COL6A3	1293	broad.mit.edu	37	2	238271979	238271979	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:238271979G>T	ENST00000295550.4	-	14	6432	c.5980C>A	c.(5980-5982)Ctg>Atg	p.L1994M	COL6A3_ENST00000347401.3_Missense_Mutation_p.L1793M|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1387M|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1794M|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1788M|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1788M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1994	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAAACTCCAGATGCATTAGC	0.488																																					p.L1994M													.	COL6A3	608		0			c.C5980A												102.0	95.0	97.0					2																	238271979		2203	4300	6503	SO:0001583	missense	1293	exon14			ACTCCAGATGCAT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5980C>A	2.37:g.238271979G>T	ENSP00000295550:p.Leu1994Met		Somatic	268	0.0111940299	3		WXS	Illumina HiSeq	Phase_I	287	0.01	4	NM_004369	32	0.00	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398699	0.11696	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.88	1.97	0.26223	von Willebrand factor, type A (2);	0.180425	0.26514	N	0.023960	T	0.59742	0.2216	M	0.80746	2.51	0.45914	D	0.998752	D;D;D	0.89917	0.999;1.0;0.99	D;D;P	0.77004	0.974;0.989;0.893	T	0.56335	-0.7996	10	0.62326	D	0.03	.	6.4333	0.21809	0.1575:0.2798:0.5627:0.0	.	1387;1788;1994	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	1994;1793;1788;1387;1788;1794	ENSP00000295550:L1994M;ENSP00000315609:L1793M;ENSP00000315873:L1788M;ENSP00000418285:L1387M;ENSP00000386844:L1788M;ENSP00000295546:L1794M	ENSP00000295550:L1994M	L	-	1	2	COL6A3	237936718	0.021000	0.18746	0.857000	0.33713	0.375000	0.29983	0.406000	0.21032	0.081000	0.16988	-0.216000	0.12614	CTG			0.488	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315790.2		NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238296450	238296450	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:238296450G>T	ENST00000295550.4	-	4	1539	c.1087C>A	c.(1087-1089)Cgc>Agc	p.R363S	COL6A3_ENST00000392004.3_Missense_Mutation_p.R157S|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.R363S|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.R157S|COL6A3_ENST00000353578.4_Missense_Mutation_p.R157S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	363	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCCCGTAGCGAATCTCGTCA	0.627																																					p.R363S													COL6A3_ENST00000392004,NS,carcinoma,+1,2	COL6A3	608	2	0			c.C1087A												44.0	45.0	45.0					2																	238296450		2203	4300	6503	SO:0001583	missense	1293	exon4			CGTAGCGAATCTC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1087C>A	2.37:g.238296450G>T	ENSP00000295550:p.Arg363Ser		Somatic	87	0.0114942529	1		WXS	Illumina HiSeq	Phase_I	111	0.03	3	NM_004369	2	0.00	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587143	0.13812	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.17	0.905	0.19307	von Willebrand factor, type A (3);	0.865126	0.09569	U	0.784465	T	0.69682	0.3138	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.33000	0.051;0.011;0.393;0.051	B;B;B;B	0.32928	0.046;0.039;0.155;0.046	T	0.56341	-0.7995	10	0.30078	T	0.28	.	9.1715	0.37083	0.0:0.3004:0.4549:0.2447	.	363;157;157;363	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	S	363;157;157;363;157;363	ENSP00000295550:R363S;ENSP00000315873:R157S;ENSP00000386844:R157S;ENSP00000295546:R363S;ENSP00000375861:R157S;ENSP00000389539:R363S	ENSP00000295550:R363S	R	-	1	0	COL6A3	237961189	0.001000	0.12720	0.553000	0.28255	0.778000	0.44026	0.272000	0.18644	0.542000	0.28846	-0.156000	0.13503	CGC			0.627	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315790.2		NM_004369	
PER2	8864	mdanderson.org	37	2	239161833	239161833	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:239161833G>A	ENST00000254657.3	-	19	3110	c.2831C>T	c.(2830-2832)gCc>gTc	p.A944V	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	944	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGCTGTGAGGCAGAGGCCAT	0.657																																					p.A944V													.	.			0			c.C2831T												52.0	54.0	53.0					2																	239161833		2203	4300	6503	SO:0001583	missense	8864	exon19			TGTGAGGCAGAGG	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2831C>T	2.37:g.239161833G>A	ENSP00000254657:p.Ala944Val		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_022817	2	0.00	0	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	3.987	-0.005253	0.07773	.	.	ENSG00000132326	ENST00000254657	T	0.11604	2.76	4.1	1.94	0.25998	.	2.012890	0.02230	N	0.064840	T	0.15392	0.0371	M	0.78801	2.425	0.19775	N	0.999953	B;B	0.14012	0.002;0.009	B;B	0.12156	0.002;0.007	T	0.41288	-0.9517	10	0.15499	T	0.54	-10.3531	4.8212	0.13392	0.2235:0.1765:0.6:0.0	.	944;944	B4DH14;O15055	.;PER2_HUMAN	V	944	ENSP00000254657:A944V	ENSP00000254657:A944V	A	-	2	0	PER2	238826572	0.036000	0.19791	0.288000	0.24862	0.025000	0.11179	1.912000	0.39946	0.307000	0.22880	0.561000	0.74099	GCC			0.657	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257167.1		NM_022817	
TRMT6	51605	broad.mit.edu	37	20	5924639	5924639	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:5924639C>T	ENST00000203001.2	-	5	627	c.497G>A	c.(496-498)cGt>cAt	p.R166H	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	166					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TGAAAGAATACGGGTGGATGG	0.313																																					p.R166H													.	TRMT6	28		0			c.G497A												50.0	52.0	51.0					20																	5924639		2203	4298	6501	SO:0001583	missense	51605	exon5			AGAATACGGGTGG	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.497G>A	20.37:g.5924639C>T	ENSP00000203001:p.Arg166His		Somatic	245	0.012244898	3		WXS	Illumina HiSeq	Phase_I	288	0.02	5	NM_015939	30	0.00	0	B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864771	0.91511	.	.	ENSG00000089195	ENST00000203001	T	0.27256	1.68	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48068	-0.9067	10	0.27785	T	0.31	-10.3553	19.9664	0.97271	0.0:1.0:0.0:0.0	.	166	Q9UJA5	TRM6_HUMAN	H	166	ENSP00000203001:R166H	ENSP00000203001:R166H	R	-	2	0	TRMT6	5872639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.283000	0.78640	2.724000	0.93272	0.650000	0.86243	CGT			0.313	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077889.2			
KIF3B	9371	broad.mit.edu	37	20	30898575	30898575	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:30898575G>T	ENST00000375712.3	+	2	1162	c.995G>T	c.(994-996)cGa>cTa	p.R332L	KIF3B_ENST00000418717.2_Missense_Mutation_p.R20L	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	332	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCACTCTGCGATATGCCAAC	0.527																																					p.R332L													.	KIF3B	75		0			c.G995T												79.0	65.0	70.0					20																	30898575		2203	4300	6503	SO:0001583	missense	9371	exon2			CTCTGCGATATGC	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.995G>T	20.37:g.30898575G>T	ENSP00000364864:p.Arg332Leu		Somatic	186	0.0053763441	1		WXS	Illumina HiSeq	Phase_I	163	0.02	3	NM_004798	4	0.00	0	B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338353	0.81911	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.77098	-1.07;-0.84	4.47	4.47	0.54385	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.82716	2.605	0.80722	D	1	D;P;D	0.89917	0.983;0.691;1.0	D;B;D	0.87578	0.933;0.417;0.998	D	0.90585	0.4532	10	0.66056	D	0.02	.	17.325	0.87244	0.0:0.0:1.0:0.0	.	20;332;332	B4DSR5;B4DYF2;O15066	.;.;KIF3B_HUMAN	L	332;20	ENSP00000364864:R332L;ENSP00000406287:R20L	ENSP00000364864:R332L	R	+	2	0	KIF3B	30362236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.322000	0.78497	0.462000	0.41574	CGA			0.527	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078619.1		NM_004798	
TTI1	9675	broad.mit.edu	37	20	36642033	36642033	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:36642033G>T	ENST00000373448.2	-	3	424	c.186C>A	c.(184-186)acC>acA	p.T62T	TTI1_ENST00000449821.1_Silent_p.T62T|TTI1_ENST00000373447.3_Silent_p.T62T|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	62					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGGGACCTGGGGTCTTCAGGG	0.493																																					p.T62T													TTI1,NS,carcinoma,-2,1	TTI1	104	1	0			c.C186A												121.0	104.0	110.0					20																	36642033		2203	4300	6503	SO:0001819	synonymous_variant	9675	exon3			ACCTGGGGTCTTC	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.186C>A	20.37:g.36642033G>T			Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	175	0.02	4	NM_014657	5	0.00	0	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	CCDS13300.1																																																																																					0.493	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079138.2		NM_014657	
PTPRT	11122	broad.mit.edu	37	20	40827906	40827906	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:40827906G>T	ENST00000373187.1	-	16	2464	c.2465C>A	c.(2464-2466)tCt>tAt	p.S822Y	PTPRT_ENST00000373193.3_Missense_Mutation_p.S825Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.S822Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.S812Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.S841Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.S812Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.S831Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	822					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGAGAACTAGAAGAGAAGCC	0.577																																					p.S841Y													.	PTPRT	372		0			c.C2522A												329.0	332.0	331.0					20																	40827906		2049	4206	6255	SO:0001583	missense	11122	exon17			GAACTAGAAGAGA	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2465C>A	20.37:g.40827906G>T	ENSP00000362283:p.Ser822Tyr		Somatic	226	0.0044247788	1		WXS	Illumina HiSeq	Phase_I	208	0.01	3	NM_133170	0		0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951173	0.18431	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35973	1.34;1.29;1.3;1.28;1.31;1.29;1.29	5.4	5.4	0.78164	.	0.315069	0.35466	N	0.003183	T	0.28830	0.0715	N	0.22421	0.69	0.46279	D	0.998967	B;B	0.25609	0.13;0.046	B;B	0.29077	0.098;0.045	T	0.05007	-1.0912	10	0.22706	T	0.39	.	17.7172	0.88341	0.0:0.0:1.0:0.0	.	844;822	O14522-1;O14522	.;PTPRT_HUMAN	Y	822;822;825;831;844;812;812	ENSP00000362286:S822Y;ENSP00000362283:S822Y;ENSP00000362289:S825Y;ENSP00000348408:S831Y;ENSP00000362294:S844Y;ENSP00000362280:S812Y;ENSP00000362297:S812Y	ENSP00000348408:S831Y	S	-	2	0	PTPRT	40261320	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.623000	0.74238	2.694000	0.91930	0.655000	0.94253	TCT			0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000080315.1			
DBNDD2	55861	broad.mit.edu	37	20	44037587	44037587	+	Intron	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:44037587C>A	ENST00000372720.3	+	3	802				SYS1-DBNDD2_ENST00000475242.1_Intron|DBNDD2_ENST00000357275.2_Intron|DBNDD2_ENST00000372717.1_Missense_Mutation_p.L96I|DBNDD2_ENST00000372722.3_Missense_Mutation_p.L96I|DBNDD2_ENST00000372710.3_Intron|DBNDD2_ENST00000360981.4_Intron|DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000372712.2_Intron|TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2						negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGTATGCCCCTCTGCTTTGG	0.572																																					p.L198I													.	DBNDD2	30		0			c.C592A												83.0	83.0	83.0					20																	44037587		1924	4133	6057	SO:0001627	intron_variant	55861	exon2			ATGCCCCTCTGCT	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.571+9C>A	20.37:g.44037587C>A			Somatic	106	0	0		WXS	Illumina HiSeq	Phase_I	104	0.04	4	NM_001048226	2	0.00	0	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	CCDS56193.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548958	0.65311	.	.	ENSG00000244274	ENST00000372722;ENST00000372717	T;T	0.30981	1.51;1.51	5.29	0.411	0.16392	.	.	.	.	.	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.17098	0.017	T	0.32693	-0.9897	8	.	.	.	.	3.7041	0.08394	0.0:0.4545:0.1863:0.3592	.	96	Q5QPV4	.	I	96	ENSP00000361807:L96I;ENSP00000361802:L96I	.	L	+	1	0	DBNDD2	43471001	0.000000	0.05858	0.060000	0.19600	0.997000	0.91878	-0.950000	0.03889	0.207000	0.20607	0.655000	0.94253	CTC			0.572	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000079438.1		NM_018478	
PLTP	5360	broad.mit.edu	37	20	44539808	44539808	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:44539808G>T	ENST00000477313.1	-	2	777	c.183C>A	c.(181-183)ttC>ttA	p.F61L	PLTP_ENST00000372431.3_Missense_Mutation_p.F61L|PLTP_ENST00000420868.2_Missense_Mutation_p.F61L|PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000542937.1_Missense_Mutation_p.F81L|PLTP_ENST00000354050.4_Missense_Mutation_p.F61L			P55058	PLTP_HUMAN	phospholipid transfer protein	61					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TGTTGTAGTAGAAGTGGCCTT	0.632																																					p.F61L													.	PLTP	49		0			c.C183A												83.0	86.0	85.0					20																	44539808		2203	4300	6503	SO:0001583	missense	5360	exon3			GTAGTAGAAGTGG	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.183C>A	20.37:g.44539808G>T	ENSP00000417138:p.Phe61Leu		Somatic	161	0.0062111801	1		WXS	Illumina HiSeq	Phase_I	185	0.02	4	NM_182676	101	0.00	0	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733933	0.69189	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.74	5.07	3.1	0.35709	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	M	0.70275	2.135	0.58432	D	0.999991	D;D;D;D;D;D	0.89917	0.997;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.87578	0.985;0.985;0.998;0.997;0.998;0.998	T	0.02868	-1.1100	10	0.22706	T	0.39	-34.4253	11.5657	0.50805	0.1467:0.0:0.8533:0.0	.	61;61;61;61;61;81	E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	L	61;61;61;81;61	ENSP00000361508:F61L;ENSP00000335290:F61L;ENSP00000417138:F61L;ENSP00000440296:F81L;ENSP00000411671:F61L	ENSP00000335290:F61L	F	-	3	2	PLTP	43973215	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.864000	0.56024	0.705000	0.31890	0.467000	0.42956	TTC			0.632	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354633.1		NM_006227	
PCIF1	63935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	44574893	44574893	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:44574893G>T	ENST00000372409.3	+	14	1847	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	495					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ATCGCTGCCTGTGCATGTCTT	0.627																																					p.V495L													.	.			0			c.G1483T												109.0	101.0	104.0					20																	44574893		2203	4300	6503	SO:0001583	missense	63935	exon14			CTGCCTGTGCATG	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1483G>T	20.37:g.44574893G>T	ENSP00000361486:p.Val495Leu		Somatic	63	0	0		WXS	Illumina HiSeq	.	95	0.18	17	NM_022104	100	0.28	28	E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271031	0.59540	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	4.96	3.97	0.46021	Phosphorylated CTD interacting factor 1, WW domain (1);	0.061488	0.64402	D	0.000004	T	0.50820	0.1638	L	0.52759	1.655	0.80722	D	1	P	0.35383	0.498	B	0.32762	0.152	T	0.54364	-0.8305	9	0.49607	T	0.09	-20.2718	14.1415	0.65322	0.0:0.1512:0.8488:0.0	.	495	Q9H4Z3	PCIF1_HUMAN	L	495	.	ENSP00000361486:V495L	V	+	1	0	PCIF1	44008300	1.000000	0.71417	0.896000	0.35187	0.857000	0.48899	9.377000	0.97184	1.244000	0.43870	0.462000	0.41574	GTG			0.627	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079550.1		NM_022104	
MC3R	4159	broad.mit.edu	37	20	54824540	54824540	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:54824540C>T	ENST00000243911.2	+	1	753	c.641C>T	c.(640-642)gCg>gTg	p.A214V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	214					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TTCCTCTTTGCGCGGCTGCAC	0.572																																					p.A214V													.	MC3R	83		0			c.C641T												179.0	133.0	149.0					20																	54824540		2203	4300	6503	SO:0001583	missense	4159	exon1			TCTTTGCGCGGCT		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.641C>T	20.37:g.54824540C>T	ENSP00000243911:p.Ala214Val		Somatic	149	0	0		WXS	Illumina HiSeq	Phase_I	186	0.02	4	NM_019888	0		0	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605699	0.87157	.	.	ENSG00000124089	ENST00000243911	T	0.34072	1.38	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.61085	0.2319	M	0.70903	2.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.66126	-0.6001	10	0.87932	D	0	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	251	P41968	MC3R_HUMAN	V	214	ENSP00000243911:A214V	ENSP00000243911:A214V	A	+	2	0	MC3R	54257947	1.000000	0.71417	0.995000	0.50966	0.803000	0.45373	7.624000	0.83124	2.259000	0.74868	0.555000	0.69702	GCG			0.572	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079786.2			
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862831	10862831	+	RNA	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:10862831G>T	ENST00000559480.1	+	0	127							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CTCCTGCAAGGCTTCTGGATA	0.587																																					.													.	.			0			.												188.0	179.0	182.0					21																	10862831		2031	4186	6217			0	.			TGCAAGGCTTCTG			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862831G>T			Somatic	220	0	0		WXS	Illumina HiSeq	Phase_I	251	0.02	4	.	0		0		RNA	SNP	ENST00000559480.1	37																																																																																						0.587	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene				NG_011680	
ANKRD20A11P	391267	hgsc.bcm.edu	37	21	15343568	15343568	+	RNA	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:15343568A>G	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TGCAAATTATAGCAAATAAAA	0.294																																					.													.	.			0			.																																											391267	.			AATTATAGCAAAT			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343568A>G			Somatic	55	0	0		WXS	Illumina HiSeq	.	92	0.07	6	.	0		0		RNA	SNP	ENST00000344693.5	37																																																																																						0.294	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157750.1			
BTG3	10950	broad.mit.edu	37	21	18966553	18966553	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:18966553G>T	ENST00000348354.6	-	5	873	c.617C>A	c.(616-618)cCt>cAt	p.P206H	BTG3_ENST00000339775.6_Missense_Mutation_p.P250H	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	206					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		AACAGGAGGAGGATAGTGATT	0.443																																					p.P250H													.	BTG3	27		0			c.C749A												143.0	127.0	133.0					21																	18966553		2203	4299	6502	SO:0001583	missense	10950	exon6			GGAGGAGGATAGT	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.617C>A	21.37:g.18966553G>T	ENSP00000284879:p.Pro206His		Somatic	204	0	0		WXS	Illumina HiSeq	Phase_I	305	0.01	4	NM_001130914	320	0.00	0	D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532660	0.27387	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	4.12	3.24	0.37175	.	0.078763	0.48767	D	0.000165	T	0.12263	0.0298	N	0.14661	0.345	0.23396	N	0.997762	B;P	0.40180	0.22;0.705	B;B	0.25140	0.042;0.058	T	0.14952	-1.0454	9	0.30854	T	0.27	-2.4497	7.9274	0.29883	0.1106:0.0:0.8894:0.0	.	250;206	Q14201-2;Q14201	.;BTG3_HUMAN	H	250;206	.	ENSP00000344609:P250H	P	-	2	0	BTG3	17888424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.728000	0.54991	1.330000	0.45394	0.591000	0.81541	CCT			0.443	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000158196.1		NM_006806	
LTN1	26046	broad.mit.edu	37	21	30357129	30357129	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:30357129C>T	ENST00000361371.5	-	4	539	c.460G>A	c.(460-462)Gct>Act	p.A154T	LTN1_ENST00000389195.2_Missense_Mutation_p.A200T|LTN1_ENST00000389194.2_Missense_Mutation_p.A200T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	154					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCACACTGAGCCATTAGCCAA	0.413																																					p.A200T													.	LTN1	141		0			c.G598A												114.0	110.0	111.0					21																	30357129		2203	4300	6503	SO:0001583	missense	26046	exon4			ACTGAGCCATTAG	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.460G>A	21.37:g.30357129C>T	ENSP00000354977:p.Ala154Thr		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	271	0.02	5	NM_015565	0		0	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.508365	0.85282	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.67523	1.97;1.97;-0.27	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.064576	0.64402	D	0.000005	T	0.72285	0.3441	M	0.66939	2.045	0.58432	D	0.999995	D	0.56521	0.976	P	0.47206	0.541	T	0.76266	-0.3022	10	0.66056	D	0.02	.	19.3304	0.94283	0.0:1.0:0.0:0.0	.	154	O94822	LTN1_HUMAN	T	200;154;156;200	ENSP00000373846:A200T;ENSP00000354977:A154T;ENSP00000373847:A200T	ENSP00000354977:A154T	A	-	1	0	LTN1	29279000	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.425000	0.59875	2.805000	0.96524	0.460000	0.39030	GCT			0.413	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000472108.1		NM_015565	
BACH1	571	broad.mit.edu	37	21	30693795	30693795	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:30693795G>T	ENST00000399921.1	+	2	437	c.194G>T	c.(193-195)gGc>gTc	p.G65V	BACH1_ENST00000286800.3_Missense_Mutation_p.G65V	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGAATCGTAGGCCAGGCTGAT	0.483																																					p.G65V													.	BACH1	66		0			c.G194T												92.0	79.0	83.0					21																	30693795		2203	4300	6503	SO:0001583	missense	571	exon2			TCGTAGGCCAGGC	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.194G>T	21.37:g.30693795G>T	ENSP00000382805:p.Gly65Val		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	316	0.01	4	NM_206866	1	0.00	0	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348376	0.61183	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.19	4.31	0.51392	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.155329	0.46758	D	0.000279	T	0.50565	0.1623	M	0.87758	2.905	0.53005	D	0.999963	D	0.89917	1.0	D	0.81914	0.995	T	0.53933	-0.8368	9	.	.	.	-16.6486	6.3502	0.21370	0.1518:0.0:0.6999:0.1483	.	65	O14867	BACH1_HUMAN	V	65	ENSP00000286800:G65V;ENSP00000382805:G65V;ENSP00000400576:G65V;ENSP00000408605:G65V;ENSP00000392202:G65V	.	G	+	2	0	BACH1	29615666	1.000000	0.71417	0.977000	0.42913	0.903000	0.53119	1.912000	0.39946	1.317000	0.45149	0.455000	0.32223	GGC			0.483	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171974.1		NM_206866	
GRIK1	2897	broad.mit.edu	37	21	31045454	31045454	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:31045454G>T	ENST00000399907.1	-	4	986	c.575C>A	c.(574-576)gCt>gAt	p.A192D	GRIK1_ENST00000399913.1_Missense_Mutation_p.A192D|GRIK1_ENST00000535441.1_Missense_Mutation_p.A192D|GRIK1_ENST00000389124.2_Missense_Mutation_p.A192D|GRIK1_ENST00000399909.1_Missense_Mutation_p.A192D|GRIK1_ENST00000399914.1_Missense_Mutation_p.A192D|GRIK1_ENST00000389125.3_Missense_Mutation_p.A192D|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Missense_Mutation_p.A192D|GRIK1_ENST00000327783.4_Missense_Mutation_p.A192D	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	192					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCTGGAGGGAGCTTTGATGAG	0.408																																					p.A192D													.	GRIK1	293		0			c.C575A												79.0	83.0	82.0					21																	31045454		2203	4300	6503	SO:0001583	missense	2897	exon4			GAGGGAGCTTTGA		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.575C>A	21.37:g.31045454G>T	ENSP00000382791:p.Ala192Asp		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	282	0.02	5	NM_175611	0		0	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030164	0.93575	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90497	0.7023	M	0.68317	2.08	0.80722	D	1	D;D;P;D;D;D	0.76494	0.999;0.999;0.916;0.999;0.999;0.999	D;D;P;D;D;D	0.87578	0.998;0.998;0.826;0.998;0.998;0.997	D	0.89764	0.3949	10	0.51188	T	0.08	.	19.1745	0.93599	0.0:0.0:1.0:0.0	.	192;192;192;192;192;192	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	D	192;192;192;192;192;136;192;192;192;192	ENSP00000327687:A192D;ENSP00000373777:A192D;ENSP00000382797:A192D;ENSP00000382798:A192D;ENSP00000446326:A192D;ENSP00000373776:A192D;ENSP00000382791:A192D;ENSP00000382793:A192D;ENSP00000311646:A192D	ENSP00000311646:A192D	A	-	2	0	GRIK1	29967325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.627000	0.98412	2.850000	0.98022	0.650000	0.86243	GCT			0.408	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000171979.1			
TIAM1	7074	broad.mit.edu	37	21	32624145	32624145	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:32624145C>T	ENST00000286827.3	-	6	1795	c.1324G>A	c.(1324-1326)Gtc>Atc	p.V442I	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.V442I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	442	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAGTTCTTGACGGCCAGGGCG	0.642																																					p.V442I													TIAM1_ENST00000286827,rectum,carcinoma,0,2	TIAM1	522	2	0			c.G1324A												72.0	74.0	73.0					21																	32624145		2203	4300	6503	SO:0001583	missense	7074	exon6			TCTTGACGGCCAG		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1324G>A	21.37:g.32624145C>T	ENSP00000286827:p.Val442Ile		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	300	0.01	3	NM_003253	3	0.00	0	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822484	0.71028	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.50548	0.78;0.74	4.62	4.62	0.57501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.064020	0.64402	D	0.000008	T	0.36331	0.0963	L	0.34521	1.04	0.80722	D	1	P;P;P;P	0.52316	0.887;0.907;0.952;0.907	B;B;B;B	0.36289	0.081;0.197;0.221;0.132	T	0.45264	-0.9273	10	0.59425	D	0.04	.	17.6527	0.88169	0.0:1.0:0.0:0.0	.	442;442;283;442	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	I	442;283;442	ENSP00000286827:V442I;ENSP00000441570:V442I	ENSP00000286827:V442I	V	-	1	0	TIAM1	31546016	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.494000	0.66905	2.381000	0.81170	0.655000	0.94253	GTC			0.642	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000192552.1		NM_003253	
URB1	9875	broad.mit.edu	37	21	33717054	33717054	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:33717054G>A	ENST00000382751.3	-	24	4197	c.4082C>T	c.(4081-4083)gCc>gTc	p.A1361V	RN7SL109P_ENST00000493105.2_RNA	NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1361						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						AATGGAGTCGGCCACGATCCA	0.507																																					p.A1361V													.	URB1	176		0			c.C4082T												60.0	52.0	54.0					21																	33717054		692	1591	2283	SO:0001583	missense	9875	exon24			GAGTCGGCCACGA	AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.4082C>T	21.37:g.33717054G>A	ENSP00000372199:p.Ala1361Val		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	75	0.04	3	NM_014825	14	0.00	0	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	ENST00000382751.3	37	CCDS46645.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428131	0.25726	.	.	ENSG00000142207	ENST00000382751	T	0.34275	1.37	5.0	4.11	0.48088	.	0.247105	0.39687	N	0.001293	T	0.34135	0.0887	M	0.64997	1.995	0.45129	D	0.998143	P	0.35456	0.502	B	0.27887	0.084	T	0.32929	-0.9888	10	0.66056	D	0.02	-13.876	13.9279	0.63975	0.0:0.0:0.847:0.153	.	1361	O60287	NPA1P_HUMAN	V	1361	ENSP00000372199:A1361V	ENSP00000372199:A1361V	A	-	2	0	URB1	32638925	1.000000	0.71417	0.638000	0.29380	0.059000	0.15707	4.916000	0.63362	1.301000	0.44836	0.561000	0.74099	GCC			0.507	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000139400.2			
BRWD1	54014	broad.mit.edu	37	21	40581968	40581968	+	Missense_Mutation	SNP	G	G	T	rs147607337		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:40581968G>T	ENST00000333229.2	-	36	4477	c.4150C>A	c.(4150-4152)Ctg>Atg	p.L1384M	BRWD1_ENST00000342449.3_Missense_Mutation_p.L1384M|BRWD1_ENST00000380800.3_Missense_Mutation_p.L1384M	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1384	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTAAATATCAGCCGGATGTCT	0.358																																					p.L1384M	Melanoma(170;988 1986 4794 16843 39731)												.	BRWD1	325		0			c.C4150A												105.0	97.0	100.0					21																	40581968		2202	4300	6502	SO:0001583	missense	54014	exon36			ATATCAGCCGGAT	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4150C>A	21.37:g.40581968G>T	ENSP00000330753:p.Leu1384Met		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	247	0.02	4	NM_018963	10	0.00	0	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.292050|3.292050	0.59976|0.59976	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.32023	.|1.47;1.47;1.47	5.96|5.96	3.59|3.59	0.41128|0.41128	.|Bromodomain (6);Bromodomain, conserved site (1);	.|0.000000	.|0.56097	.|D	.|0.000030	T|T	0.65811|0.65811	0.2727|0.2727	H|H	0.96662|0.96662	3.86|3.86	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.91635	.|0.987;0.987;0.999	T|T	0.71227|0.71227	-0.4655|-0.4655	5|10	.|0.87932	.|D	.|0	-5.0988|-5.0988	9.5836|9.5836	0.39504|0.39504	0.7863:0.0:0.2137:0.0|0.7863:0.0:0.2137:0.0	.|.	.|1384;1384;1384	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	D|M	321|1384;1384;1384;340	.|ENSP00000330753:L1384M;ENSP00000344333:L1384M;ENSP00000370178:L1384M	.|ENSP00000330753:L1384M	A|L	-|-	2|1	0|2	BRWD1|BRWD1	39503838|39503838	0.987000|0.987000	0.35691|0.35691	0.996000|0.996000	0.52242|0.52242	0.969000|0.969000	0.65631|0.65631	2.374000|2.374000	0.44274|0.44274	0.493000|0.493000	0.27837|0.27837	-0.294000|-0.294000	0.09567|0.09567	GCT|CTG			0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000141398.3		NM_033656	
DSCAM	1826	broad.mit.edu	37	21	41648167	41648167	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:41648167G>T	ENST00000400454.1	-	11	2690	c.2213C>A	c.(2212-2214)gCc>gAc	p.A738D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	738	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCATTTAGGGCAATTGGCTG	0.493																																					p.A738D	Melanoma(134;970 1778 1785 21664 32388)												.	DSCAM	347		0			c.C2213A												74.0	74.0	74.0					21																	41648167		1965	4193	6158	SO:0001583	missense	1826	exon11			TTTAGGGCAATTG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2213C>A	21.37:g.41648167G>T	ENSP00000383303:p.Ala738Asp		Somatic	167	0	0		WXS	Illumina HiSeq	Phase_I	261	0.02	4	NM_001271534	2	0.00	0	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535316	0.45176	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.27890	1.64;1.64	5.78	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119562	0.56097	D	0.000034	T	0.21761	0.0524	N	0.20845	0.615	0.40583	D	0.981413	P	0.35793	0.521	B	0.38378	0.272	T	0.04320	-1.0960	10	0.13108	T	0.6	.	15.7233	0.77732	0.0758:0.0:0.9242:0.0	.	738	O60469	DSCAM_HUMAN	D	738;490	ENSP00000383303:A738D;ENSP00000385342:A490D	ENSP00000383303:A738D	A	-	2	0	DSCAM	40570037	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.013000	0.64023	2.729000	0.93468	0.650000	0.86243	GCC			0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195029.1		NM_001389	
UMODL1	89766	broad.mit.edu	37	21	43547248	43547248	+	Silent	SNP	G	G	T	rs373998313		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:43547248G>T	ENST00000408910.2	+	19	3426	c.3426G>T	c.(3424-3426)ggG>ggT	p.G1142G	UMODL1_ENST00000408989.2_Silent_p.G1270G|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.G1198G|UMODL1_ENST00000400424.2_Silent_p.G1070G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1142	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCGAAGTGGGGCTCTACAGGC	0.522																																					p.G1270G	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												.	UMODL1	186		0			c.G3810T												92.0	94.0	93.0					21																	43547248		2001	4168	6169	SO:0001819	synonymous_variant	89766	exon18			AGTGGGGCTCTAC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3426G>T	21.37:g.43547248G>T			Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	225	0.01	3	NM_173568	83	0.00	0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																					0.522	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195292.2			
RRP1	8568	broad.mit.edu	37	21	45217893	45217893	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:45217893G>T	ENST00000497547.1	+	8	840	c.723G>T	c.(721-723)gaG>gaT	p.E241D	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CACAGGATGAGGAGGTGGCGT	0.577																																					p.E241D													.	RRP1	23		0			c.G723T												72.0	84.0	80.0					21																	45217893		2139	4250	6389	SO:0001583	missense	8568	exon8			GGATGAGGAGGTG	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.723G>T	21.37:g.45217893G>T	ENSP00000417464:p.Glu241Asp		Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	227	0.01	3	NM_003683	553	0.00	0	A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	G	4.511	0.094742	0.08681	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.32272	1.46	3.73	-0.297	0.12820	.	0.786170	0.12231	N	0.487482	T	0.10766	0.0263	N	0.03154	-0.405	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.22487	-1.0215	10	0.87932	D	0	.	0.6842	0.00880	0.2287:0.1921:0.3821:0.1971	.	241;108;241	B4DZM3;Q96J73;P56182	.;.;RRP1_HUMAN	D	241	ENSP00000417464:E241D	ENSP00000383237:E241D	E	+	3	2	RRP1	44042321	0.084000	0.21492	0.021000	0.16686	0.007000	0.05969	-0.095000	0.11077	0.039000	0.15632	-0.150000	0.13652	GAG			0.577	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195680.1		NM_003683	
DNMT3L	29947	broad.mit.edu	37	21	45679568	45679568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:45679568G>A	ENST00000418993.1	-	4	661	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	DNMT3L_ENST00000270172.3_Nonsense_Mutation_p.Q60*	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	60	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTGTGAACCTGGAGACTTCCG	0.517																																					p.Q60X													.	DNMT3L	33		0			c.C178T												76.0	70.0	72.0					21																	45679568		2201	4298	6499	SO:0001587	stop_gained	29947	exon4			GAACCTGGAGACT	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.178C>T	21.37:g.45679568G>A	ENSP00000412862:p.Gln60*		Somatic	195	0	0		WXS	Illumina HiSeq	Phase_I	299	0.02	6	NM_013369	1380	0.00	1	E9PB42|Q9BUJ4	Nonsense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494923	0.85069	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	.	.	.	4.36	3.4	0.38934	.	0.292848	0.33346	N	0.005002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-22.0	9.0065	0.36115	0.0:0.0:0.7795:0.2205	.	.	.	.	X	60;60;45	.	ENSP00000270172:Q60X	Q	-	1	0	DNMT3L	44503996	1.000000	0.71417	0.965000	0.40720	0.380000	0.30137	3.504000	0.53347	2.417000	0.82017	0.655000	0.94253	CAG			0.517	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000195820.1		NM_013369	
IL17RA	23765	mdanderson.org	37	22	17589847	17589847	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:17589847C>T	ENST00000319363.6	+	13	1871	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	580			R -> H (in dbSNP:rs17850765). {ECO:0000269|PubMed:15489334}.		cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTGGCAGGTCCGCTGTCCCGA	0.662																																					p.R580C													.	.			0			c.C1738T																																									SO:0001583	missense	23765	exon13			CAGGTCCGCTGTC	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1738C>T	22.37:g.17589847C>T	ENSP00000320936:p.Arg580Cys		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_014339	15	0.00	0	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775717	0.31411	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.05855	3.38	5.1	1.7	0.24286	.	0.968565	0.08528	N	0.932483	T	0.07773	0.0195	L	0.44542	1.39	0.09310	N	1	D;D	0.69078	0.996;0.997	B;P	0.47299	0.424;0.543	T	0.36286	-0.9754	10	0.72032	D	0.01	-13.8449	2.8486	0.05551	0.2365:0.4188:0.2542:0.0904	.	528;580	D3YTB4;Q96F46	.;I17RA_HUMAN	C	528;580	ENSP00000320936:R580C	ENSP00000320936:R580C	R	+	1	0	IL17RA	15969847	0.852000	0.29690	0.003000	0.11579	0.034000	0.12701	1.683000	0.37638	1.292000	0.44672	-0.221000	0.12465	CGC			0.662	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315820.1		NM_014339	
DGCR6	8214	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	18900987	18900987	+	IGR	SNP	G	G	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:18900987G>C	ENST00000331444.6	+	0	1214				PRODH_ENST00000420436.1_Missense_Mutation_p.L419V|PRODH_ENST00000357068.6_Missense_Mutation_p.L527V|PRODH_ENST00000334029.2_Missense_Mutation_p.L419V	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6						cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						ATGCCTAGCAGCTGTCCAAAG	0.627																																					p.L527V													.	PRODH	42		0			c.C1579G												81.0	64.0	70.0					22																	18900987		2200	4298	6498	SO:0001628	intergenic_variant	5625	exon14			CTAGCAGCTGTCC	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162		22.37:g.18900987G>C			Somatic	230	0.0086956522	2		WXS	Illumina HiSeq	Phase_I	190	0.47	90	NM_016335	434	0.48	210	B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	N	21.3	4.133011	0.77662	.	.	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.75050	-0.9	4.67	2.58	0.30949	Proline dehydrogenase (1);	0.086607	0.47852	N	0.000206	D	0.88291	0.6397	H	0.95645	3.7	0.48975	D	0.99973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87778	0.2610	10	0.87932	D	0	-27.0343	8.7765	0.34765	0.1884:0.0:0.8116:0.0	.	443;527;419	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	V	527;172	ENSP00000349577:L527V	ENSP00000318329:L172V	L	-	1	2	PRODH	17280987	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.598000	0.46223	0.520000	0.28426	0.505000	0.49811	CTG			0.627	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316631.2		NM_005675	
CLTCL1	8218	broad.mit.edu	37	22	19263276	19263276	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:19263276G>T	ENST00000263200.10	-	2	192	c.120C>A	c.(118-120)atC>atA	p.I40I	CLTCL1_ENST00000353891.5_Silent_p.I40I|CLTCL1_ENST00000427926.1_Silent_p.I40I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	40	Globular terminal domain.|WD40-like repeat 1.				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)			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)					CTTTCTCTCGGATACATATGA	0.453			T	?	ALCL																																p.I40I				Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	CLTCL1	115		0			c.C120A												63.0	62.0	63.0					22																	19263276		1968	4151	6119	SO:0001819	synonymous_variant	8218	exon2			CTCTCGGATACAT		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.120C>A	22.37:g.19263276G>T			Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	143	0.03	4	NM_001835	0		0	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																					0.453	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316397.5		NM_007098	
SCARF2	91179	mdanderson.org	37	22	20780271	20780271	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:20780271C>A	ENST00000266214.5	-	11	2111	c.2007G>T	c.(2005-2007)aaG>aaT	p.K669N	SCARF2_ENST00000405555.3_Missense_Mutation_p.K664N	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	669	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCCAGGACACCTTAGGCTTGG	0.751																																					p.K669N													SCARF2,middle_lobe,carcinoma,-1,1	SCARF2	-1	1	0			c.G2007T												19.0	22.0	21.0					22																	20780271		2201	4297	6498	SO:0001583	missense	91179	exon11			GGACACCTTAGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2007G>T	22.37:g.20780271C>A	ENSP00000266214:p.Lys669Asn		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	16	0.19	3	NM_153334	8	0.00	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591020	0.66219	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.24350	1.91;1.86	3.39	1.17	0.20885	.	0.073587	0.50627	U	0.000106	T	0.31670	0.0804	L	0.29908	0.895	0.23923	N	0.996451	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.05920	-1.0856	10	0.48119	T	0.1	.	7.5145	0.27593	0.0:0.7714:0.0:0.2286	.	664;664	E5RFB8;Q96GP6	.;SREC2_HUMAN	N	664;664;669	ENSP00000385589:K664N;ENSP00000266214:K669N	ENSP00000266214:K669N	K	-	3	2	SCARF2	19110271	0.998000	0.40836	1.000000	0.80357	0.926000	0.56050	0.393000	0.20817	0.251000	0.21505	0.447000	0.29281	AAG			0.751	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320047.1			
CABIN1	23523	broad.mit.edu	37	22	24480695	24480695	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:24480695G>T	ENST00000398319.2	+	21	3459	c.3074G>T	c.(3073-3075)aGc>aTc	p.S1025I	CABIN1_ENST00000405822.2_Missense_Mutation_p.S975I|CABIN1_ENST00000263119.5_Missense_Mutation_p.S1025I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1025					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAGCCCTTAGCCTGGACAAA	0.552																																					p.S1025I													.	CABIN1	153		0			c.G3074T												91.0	77.0	82.0					22																	24480695		2203	4300	6503	SO:0001583	missense	23523	exon21			CCCTTAGCCTGGA	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3074G>T	22.37:g.24480695G>T	ENSP00000381364:p.Ser1025Ile		Somatic	167	0.005988024	1		WXS	Illumina HiSeq	Phase_I	154	0.03	4	NM_001199281	22	0.00	0	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143016	0.57044	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.63580	0.15;-0.05;0.15	5.56	4.54	0.55810	.	0.189883	0.56097	D	0.000034	T	0.49423	0.1556	L	0.32530	0.975	0.80722	D	1	P;B	0.36909	0.573;0.437	B;B	0.36186	0.219;0.109	T	0.42582	-0.9443	10	0.16896	T	0.51	.	14.0605	0.64797	0.0727:0.0:0.9273:0.0	.	975;1025	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1025;975;1025	ENSP00000263119:S1025I;ENSP00000384694:S975I;ENSP00000381364:S1025I	ENSP00000263119:S1025I	S	+	2	0	CABIN1	22810695	1.000000	0.71417	0.986000	0.45419	0.521000	0.34408	3.234000	0.51320	1.505000	0.48720	0.650000	0.86243	AGC			0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320161.2		NM_012295	
ZNRF3	84133	mdanderson.org	37	22	29446834	29446834	+	Missense_Mutation	SNP	C	C	T	rs375016509	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:29446834C>T	ENST00000544604.2	+	8	2840	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	ZNRF3_ENST00000402174.1_Missense_Mutation_p.R789W|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R789W|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R789W	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	889					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGCCCTACTGCGGCCTGGCTG	0.706													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15339	0.0		0.0	False		,,,				2504	0.0				p.R889W													.	.			0			c.C2665T							C	TRP/ARG,TRP/ARG	2,3864		0,2,1931	10.0	12.0	11.0		2665,2365	-1.9	0.0	22		11	0,8224		0,0,4112	no	missense,missense	ZNRF3	NM_001206998.1,NM_032173.3	101,101	0,2,6043	TT,TC,CC		0.0,0.0517,0.0165	probably-damaging,probably-damaging	889/937,789/837	29446834	2,12088	1933	4112	6045	SO:0001583	missense	84133	exon8			CTACTGCGGCCTG	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2665C>T	22.37:g.29446834C>T	ENSP00000443824:p.Arg889Trp		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	26	0.08	2	NM_001206998	62	0.00	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	5.380	0.255273	0.10185	5.17E-4	0.0	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.09073	3.16;3.02;3.02;3.02	4.75	-1.93	0.07594	.	1.143190	0.06746	N	0.779226	T	0.06325	0.0163	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	B	0.44315	0.446	T	0.33471	-0.9867	10	0.66056	D	0.02	4.7171	4.8074	0.13326	0.3229:0.4553:0.0:0.2217	.	889	Q9ULT6	ZNRF3_HUMAN	W	889;789;596;789;789	ENSP00000443824:R889W;ENSP00000328614:R789W;ENSP00000384456:R789W;ENSP00000384553:R789W	ENSP00000328614:R789W	R	+	1	2	ZNRF3	27776834	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.151000	0.10175	-0.246000	0.09611	-0.218000	0.12543	CGG			0.706	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972	
SLC5A4	6527	broad.mit.edu	37	22	32620367	32620367	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:32620367G>T	ENST00000266086.4	-	13	1563	c.1552C>A	c.(1552-1554)Ccc>Acc	p.P518T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	518					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATAATCTTGGGACAGTTACTG	0.458																																					p.P518T													.	SLC5A4	82		0			c.C1552A												104.0	82.0	89.0					22																	32620367		2203	4300	6503	SO:0001583	missense	6527	exon13			TCTTGGGACAGTT	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1552C>A	22.37:g.32620367G>T	ENSP00000266086:p.Pro518Thr		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	175	0.02	4	NM_014227	0		0	O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368848	0.61624	.	.	ENSG00000100191	ENST00000266086	T	0.79653	-1.29	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94142	0.7398	10	0.87932	D	0	.	15.5222	0.75874	0.0:0.0:1.0:0.0	.	518	Q9NY91	SC5A4_HUMAN	T	518	ENSP00000266086:P518T	ENSP00000266086:P518T	P	-	1	0	SLC5A4	30950367	1.000000	0.71417	0.828000	0.32881	0.381000	0.30169	9.422000	0.97458	2.516000	0.84829	0.655000	0.94253	CCC			0.458	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315724.1		NM_014227	
LGALS2	3957	broad.mit.edu	37	22	37966694	37966694	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:37966694G>T	ENST00000215886.4	-	3	312	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	46	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					AGCGAGGGTTGAAATGCAGGT	0.547																																					p.F46L	GBM(193;1840 2185 13711 20676 24505)												.	LGALS2	16		0			c.C138A												140.0	125.0	130.0					22																	37966694		2203	4300	6503	SO:0001583	missense	3957	exon3			AGGGTTGAAATGC		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.138C>A	22.37:g.37966694G>T	ENSP00000215886:p.Phe46Leu		Somatic	150	0.0066666667	1		WXS	Illumina HiSeq	Phase_I	169	0.03	5	NM_006498	24	0.00	0	Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367445	0.82463	.	.	ENSG00000100079	ENST00000215886	T	0.06687	3.27	5.97	3.8	0.43715	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.133340	0.64402	D	0.000001	T	0.24812	0.0602	M	0.76727	2.345	0.46396	D	0.999028	D	0.89917	1.0	D	0.91635	0.999	T	0.00448	-1.1733	10	0.72032	D	0.01	-20.1527	7.7463	0.28871	0.0962:0.1665:0.7373:0.0	.	46	P05162	LEG2_HUMAN	L	46	ENSP00000215886:F46L	ENSP00000215886:F46L	F	-	3	2	LGALS2	36296640	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	2.191000	0.42640	0.700000	0.31782	0.655000	0.94253	TTC			0.547	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318991.1		NM_006498	
NOL12	79159	broad.mit.edu	37	22	38087248	38087248	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:38087248C>T	ENST00000359114.4	+	6	617	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	183						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)	p.R183W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					ACATCCCCGACGGGCCCAGGA	0.602																																					p.R183W													NOL12,NS,carcinoma,-1,2	NOL12	22	2	1	Substitution - Missense(1)	large_intestine(1)	c.C547T												72.0	67.0	69.0					22																	38087248		2203	4300	6503	SO:0001583	missense	79159	exon6			CCCCGACGGGCCC	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.547C>T	22.37:g.38087248C>T	ENSP00000352021:p.Arg183Trp		Somatic	324	0	0		WXS	Illumina HiSeq	Phase_I	320	0.01	4	NM_024313	142	0.00	0		Missense_Mutation	SNP	ENST00000359114.4	37	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703963	0.30232	.	.	ENSG00000256872	ENST00000359114	D	0.83914	-1.78	6.08	5.06	0.68205	.	0.159698	0.56097	D	0.000040	T	0.79902	0.4526	L	0.59436	1.845	0.09310	N	0.999999	P	0.49635	0.926	B	0.39660	0.306	T	0.74112	-0.3770	10	0.46703	T	0.11	-5.3093	14.9439	0.71014	0.1431:0.8569:0.0:0.0	.	183	Q9UGY1	NOL12_HUMAN	W	183	ENSP00000352021:R183W	ENSP00000352021:R183W	R	+	1	2	Z83844.2	36417194	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	1.037000	0.30241	1.583000	0.49898	-0.230000	0.12252	CGG			0.602	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319476.1		NM_024313	
TAB1	10454	mdanderson.org	37	22	39826224	39826224	+	Silent	SNP	G	G	A	rs375542675		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:39826224G>A	ENST00000216160.6	+	11	1574	c.1512G>A	c.(1510-1512)ccG>ccA	p.P504P	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	504					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGACAGCACCGTAGGGCAGCC	0.627																																					p.P504P													.	.			0			c.G1512A							G	,	0,4406		0,0,2203	92.0	73.0	79.0		1512,	-10.9	0.0	22		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	TAB1	NM_006116.2,NM_153497.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	504/505,	39826224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10454	exon11			AGCACCGTAGGGC	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1512G>A	22.37:g.39826224G>A			Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	31	0.10	3	NM_006116	28	0.00	0	Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	CCDS13993.1																																																																																					0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321313.1		NM_153497	
EP300-AS1	101927279	broad.mit.edu	37	22	41585696	41585697	+	RNA	INS	-	-	T	rs574135068		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:41585696_41585697insT	ENST00000420537.1	-	0	223																											cctgcTGGCCATTTTTTTTTTC	0.49																																					.													.	.			0			.																																											0	.			CTGGCCATTTTTT																													22.37:g.41585706_41585706dupT			Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	36	0.19	7	.	0		0		RNA	INS	ENST00000420537.1	37																																																																																						0.490	RP1-85F18.5-001	KNOWN	basic	antisense	antisense		OTTHUMT00000320612.1			
SREBF2	6721	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	22	42289198	42289198	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:42289198C>T	ENST00000361204.4	+	12	2452	c.2286C>T	c.(2284-2286)tgC>tgT	p.C762C	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	762					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTGGCTCTGCCACCCCCTGG	0.597																																					p.C762C													.	.			0			c.C2286T												60.0	62.0	61.0					22																	42289198		2203	4300	6503	SO:0001819	synonymous_variant	6721	exon12			GCTCTGCCACCCC	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2286C>T	22.37:g.42289198C>T			Somatic	72	0	0		WXS	Illumina HiSeq	.	94	0.05	5	NM_004599	95	0.00	0	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	CCDS14023.1																																																																																					0.597	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321956.1		NM_004599	
CYP2D6	1565	broad.mit.edu	37	22	42522918	42522918	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:42522918G>T	ENST00000360608.5	-	8	1364	c.1250C>A	c.(1249-1251)cCc>cAc	p.P417H	NDUFA6-AS1_ENST00000536447.2_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.P366H|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.P417H|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	417					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GAAGTGTTCGGGGTGGAAGCG	0.622																																					p.P417H													.	CYP2D6	104		0			c.C1250A												22.0	20.0	20.0					22																	42522918		2128	4182	6310	SO:0001583	missense	1565	exon8			TGTTCGGGGTGGA	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1250C>A	22.37:g.42522918G>T	ENSP00000353820:p.Pro417His		Somatic	346	0	0		WXS	Illumina HiSeq	Phase_I	372	0.01	5	NM_000106	4	0.00	0	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602363	0.87157	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	D;D;T	0.97161	-4.27;-4.27;3.92	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98914	1.0781	10	0.87932	D	0	.	17.9647	0.89097	0.0:0.0:1.0:0.0	.	417;366;417	C1ID54;Q6NXU8;Q6NWU0	.;.;.	H	417;417;363;366;366	ENSP00000353820:P417H;ENSP00000374620:P417H;ENSP00000351927:P366H	ENSP00000351927:P366H	P	-	2	0	CYP2D6	40852862	1.000000	0.71417	0.936000	0.37596	0.829000	0.46940	7.846000	0.86887	2.323000	0.78572	0.555000	0.69702	CCC			0.622	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320525.1			
SETMAR	6419	broad.mit.edu	37	3	4355265	4355266	+	Frame_Shift_Ins	INS	-	-	G	rs142449470	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:4355265_4355266insG	ENST00000358065.4	+	2	907_908	c.840_841insG	c.(841-843)gggfs	p.G281fs	SETMAR_ENST00000430981.1_Frame_Shift_Ins_p.G281fs|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	281	Histone-lysine N-methyltransferase.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCTAGATCATGGGAAACTAAG	0.406								Chromatin Structure																													p.H280fs													.	SETMAR	30		0			c.840_841insG																																									SO:0001589	frameshift_variant	6419	exon2			AGATCATGGGAAA	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.843dupG	3.37:g.4355268_4355268dupG	ENSP00000373354:p.Gly281fs		Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	375	0.01	5	NM_001276325	11	0.00	0	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Frame_Shift_Ins	INS	ENST00000358065.4	37	CCDS2563.2																																																																																					0.406	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206587.4		NM_006515	
PPARG	5468	broad.mit.edu	37	3	12447553	12447554	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:12447553_12447554insT	ENST00000287820.6	+	5	913_914	c.792_793insT	c.(793-795)ttgfs	p.L265fs	PPARG_ENST00000309576.6_Frame_Shift_Ins_p.L237fs|PPARG_ENST00000397026.2_Frame_Shift_Ins_p.L243fs|PPARG_ENST00000397015.2_Frame_Shift_Ins_p.L237fs|PPARG_ENST00000539812.1_Frame_Shift_Ins_p.L235fs|PPARG_ENST00000397012.2_Frame_Shift_Ins_p.L237fs|PPARG_ENST00000397010.2_Frame_Shift_Ins_p.L237fs|PPARG_ENST00000397000.1_Frame_Shift_Ins_p.L237fs	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	265	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CGAGGGCGATCTTGACAGGAAA	0.475			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																														p.I264fs				Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	.	PPARG	49		0			c.792_793insT																																									SO:0001589	frameshift_variant	5468	exon5			GGCGATCTTGACA	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.794dupT	3.37:g.12447555_12447555dupT	ENSP00000287820:p.Leu265fs		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	241	0.02	4	NM_015869	5	0.00	0	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Frame_Shift_Ins	INS	ENST00000287820.6	37	CCDS2609.1																																																																																					0.475	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251979.2		NM_005037	
IQSEC1	9922	broad.mit.edu	37	3	12977109	12977109	+	Silent	SNP	G	G	T	rs148022111	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:12977109G>T	ENST00000273221.4	-	3	1665	c.1449C>A	c.(1447-1449)atC>atA	p.I483I	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	483					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTGCAGTTGATGGTATCGT	0.587																																					p.I483I													.	IQSEC1	88		0			c.C1449A												175.0	157.0	163.0					3																	12977109		2202	4300	6502	SO:0001819	synonymous_variant	9922	exon3			GCAGTTGATGGTA	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1449C>A	3.37:g.12977109G>T			Somatic	125	0.016	2		WXS	Illumina HiSeq	Phase_I	152	0.03	5	NM_014869	5	0.00	0	O94863|Q96D85	Silent	SNP	ENST00000273221.4	37	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	7.545	0.661402	0.14645	.	.	ENSG00000144711	ENST00000450726	.	.	.	4.58	2.52	0.30459	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47394	-0.9121	4	.	.	.	.	5.8722	0.18809	0.0997:0.0:0.4069:0.4934	.	.	.	.	K	484	.	.	Q	-	1	0	IQSEC1	12952109	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.548000	0.36201	1.087000	0.41251	0.655000	0.94253	CAA			0.587	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339865.2		NM_014869	
ANKRD28	23243	broad.mit.edu	37	3	15731642	15731642	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:15731642G>T	ENST00000399451.2	-	18	2124	c.1757C>A	c.(1756-1758)cCc>cAc	p.P586H	ANKRD28_ENST00000383777.1_Missense_Mutation_p.P619H|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	586						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAGATCTAGGGGTGTTCTTCC	0.388																																					p.P586H													.	ANKRD28	121		0			c.C1757A												112.0	104.0	107.0					3																	15731642		1894	4130	6024	SO:0001583	missense	23243	exon18			TCTAGGGGTGTTC	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1757C>A	3.37:g.15731642G>T	ENSP00000382379:p.Pro586His		Somatic	207	0	0		WXS	Illumina HiSeq	Phase_I	284	0.02	7	NM_015199	21	0.00	0	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444489	0.83993	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.71461	-0.57;-0.57;-0.57	5.39	5.39	0.77823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.983;0.984	D	0.89304	0.3628	10	0.87932	D	0	.	19.1624	0.93539	0.0:0.0:1.0:0.0	.	619;616;586	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	H	586;619;586	ENSP00000382379:P586H;ENSP00000373287:P619H;ENSP00000397341:P586H	ENSP00000373287:P619H	P	-	2	0	ANKRD28	15706646	1.000000	0.71417	0.790000	0.31976	0.643000	0.38383	9.467000	0.97671	2.523000	0.85059	0.650000	0.86243	CCC			0.388	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339758.1		NM_015199	
ARPP21	10777	broad.mit.edu	37	3	35834022	35834022	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:35834022G>T	ENST00000187397.4	+	19	2637	c.2181G>T	c.(2179-2181)caG>caT	p.Q727H	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Splice_Site_p.Q708H|ARPP21_ENST00000417925.1_Splice_Site_p.Q728H|ARPP21_ENST00000458225.1_Splice_Site_p.Q728H|ARPP21_ENST00000444190.1_Splice_Site_p.Q708H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	727	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTTCTTATCAGGTGCTCATAA	0.478																																					p.Q728H													.	ARPP21	153		0			c.G2184T												127.0	112.0	117.0					3																	35834022		2203	4300	6503	SO:0001630	splice_region_variant	10777	exon18			TTATCAGGTGCTC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2181+1G>T	3.37:g.35834022G>T			Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	326	0.01	3	NM_001267619	0		0	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Splice_Site	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492066	0.84962	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.55052	1.05;0.54;0.54;1.2;1.05	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000004	T	0.74336	0.3703	M	0.74881	2.28	0.52099	D	0.99994	D;D;D;D	0.76494	0.998;0.998;0.997;0.999	D;D;D;D	0.85130	0.996;0.996;0.99;0.997	T	0.74665	-0.3589	10	0.54805	T	0.06	-10.4931	19.8449	0.96704	0.0:0.0:1.0:0.0	.	728;250;727;708	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	H	728;708;708;727;728	ENSP00000414351:Q728H;ENSP00000337792:Q708H;ENSP00000405276:Q708H;ENSP00000187397:Q727H;ENSP00000412326:Q728H	ENSP00000187397:Q727H	Q	+	3	2	ARPP21	35809026	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.539000	0.82063	2.680000	0.91292	0.655000	0.94253	CAG			0.478	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253334.2		NM_198399	Missense_Mutation
DCLK3	85443	broad.mit.edu	37	3	36779862	36779863	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:36779862_36779863insC	ENST00000416516.2	-	2	778_779	c.288_289insG	c.(286-291)gggaggfs	p.R97fs		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	97						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATTTCCCCCTCCCCCACTTCT	0.594																																					p.R97fs													DCLK3,NS,carcinoma,+2,1	DCLK3	95	1	0			c.289_290insG																																									SO:0001589	frameshift_variant	85443	exon2			TCCCCCTCCCCCA	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.289dupG	3.37:g.36779867_36779867dupC	ENSP00000394484:p.Arg97fs		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	287	0.02	6	NM_033403	4	0.00	0		Frame_Shift_Ins	INS	ENST00000416516.2	37	CCDS43064.1																																																																																					0.594	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341727.1		XM_047355	
ZNF35	7584	broad.mit.edu	37	3	44694153	44694153	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:44694153G>T	ENST00000396056.2	+	3	532	c.297G>T	c.(295-297)aaG>aaT	p.K99N	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000453164.1_Intron|ZNF35_ENST00000542250.1_Intron|ZNF35_ENST00000399560.2_Intron|ZNF35_ENST00000296092.3_Intron	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	99	Globular domain.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CTCTGGCCAAGAGTGAGATAC	0.478																																					p.K99N													.	ZNF35	34		0			c.G297T												113.0	106.0	109.0					3																	44694153		2203	4300	6503	SO:0001583	missense	7584	exon3			GGCCAAGAGTGAG	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.297G>T	3.37:g.44694153G>T	ENSP00000379368:p.Lys99Asn		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	159	0.02	3	NM_003420	12	0.00	0	B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654278	0.47467	.	.	ENSG00000169981	ENST00000396056;ENST00000415571;ENST00000432115	T	0.10005	2.92	3.8	3.8	0.43715	.	0.349089	0.20952	N	0.082733	T	0.08492	0.0211	L	0.27053	0.805	0.80722	D	1	B	0.23058	0.079	B	0.18871	0.023	T	0.13602	-1.0503	10	0.59425	D	0.04	-7.0889	11.4785	0.50312	0.0:0.0:1.0:0.0	.	99	P13682	ZNF35_HUMAN	N	99	ENSP00000379368:K99N	ENSP00000379368:K99N	K	+	3	2	ZNF35	44669157	0.998000	0.40836	0.912000	0.35992	0.995000	0.86356	0.961000	0.29267	2.393000	0.81446	0.655000	0.94253	AAG			0.478	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256749.4		NM_003420	
KIF15	56992	broad.mit.edu	37	3	44828007	44828007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:44828007G>T	ENST00000326047.4	+	7	729	c.580G>T	c.(580-582)Gga>Tga	p.G194*		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	194	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TATCAAGAAGGGAGTCTTTGT	0.458																																					p.G194X													.	KIF15	103		0			c.G580T												132.0	126.0	128.0					3																	44828007		2203	4300	6503	SO:0001587	stop_gained	56992	exon7			AAGAAGGGAGTCT	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.580G>T	3.37:g.44828007G>T	ENSP00000324020:p.Gly194*		Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	229	0.02	4	NM_020242	10	0.00	0	Q17RV9|Q69YL6|Q96JX7|Q9H280	Nonsense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	39	7.326535	0.98214	.	.	ENSG00000163808	ENST00000326047;ENST00000396031	.	.	.	5.85	5.85	0.93711	.	0.000000	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	.	.	.	X	194;193	.	ENSP00000324020:G194X	G	+	1	0	KIF15	44803011	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	GGA			0.458	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343831.2			
ALS2CL	259173	broad.mit.edu	37	3	46713682	46713682	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:46713682G>T	ENST00000318962.4	-	23	2565	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M	ALS2CL_ENST00000383742.3_Missense_Mutation_p.L175M|ALS2CL_ENST00000415953.1_Missense_Mutation_p.L828M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	828	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCCCTGACCAGGGAGTACCTC	0.647																																					p.L828M													.	ALS2CL	78		0			c.C2482A												121.0	94.0	103.0					3																	46713682		2203	4300	6503	SO:0001583	missense	259173	exon23			TGACCAGGGAGTA	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2482C>A	3.37:g.46713682G>T	ENSP00000313670:p.Leu828Met		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	286	0.01	4	NM_001190707	18	0.00	0	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288910	0.40494	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.56444	0.46;0.46;0.87	5.69	3.89	0.44902	Vacuolar sorting protein 9 (1);	0.148836	0.32002	N	0.006728	T	0.59487	0.2197	L	0.43152	1.355	0.36692	D	0.879633	D	0.76494	0.999	D	0.66716	0.946	T	0.65088	-0.6253	10	0.48119	T	0.1	.	8.953	0.35801	0.1751:0.0:0.8249:0.0	.	828	Q60I27	AL2CL_HUMAN	M	828;828;175	ENSP00000313670:L828M;ENSP00000413223:L828M;ENSP00000373248:L175M	ENSP00000313670:L828M	L	-	1	2	ALS2CL	46688686	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	5.329000	0.65892	1.408000	0.46895	0.650000	0.86243	CTG			0.647	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250567.3		NM_147129	
CCDC12	151903	broad.mit.edu	37	3	47018230	47018230	+	5'UTR	SNP	G	G	A	rs530541908		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:47018230G>A	ENST00000546280.1	-	0	40				NBEAL2_ENST00000450053.3_5'Flank|CCDC12_ENST00000292314.2_Missense_Mutation_p.A11V|CCDC12_ENST00000425441.1_Missense_Mutation_p.A11V|NBEAL2_ENST00000383740.2_5'Flank|CCDC12_ENST00000605358.1_5'Flank|NBEAL2_ENST00000292309.5_5'Flank	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12											endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CATCTTGCCCGCGTACGCCCC	0.612																																					p.E11V													.	CCDC12	9		0			c.A32T												57.0	49.0	51.0					3																	47018230		2202	4300	6502	SO:0001623	5_prime_UTR_variant	151903	exon2			TTGCCCGCGTACG	BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.-8C>T	3.37:g.47018230G>A			Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	151	0.03	4	NM_144716	49	0.02	1	Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.158694	0.78226	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000446836	.	.	.	4.94	-9.85	0.00476	.	.	.	.	.	T	0.11665	0.0284	N	0.08118	0	0.21147	N	0.999779	.	.	.	.	.	.	T	0.13980	-1.0489	6	0.17832	T	0.49	.	4.2404	0.10645	0.5333:0.2243:0.1495:0.0928	.	.	.	.	V	11	.	ENSP00000292314:A11V	A	-	2	0	CCDC12	46993234	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.932000	0.03963	-1.862000	0.01151	-0.253000	0.11424	GCG			0.612	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_144716	
NBEAL2	23218	hgsc.bcm.edu;broad.mit.edu	37	3	47045654	47045656	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:47045654_47045656delTCT	ENST00000450053.3	+	37	6148_6150	c.5969_5971delTCT	c.(5968-5973)ctcttc>ctc	p.F1992del	NBEAL2_ENST00000383740.2_In_Frame_Del_p.F271del|NBEAL2_ENST00000292309.5_In_Frame_Del_p.F1808del	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1992					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCACTTGAGCTCTTCTTTATCGA	0.601																																					p.1990_1990del													.	NBEAL2	267		0			c.5968_5970del																																									SO:0001651	inframe_deletion	23218	exon37			TTGAGCTCTTCTT	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5969_5971delTCT	3.37:g.47045657_47045659delTCT	ENSP00000415034:p.Phe1992del		Somatic	113	0	0		WXS	Illumina HiSeq	.	163	0.08	13	NM_015175	35	0.00	0	O60288|Q6P994|Q6UX91|Q8NAC9	In_Frame_Del	DEL	ENST00000450053.3	37	CCDS46817.1																																																																																					0.601	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344363.3		XM_291064	
NCKIPSD	51517	broad.mit.edu	37	3	48717114	48717114	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:48717114G>T	ENST00000294129.2	-	8	1502	c.1383C>A	c.(1381-1383)ctC>ctA	p.L461L	NCKIPSD_ENST00000341520.4_Silent_p.L461L|NCKIPSD_ENST00000416649.2_Silent_p.L454L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	461	Leu-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAAGCACTTGAGGAGCAGCA	0.597																																					p.L461L													.	NCKIPSD	52		0			c.C1383A												88.0	79.0	82.0					3																	48717114		2203	4300	6503	SO:0001819	synonymous_variant	51517	exon8			GCACTTGAGGAGC	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1383C>A	3.37:g.48717114G>T			Somatic	155	0.0064516129	1		WXS	Illumina HiSeq	Phase_I	207	0.03	6	NM_016453	71	0.01	1	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	ENST00000294129.2	37	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	8.606	0.887950	0.17540	.	.	ENSG00000213672	ENST00000415281	.	.	.	4.91	1.9	0.25705	.	.	.	.	.	T	0.58119	0.2100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53330	-0.8454	4	.	.	.	.	9.3386	0.38065	0.0887:0.5011:0.4102:0.0	.	.	.	.	K	197	.	.	Q	-	1	0	NCKIPSD	48692118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.071000	0.41500	0.751000	0.32900	0.655000	0.94253	CAA			0.597	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257520.1		NM_016453	
USP19	10869	broad.mit.edu	37	3	49146487	49146487	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:49146487G>T	ENST00000398888.2	-	26	4179	c.3861C>A	c.(3859-3861)ggC>ggA	p.G1287G	USP19_ENST00000398892.3_Silent_p.G1327G|USP19_ENST00000453664.1_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000434032.2_Silent_p.G1388G|USP19_ENST00000398898.2_Intron|USP19_ENST00000417901.1_Intron	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1287					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCGGAGGCAGCCCTCATCTG	0.662																																					p.G1388G													.	USP19	158		0			c.C4164A												24.0	32.0	29.0					3																	49146487		2112	4225	6337	SO:0001819	synonymous_variant	10869	exon27			GAGGCAGCCCTCA	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3861C>A	3.37:g.49146487G>T			Somatic	215	0.0093023256	2		WXS	Illumina HiSeq	Phase_I	328	0.02	5	NM_001199160	18	0.00	0	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	CCDS43090.1																																																																																					0.662	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000257721.1		NM_006677	
LAMB2	3913	broad.mit.edu	37	3	49162818	49162818	+	Missense_Mutation	SNP	C	C	T	rs146326783	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:49162818C>T	ENST00000418109.1	-	20	2752	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R863H|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	863	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGCTGGCAGCGGTCACAGCG	0.622																																					p.R863H													.	LAMB2	156		0			c.G2588A							C	HIS/ARG	7,4399	11.4+/-27.6	0,7,2196	66.0	64.0	65.0		2588	-0.6	1.0	3	dbSNP_134	65	0,8600		0,0,4300	yes	missense	LAMB2	NM_002292.3	29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	863/1799	49162818	7,12999	2203	4300	6503	SO:0001583	missense	3913	exon19			TGGCAGCGGTCAC		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2588G>A	3.37:g.49162818C>T	ENSP00000388325:p.Arg863His		Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	313	0.01	3	NM_002292	15	0.00	0	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282668	0.40394	0.001589	0.0	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.64260	-0.09;-0.09	6.08	-0.571	0.11749	EGF-like, laminin (4);	0.289574	0.37761	N	0.001959	T	0.51719	0.1691	L	0.52126	1.63	0.42455	D	0.992766	B	0.09022	0.002	B	0.12156	0.007	T	0.43686	-0.9376	10	0.44086	T	0.13	.	11.1302	0.48343	0.0:0.5126:0.0:0.4874	.	863	P55268	LAMB2_HUMAN	H	863	ENSP00000388325:R863H;ENSP00000307156:R863H	ENSP00000307156:R863H	R	-	2	0	LAMB2	49137822	0.002000	0.14202	0.991000	0.47740	0.991000	0.79684	-0.731000	0.04909	-0.168000	0.10853	-0.136000	0.14681	CGC			0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345939.1		NM_002292	
BSN	8927	broad.mit.edu	37	3	49690876	49690876	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:49690876C>T	ENST00000296452.4	+	5	4001	c.3887C>T	c.(3886-3888)gCa>gTa	p.A1296V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1296					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGAGAGTGCATACATGGAC	0.552																																					p.A1296V													.	BSN	272		0			c.C3887T												62.0	64.0	63.0					3																	49690876		2203	4300	6503	SO:0001583	missense	8927	exon5			AGAGTGCATACAT	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3887C>T	3.37:g.49690876C>T	ENSP00000296452:p.Ala1296Val		Somatic	191	0.0261780105	5		WXS	Illumina HiSeq	Phase_I	275	0.03	9	NM_003458	0		0	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987538	0.53934	.	.	ENSG00000164061	ENST00000296452	T	0.26660	1.72	5.06	4.19	0.49359	.	0.062950	0.64402	N	0.000013	T	0.31327	0.0793	M	0.77313	2.365	0.50813	D	0.999899	B	0.26845	0.161	B	0.25884	0.064	T	0.08764	-1.0706	10	0.34782	T	0.22	.	13.5975	0.61998	0.0:0.9244:0.0:0.0756	.	1296	Q9UPA5	BSN_HUMAN	V	1296	ENSP00000296452:A1296V	ENSP00000296452:A1296V	A	+	2	0	BSN	49665880	1.000000	0.71417	0.871000	0.34182	0.994000	0.84299	6.083000	0.71326	1.137000	0.42214	0.462000	0.41574	GCA			0.552	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000258164.1		NM_003458	
SEMA3F	6405	broad.mit.edu	37	3	50211240	50211240	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:50211240G>T	ENST00000002829.3	+	3	611	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C	SEMA3F_ENST00000413852.1_5'UTR|SEMA3F_ENST00000434342.1_Missense_Mutation_p.G43C|MIR566_ENST00000385187.1_RNA	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	43	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GAAGGCCACAGGCACCGCCCA	0.572																																					p.G43C													.	SEMA3F	62		0			c.G127T												126.0	101.0	109.0					3																	50211240		2203	4300	6503	SO:0001583	missense	6405	exon3			GCCACAGGCACCG	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.127G>T	3.37:g.50211240G>T	ENSP00000002829:p.Gly43Cys		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	191	0.03	5	NM_004186	2	0.00	0	C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489012	0.44249	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000002829;ENST00000426511;ENST00000434342;ENST00000420831	T;T;T;T;T;T	0.49720	1.86;1.86;1.86;1.86;1.86;0.77	5.25	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.67953	2.075	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.69142	0.928;0.962	T	0.68981	-0.5266	10	0.72032	D	0.01	.	13.7817	0.63087	0.0751:0.0:0.9249:0.0	.	43;43	C9JQ85;Q13275	.;SEM3F_HUMAN	C	43;43;43;43;43;1	ENSP00000392588:G43C;ENSP00000398399:G43C;ENSP00000002829:G43C;ENSP00000400549:G43C;ENSP00000409859:G43C;ENSP00000416356:G1C	ENSP00000002829:G43C	G	+	1	0	SEMA3F	50186244	1.000000	0.71417	0.798000	0.32154	0.001000	0.01503	7.802000	0.85969	1.361000	0.45981	-0.136000	0.14681	GGC			0.572	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345929.1		NM_004186	
STAB1	23166	broad.mit.edu	37	3	52539151	52539151	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:52539151G>T	ENST00000321725.6	+	13	1586	c.1510G>T	c.(1510-1512)Gat>Tat	p.D504Y		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	504					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GACCCCTGGGGATCCCAAGGT	0.612																																					p.D504Y													STAB1,NS,malignant_melanoma,0,1	STAB1	178	1	0			c.G1510T												59.0	67.0	64.0					3																	52539151		2203	4300	6503	SO:0001583	missense	23166	exon13			CCTGGGGATCCCA	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1510G>T	3.37:g.52539151G>T	ENSP00000312946:p.Asp504Tyr		Somatic	175	0	0		WXS	Illumina HiSeq	Phase_I	209	0.02	5	NM_015136	0		0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985995	0.74589	.	.	ENSG00000010327	ENST00000321725	D	0.85773	-2.03	5.46	5.46	0.80206	FAS1 domain (1);	0.237542	0.36134	N	0.002775	D	0.85986	0.5825	N	0.24115	0.695	0.40498	D	0.980618	D;D	0.69078	0.997;0.993	P;D	0.63113	0.905;0.911	D	0.88031	0.2775	10	0.72032	D	0.01	.	14.8512	0.70297	0.0:0.0:1.0:0.0	.	504;504	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	Y	504	ENSP00000312946:D504Y	ENSP00000312946:D504Y	D	+	1	0	STAB1	52514191	0.925000	0.31364	0.977000	0.42913	0.686000	0.39977	1.690000	0.37711	2.582000	0.87167	0.650000	0.86243	GAT			0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351380.2		NM_015136	
IL17RB	55540	broad.mit.edu	37	3	53889325	53889325	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:53889325C>T	ENST00000288167.3	+	6	495	c.486C>T	c.(484-486)tgC>tgT	p.C162C		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	162					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TTCCAGGCTGCCTAGACCACA	0.393																																					p.C162C													.	IL17RB	27		0			c.C486T												38.0	39.0	39.0					3																	53889325		2203	4300	6503	SO:0001819	synonymous_variant	55540	exon6			AGGCTGCCTAGAC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.486C>T	3.37:g.53889325C>T			Somatic	226	0	0		WXS	Illumina HiSeq	Phase_I	322	0.01	4	NM_018725	2	0.00	0	Q9BPZ0|Q9NRL4|Q9NRM5	Silent	SNP	ENST00000288167.3	37	CCDS2874.1																																																																																					0.393	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350563.1		NM_172234	
SLMAP	7871	broad.mit.edu	37	3	57857388	57857388	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:57857388G>T	ENST00000428312.1	+	12	1306	c.1212G>T	c.(1210-1212)ggG>ggT	p.G404G	SLMAP_ENST00000295951.3_Silent_p.G387G|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000383718.3_Intron|SLMAP_ENST00000295952.3_Silent_p.G387G			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	404					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGAGTGGCGGGGACTGCACTT	0.363																																					p.G387G													.	SLMAP	46		0			c.G1161T												90.0	95.0	94.0					3																	57857388		2203	4300	6503	SO:0001819	synonymous_variant	7871	exon11			TGGCGGGGACTGC	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1212G>T	3.37:g.57857388G>T			Somatic	198	0.0050505051	1		WXS	Illumina HiSeq	Phase_I	263	0.01	3	NM_007159	0		0	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37																																																																																						0.363	SLMAP-013	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351584.1		NM_007159	
DNASE1L3	1776	broad.mit.edu	37	3	58183671	58183671	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:58183671C>T	ENST00000394549.2	-	6	897	c.581G>A	c.(580-582)tGc>tAc	p.C194Y	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.C194Y|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.C194Y|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.C164Y	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	194					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GACGTAGCTGCAGCCGGCATT	0.517																																					p.C194Y	Esophageal Squamous(96;1069 1424 4841 43466 52325)												.	DNASE1L3	36		0			c.G581A												82.0	80.0	80.0					3																	58183671		2203	4300	6503	SO:0001583	missense	1776	exon6			TAGCTGCAGCCGG	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.581G>A	3.37:g.58183671C>T	ENSP00000378053:p.Cys194Tyr		Somatic	125	0.008	1		WXS	Illumina HiSeq	Phase_I	204	0.02	4	NM_004944	0		0	B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807358	0.90623	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.25	5.25	0.73442	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83703	0.0183	10	0.72032	D	0.01	.	19.0335	0.92967	0.0:1.0:0.0:0.0	.	164;194;194	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	Y	164;194;194;194;68;194	ENSP00000419052:C164Y;ENSP00000316193:C194Y;ENSP00000417047:C194Y;ENSP00000417976:C68Y;ENSP00000378053:C194Y	ENSP00000316193:C194Y	C	-	2	0	DNASE1L3	58158711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.738000	0.93877	0.591000	0.81541	TGC			0.517	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353533.1		NM_004944	
KBTBD8	84541	broad.mit.edu	37	3	67054481	67054481	+	Missense_Mutation	SNP	G	G	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:67054481G>C	ENST00000417314.2	+	3	1139	c.1090G>C	c.(1090-1092)Gat>Cat	p.D364H	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.D338H			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	364						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTGGATGTATGATCATTCCAC	0.443																																					p.D364H													.	KBTBD8	101		0			c.G1090C												135.0	123.0	127.0					3																	67054481		2203	4300	6503	SO:0001583	missense	84541	exon3			ATGTATGATCATT	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1090G>C	3.37:g.67054481G>C	ENSP00000401878:p.Asp364His		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	201	0.02	5	NM_032505	4	0.00	0	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194211	0.78902	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	D;D	0.88354	-2.37;-2.37	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.043606	0.85682	D	0.000000	D	0.91744	0.7389	L	0.48642	1.525	0.80722	D	1	D	0.53462	0.96	P	0.59948	0.866	D	0.90290	0.4322	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	364	Q8NFY9	KBTB8_HUMAN	H	338;364	ENSP00000295568:D338H;ENSP00000401878:D364H	.	D	+	1	0	KBTBD8	67137171	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.772000	0.98984	2.676000	0.91093	0.557000	0.71058	GAT			0.443	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352189.1		NM_032505	
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																					.													.	.			0			.																																											0	.			TCCCAGAAAAAAA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	6	0.50	3	.	0		0		RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000352776.2			
OR5H1	26341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	97852456	97852456	+	Missense_Mutation	SNP	A	A	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:97852456A>C	ENST00000354565.2	+	1	915	c.915A>C	c.(913-915)ttA>ttC	p.L305F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H308fs*3(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CAAAAATGTTAAAAAAACATG	0.323																																					p.L305F													.	.			1	Insertion - Frameshift(1)	large_intestine(1)	c.A915C												55.0	60.0	58.0					3																	97852456		2201	4298	6499	SO:0001583	missense	26341	exon1			AATGTTAAAAAAA	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.915A>C	3.37:g.97852456A>C	ENSP00000346575:p.Leu305Phe		Somatic	90	0	0		WXS	Illumina HiSeq	.	133	0.16	21	NM_001005338	0		0		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	2.825	-0.243898	0.05906	.	.	ENSG00000231192	ENST00000354565	T	0.42131	0.98	3.48	0.982	0.19762	.	0.284658	0.19339	N	0.116688	T	0.25791	0.0628	L	0.31926	0.97	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.13980	-1.0489	10	0.37606	T	0.19	.	3.2002	0.06647	0.5461:0.2165:0.2374:0.0	.	305	A6NKK0	OR5H1_HUMAN	F	305	ENSP00000346575:L305F	ENSP00000346575:L305F	L	+	3	2	OR5H1	99335146	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.438000	0.06905	0.020000	0.15106	-1.355000	0.01225	TTA			0.323	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359100.2		NM_001005338	
CMSS1	84319	broad.mit.edu	37	3	99881276	99881276	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:99881276G>T	ENST00000421999.2	+	4	501	c.355G>T	c.(355-357)Gac>Tac	p.D119Y	CMSS1_ENST00000489081.1_Splice_Site_p.D101Y	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	119							poly(A) RNA binding (GO:0044822)										GAACCTGCCAGGTATAGCCAA	0.423																																					p.D119Y													.	.			0			c.G355T												75.0	78.0	77.0					3																	99881276		2203	4300	6503	SO:0001630	splice_region_variant	84319	exon4			CTGCCAGGTATAG		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.355+1G>T	3.37:g.99881276G>T			Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	229	0.01	3	NM_032359	392	0.00	0	A8K5S7|B4DUM1|E9PHS3	Splice_Site	SNP	ENST00000421999.2	37	CCDS2935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.146753|4.146753	0.77888|0.77888	.|.	.|.	ENSG00000184220|ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909|ENST00000497345	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.087408|.	0.85682|.	D|.	0.000000|.	T|T	0.73048|0.73048	0.3537|0.3537	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.69320|0.69320	-0.5176|-0.5176	9|5	.|.	.|.	.|.	.|.	18.6822|18.6822	0.91549|0.91549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119|.	Q9BQ75|.	CC026_HUMAN|.	Y|I	119;101;75|27	ENSP00000410396:D119Y;ENSP00000419161:D101Y;ENSP00000417293:D75Y|.	.|.	D|R	+|+	1|2	0|0	C3orf26|C3orf26	101363966|101363966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.309000|7.309000	0.78937|0.78937	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GAC|AGA			0.423	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353060.1		NM_032359	Missense_Mutation
TFG	10342	broad.mit.edu	37	3	100455557	100455558	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:100455557_100455558insA	ENST00000240851.4	+	6	1058_1059	c.718_719insA	c.(718-720)gaafs	p.E240fs	TFG_ENST00000418917.2_Intron|TFG_ENST00000476228.1_Intron|TFG_ENST00000490574.1_Frame_Shift_Ins_p.E240fs	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	240					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AGGTCAGATTGAAGGTAAAATA	0.446			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																p.E240fs				Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	.	TFG	42		0			c.718_719insA																																									SO:0001589	frameshift_variant	10342	exon6			CAGATTGAAGGTA	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.720dupA	3.37:g.100455559_100455559dupA	ENSP00000240851:p.Glu240fs		Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	292	0.02	7	NM_001007565	197	0.00	0	D3DN49|G5E9V1|Q15656|Q969I2	Frame_Shift_Ins	INS	ENST00000240851.4	37	CCDS2939.1																																																																																					0.446	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353242.1		NM_006070	
NFKBIZ	64332	broad.mit.edu	37	3	101574033	101574033	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:101574033G>T	ENST00000326172.5	+	7	1686	c.1571G>T	c.(1570-1572)gGc>gTc	p.G524V	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G424V|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G402V	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	524	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GCTGAGAAGGGCCACTCCCAG	0.517																																					p.G524V													.	NFKBIZ	55		0			c.G1571T												74.0	79.0	77.0					3																	101574033		2203	4300	6503	SO:0001583	missense	64332	exon7			AGAAGGGCCACTC	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1571G>T	3.37:g.101574033G>T	ENSP00000325663:p.Gly524Val		Somatic	184	0.0054347826	1		WXS	Illumina HiSeq	Phase_I	271	0.01	3	NM_031419	0		0	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333706	0.81801	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87888	0.6291	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.991;0.998	D	0.89518	0.3776	10	0.87932	D	0	-21.3353	19.922	0.97089	0.0:0.0:1.0:0.0	.	402;524	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	V	424;424;402;524	ENSP00000419800:G424V;ENSP00000377618:G424V;ENSP00000325593:G402V;ENSP00000325663:G524V	ENSP00000325593:G402V	G	+	2	0	NFKBIZ	103056723	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.399000	0.97285	2.780000	0.95670	0.655000	0.94253	GGC			0.517	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000353793.1		NM_031419	
ATP6V1A	523	broad.mit.edu	37	3	113513972	113513972	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:113513972G>T	ENST00000273398.3	+	10	1255	c.1147G>T	c.(1147-1149)Gcc>Tcc	p.A383S	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A350S	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	383					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)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TGCCCGTCTGGCCTCGTTTTA	0.443																																					p.A383S													.	ATP6V1A	71		0			c.G1147T												59.0	60.0	60.0					3																	113513972		2203	4300	6503	SO:0001583	missense	523	exon10			CGTCTGGCCTCGT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1147G>T	3.37:g.113513972G>T	ENSP00000273398:p.Ala383Ser		Somatic	129	0.007751938	1		WXS	Illumina HiSeq	Phase_I	168	0.04	6	NM_001690	11	0.00	0	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288860	0.95517	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.79940	-1.32;-1.32	5.8	5.8	0.92144	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	L	0.46819	1.47	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.87477	0.2418	10	0.62326	D	0.03	-14.2885	20.0693	0.97712	0.0:0.0:1.0:0.0	.	383	P38606	VATA_HUMAN	S	100;383;350	ENSP00000273398:A383S;ENSP00000439874:A350S	ENSP00000273398:A383S	A	+	1	0	ATP6V1A	114996662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	GCC			0.443	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354457.1		NM_001690	
ZNF80	7634	broad.mit.edu	37	3	113956064	113956064	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:113956064G>T	ENST00000482457.2	-	0	361				RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				gagtgttacagctcttaaggt	0.527																																					.	GBM(23;986 1114 21716)												.	ZNF80	75		0			.																																											7634	.			GTTACAGCTCTTA	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.-143C>A	3.37:g.113956064G>T			Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	72	0.04	3	.	0		0	Q6NSW4|Q6NT14	Translation_Start_Site	SNP	ENST00000482457.2	37	CCDS2979.1																																																																																					0.527	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354696.2		NM_007136	
STXBP5L	9515	broad.mit.edu	37	3	120764286	120764286	+	Missense_Mutation	SNP	C	C	T	rs375292809		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:120764286C>T	ENST00000273666.6	+	5	645	c.374C>T	c.(373-375)gCc>gTc	p.A125V	STXBP5L_ENST00000471454.1_Missense_Mutation_p.A125V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A125V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A125V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A125V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	125					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTCTAGGGTGCCTTGGTCAGT	0.353																																					p.A125V													STXBP5L,colon,carcinoma,0,2	STXBP5L	159	2	0			c.C374T							C	VAL/ALA	1,3687		0,1,1843	167.0	161.0	163.0		374	5.4	1.0	3		163	0,8172		0,0,4086	no	missense	STXBP5L	NM_014980.2	64	0,1,5929	TT,TC,CC		0.0,0.0271,0.0084	probably-damaging	125/1187	120764286	1,11859	1844	4086	5930	SO:0001583	missense	9515	exon5			AGGGTGCCTTGGT	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.374C>T	3.37:g.120764286C>T	ENSP00000273666:p.Ala125Val		Somatic	202	0	0		WXS	Illumina HiSeq	Phase_I	282	0.01	4	NM_014980	0		0	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440950	0.96168	2.71E-4	0.0	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.52754	0.65;1.66;0.65;0.65;1.66;0.75;1.66	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.86573	2.825	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.69752	-0.5060	10	0.18276	T	0.48	-12.0368	18.2281	0.89924	0.0:1.0:0.0:0.0	.	125;125	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	125	ENSP00000273666:A125V;ENSP00000420019:A125V;ENSP00000419627:A125V;ENSP00000420287:A125V;ENSP00000420666:A125V;ENSP00000419404:A125V;ENSP00000420167:A125V	ENSP00000273666:A125V	A	+	2	0	STXBP5L	122246976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.958000	0.76025	2.543000	0.85770	0.655000	0.94253	GCC			0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355256.3			
POLQ	10721	broad.mit.edu	37	3	121207058	121207058	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:121207058C>A	ENST00000264233.5	-	16	4848	c.4720G>T	c.(4720-4722)Gat>Tat	p.D1574Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1574					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGAAATATATCCACATTGTCC	0.383								DNA polymerases (catalytic subunits)																													p.D1574Y	Pancreas(152;907 1925 26081 31236 36904)												.	POLQ	273		0			c.G4720T												99.0	95.0	97.0					3																	121207058		2203	4300	6503	SO:0001583	missense	10721	exon16			ATATATCCACATT	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4720G>T	3.37:g.121207058C>A	ENSP00000264233:p.Asp1574Tyr		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	137	0.04	5	NM_199420	3	0.00	0	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	6.790	0.514787	0.12944	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.51325	0.71	5.65	2.85	0.33270	.	1.034330	0.07590	N	0.921873	T	0.44117	0.1278	L	0.27053	0.805	0.09310	N	1	D;D	0.59767	0.979;0.986	P;P	0.54100	0.707;0.742	T	0.27297	-1.0078	10	0.62326	D	0.03	.	2.743	0.05259	0.2586:0.4716:0.1255:0.1443	.	1574;746	O75417;O75417-2	DPOLQ_HUMAN;.	Y	1197;1574;1710	ENSP00000264233:D1574Y	ENSP00000264233:D1574Y	D	-	1	0	POLQ	122689748	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.382000	0.20635	0.459000	0.27016	0.655000	0.94253	GAT			0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355097.1		NM_199420	
CASR	846	broad.mit.edu	37	3	121980486	121980486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:121980486G>T	ENST00000490131.1	+	4	976	c.604G>T	c.(604-606)Gag>Tag	p.E202*	CASR_ENST00000498619.1_Nonsense_Mutation_p.E202*|CASR_ENST00000296154.5_Nonsense_Mutation_p.E202*	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	202					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGACATCATCGAGTATTTCCG	0.527																																					p.E202X													.	CASR	190		0			c.G604T												122.0	129.0	127.0					3																	121980486		2203	4300	6503	SO:0001587	stop_gained	846	exon4			ATCATCGAGTATT	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.604G>T	3.37:g.121980486G>T	ENSP00000418685:p.Glu202*		Somatic	169	0.0118343195	2		WXS	Illumina HiSeq	Phase_I	249	0.02	5	NM_001178065	0		0	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Nonsense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381907	0.95967	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	.	.	.	5.78	5.78	0.91487	.	0.097898	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000296154:E202X	E	+	1	0	CASR	123463176	1.000000	0.71417	0.967000	0.41034	0.728000	0.41692	9.813000	0.99286	2.894000	0.99253	0.591000	0.81541	GAG			0.527	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355761.1		NM_000388	
KPNA1	3836	broad.mit.edu	37	3	122168466	122168466	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:122168466G>A	ENST00000344337.6	-	9	1048	c.872C>T	c.(871-873)gCg>gTg	p.A291V	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	291	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATCGATGACCGCTTGAATTTT	0.453																																					p.A291V	Melanoma(12;340 801 11196 19797)												.	KPNA1	42		0			c.C872T												88.0	81.0	84.0					3																	122168466		2203	4300	6503	SO:0001583	missense	3836	exon9			ATGACCGCTTGAA	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.872C>T	3.37:g.122168466G>A	ENSP00000343701:p.Ala291Val		Somatic	371	0.0053908356	2		WXS	Illumina HiSeq	Phase_I	495	0.01	4	NM_002264	49	0.00	0	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461684	0.84425	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.71817	-0.6;-0.6	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.66378	2.025	0.80722	D	1	P	0.44986	0.847	B	0.35278	0.199	T	0.72959	-0.4133	10	0.46703	T	0.11	-15.1028	17.703	0.88301	0.0:0.0:1.0:0.0	.	291	P52294	IMA1_HUMAN	V	291	ENSP00000343701:A291V;ENSP00000419890:A291V	ENSP00000343701:A291V	A	-	2	0	KPNA1	123651156	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.263000	0.95617	2.644000	0.89710	0.563000	0.77884	GCG			0.453	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355740.1		NM_002264	
ADCY5	111	broad.mit.edu	37	3	123010141	123010141	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:123010141G>T	ENST00000462833.1	-	18	4358	c.3146C>A	c.(3145-3147)gCc>gAc	p.A1049D	ADCY5_ENST00000491190.1_Missense_Mutation_p.A707D|ADCY5_ENST00000309879.5_Missense_Mutation_p.A699D	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1049					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAAGTGAGCGGCCACGTCCTT	0.597																																					p.A1049D													.	ADCY5	169		0			c.C3146A												78.0	66.0	70.0					3																	123010141		2203	4300	6503	SO:0001583	missense	111	exon18			TGAGCGGCCACGT	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3146C>A	3.37:g.123010141G>T	ENSP00000419361:p.Ala1049Asp		Somatic	216	0.0046296296	1		WXS	Illumina HiSeq	Phase_I	355	0.02	8	NM_183357	28	0.00	0	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141837	0.94560	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	D;D;D	0.86097	-1.74;-1.98;-2.07	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.64402	D	0.000001	D	0.94285	0.8164	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.959	D	0.95836	0.8862	10	0.87932	D	0	.	17.4829	0.87679	0.0:0.0:1.0:0.0	.	1049;707	O95622;B3KWA8	ADCY5_HUMAN;.	D	1049;707;699	ENSP00000419361:A1049D;ENSP00000418537:A707D;ENSP00000308685:A699D	ENSP00000308685:A699D	A	-	2	0	ADCY5	124492831	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.650000	0.98490	2.362000	0.80069	0.563000	0.77884	GCC			0.597	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355889.4		XM_171048	
ITGB5	3693	broad.mit.edu	37	3	124592308	124592308	+	Silent	SNP	G	G	T	rs200795031		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:124592308G>T	ENST00000296181.4	-	2	437	c.141C>A	c.(139-141)gcC>gcA	p.A47A		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	47	PSI.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGGAGCACCAGGCACATTTTG	0.483																																					p.A47A													.	ITGB5	66		0			c.C141A												277.0	259.0	265.0					3																	124592308		2203	4300	6503	SO:0001819	synonymous_variant	3693	exon2			GCACCAGGCACAT	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.141C>A	3.37:g.124592308G>T			Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	264	0.01	3	NM_002213	85	0.00	0	B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	CCDS3030.1																																																																																					0.483	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355286.3		NM_002213	
RAB7A	7879	broad.mit.edu	37	3	128516833	128516833	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:128516833G>T	ENST00000265062.3	+	3	347	c.101G>T	c.(100-102)aGc>aTc	p.S34I	RAB7A_ENST00000485280.1_Missense_Mutation_p.S34I|RAB7A_ENST00000482525.1_Missense_Mutation_p.S34I	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	34					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		AAGAAATTCAGCAATCAGTAC	0.428																																					p.S34I													.	RAB7A	17		0			c.G101T												154.0	135.0	141.0					3																	128516833		2203	4300	6503	SO:0001583	missense	7879	exon3			AATTCAGCAATCA	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.101G>T	3.37:g.128516833G>T	ENSP00000265062:p.Ser34Ile		Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	302	0.02	5	NM_004637	769	0.00	0	A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960047	0.74016	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000493186;ENST00000483906;ENST00000485280	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.69	3.9	0.45041	Small GTP-binding protein domain (1);	.	.	.	.	T	0.69070	0.3070	L	0.35414	1.06	0.58432	D	0.999995	B;B	0.31968	0.106;0.349	B;B	0.39152	0.292;0.148	T	0.66264	-0.5967	9	0.62326	D	0.03	-26.8617	6.6436	0.22923	0.0684:0.1292:0.6682:0.1342	.	34;34	C9J8S3;P51149	.;RAB7A_HUMAN	I	34	ENSP00000265062:S34I;ENSP00000417668:S34I;ENSP00000417978:S34I;ENSP00000418955:S34I;ENSP00000417189:S34I;ENSP00000417155:S34I;ENSP00000418283:S34I	ENSP00000265062:S34I	S	+	2	0	RAB7A	129999523	1.000000	0.71417	0.949000	0.38748	0.977000	0.68977	7.068000	0.76748	0.768000	0.33290	-0.169000	0.13324	AGC			0.428	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357479.1			
TMCC1	23023	broad.mit.edu	37	3	129370502	129370502	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:129370502G>T	ENST00000393238.3	-	6	2124	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	TMCC1_ENST00000432054.2_Missense_Mutation_p.A271D|TMCC1_ENST00000426664.2_Missense_Mutation_p.A481D|TMCC1_ENST00000329333.5_Missense_Mutation_p.A416D	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	595						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGCCATGACAGCCAGGAGGAT	0.547																																					p.A595D													.	TMCC1	105		0			c.C1784A												160.0	141.0	147.0					3																	129370502		2203	4300	6503	SO:0001583	missense	23023	exon6			ATGACAGCCAGGA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1784C>A	3.37:g.129370502G>T	ENSP00000376930:p.Ala595Asp		Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	191	0.02	3	NM_001017395	22	0.00	0	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936934	0.73557	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	T	0.76013	-0.3114	10	0.66056	D	0.02	-10.7531	19.0697	0.93127	0.0:0.0:1.0:0.0	.	416;595	B4DE04;O94876	.;TMCC1_HUMAN	D	271;595;481;416	ENSP00000404711:A271D;ENSP00000376930:A595D;ENSP00000389892:A481D;ENSP00000327349:A416D	ENSP00000327349:A416D	A	-	2	0	TMCC1	130853192	1.000000	0.71417	0.972000	0.41901	0.829000	0.46940	9.651000	0.98493	2.744000	0.94065	0.650000	0.86243	GCT			0.547	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356418.2		NM_015008	
COL6A5	256076	broad.mit.edu	37	3	130107651	130107651	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:130107651G>T	ENST00000432398.2	+	6	2584	c.2090G>T	c.(2089-2091)aGa>aTa	p.R697I	COL6A5_ENST00000265379.6_Missense_Mutation_p.R697I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	697	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCAATAGATAGAATGTCTCTC	0.393																																					p.R697I													.	COL6A5	205		0			c.G2090T												48.0	42.0	44.0					3																	130107651		692	1591	2283	SO:0001583	missense	256076	exon6			TAGATAGAATGTC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2090G>T	3.37:g.130107651G>T	ENSP00000390895:p.Arg697Ile		Somatic	158	0.0126582278	2		WXS	Illumina HiSeq	Phase_I	225	0.01	3	NM_153264	0		0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	13.32	2.201346	0.38905	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.78924	-1.22;-1.22	5.59	3.72	0.42706	.	.	.	.	.	D	0.86171	0.5869	M	0.87456	2.885	0.28827	N	0.897344	P	0.43578	0.811	P	0.51550	0.673	T	0.81444	-0.0930	9	0.54805	T	0.06	.	14.8133	0.70010	0.0:0.2747:0.7253:0.0	.	697	A8TX70-2	.	I	697	ENSP00000390895:R697I;ENSP00000265379:R697I	ENSP00000265379:R697I	R	+	2	0	COL6A5	131590341	0.000000	0.05858	0.081000	0.20488	0.875000	0.50365	-0.402000	0.07223	0.661000	0.30985	0.650000	0.86243	AGA			0.393	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_153264	
DNAJC13	23317	broad.mit.edu	37	3	132202314	132202314	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:132202314G>T	ENST00000260818.6	+	28	3323	c.3075G>T	c.(3073-3075)caG>caT	p.Q1025H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1025					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCATACCCCAGCTTAAGTGGT	0.443																																					p.Q1025H													.	DNAJC13	253		0			c.G3075T												177.0	149.0	159.0					3																	132202314		2203	4300	6503	SO:0001583	missense	23317	exon28			ACCCCAGCTTAAG	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3075G>T	3.37:g.132202314G>T	ENSP00000260818:p.Gln1025His		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	284	0.01	4	NM_015268	5	0.00	0	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736749	0.89482	.	.	ENSG00000138246	ENST00000260818	T	0.21361	2.01	5.87	4.99	0.66335	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.84683	2.71	0.80722	D	1	D	0.63046	0.992	D	0.72075	0.976	T	0.55134	-0.8188	10	0.87932	D	0	.	15.9441	0.79779	0.0675:0.0:0.9325:0.0	.	1025	O75165	DJC13_HUMAN	H	1025	ENSP00000260818:Q1025H	ENSP00000260818:Q1025H	Q	+	3	2	DNAJC13	133685004	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.663000	0.68038	2.941000	0.99782	0.655000	0.94253	CAG			0.443	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356807.2		NM_015268	
TOPBP1	11073	broad.mit.edu	37	3	133327786	133327786	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:133327786C>A	ENST00000260810.5	-	26	4325	c.4194G>T	c.(4192-4194)aaG>aaT	p.K1398N		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1398	BRCT 8. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GTAAAATAACCTTCCACCCAC	0.348								Other conserved DNA damage response genes																													p.K1398N	Ovarian(21;193 658 4424 15423 17362)												.	TOPBP1	218		0			c.G4194T												79.0	75.0	76.0					3																	133327786		1826	4089	5915	SO:0001583	missense	11073	exon26			AATAACCTTCCAC	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4194G>T	3.37:g.133327786C>A	ENSP00000260810:p.Lys1398Asn		Somatic	392	0	0		WXS	Illumina HiSeq	Phase_I	593	0.01	5	NM_007027	171	0.00	0	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312312	0.40895	.	.	ENSG00000163781	ENST00000260810	T	0.14022	2.54	5.57	0.632	0.17705	.	0.146062	0.64402	D	0.000006	T	0.12860	0.0312	L	0.44542	1.39	0.38160	D	0.939001	D	0.54047	0.964	B	0.43838	0.433	T	0.07888	-1.0749	10	0.52906	T	0.07	.	11.2063	0.48771	0.0:0.4641:0.0:0.5359	.	1398	Q92547	TOPB1_HUMAN	N	1398	ENSP00000260810:K1398N	ENSP00000260810:K1398N	K	-	3	2	TOPBP1	134810476	0.055000	0.20627	0.998000	0.56505	0.959000	0.62525	-0.648000	0.05391	0.043000	0.15746	0.655000	0.94253	AAG			0.348	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357254.1		NM_007027	
ESYT3	83850	broad.mit.edu	37	3	138191495	138191495	+	Missense_Mutation	SNP	G	G	T	rs372734965		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:138191495G>T	ENST00000389567.4	+	18	2217	c.2031G>T	c.(2029-2031)gaG>gaT	p.E677D		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	677					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGTTCTGTGAGCCCATCGGGG	0.587																																					p.E677D													.	ESYT3	64		0			c.G2031T							G	ASP/GLU	0,4252		0,0,2126	110.0	129.0	123.0		2031	1.7	1.0	3		123	1,8467		0,1,4233	no	missense	ESYT3	NM_031913.3	45	0,1,6359	TT,TG,GG		0.0118,0.0,0.0079	probably-damaging	677/887	138191495	1,12719	2126	4234	6360	SO:0001583	missense	83850	exon18			CTGTGAGCCCATC	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2031G>T	3.37:g.138191495G>T	ENSP00000374218:p.Glu677Asp		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	207	0.01	3	NM_031913	15	0.00	0	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498492	0.44455	0.0	1.18E-4	ENSG00000158220	ENST00000389567	T	0.38077	1.16	4.97	1.67	0.24075	.	0.812959	0.10499	N	0.667488	T	0.30386	0.0763	L	0.44542	1.39	0.30767	N	0.743414	D	0.58268	0.982	P	0.46718	0.525	T	0.23297	-1.0192	10	0.14656	T	0.56	-8.5812	6.4366	0.21827	0.3882:0.0:0.6118:0.0	.	677	A0FGR9	ESYT3_HUMAN	D	677	ENSP00000374218:E677D	ENSP00000374218:E677D	E	+	3	2	ESYT3	139674185	0.856000	0.29760	0.975000	0.42487	0.985000	0.73830	0.560000	0.23500	0.475000	0.27415	0.462000	0.41574	GAG			0.587	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000303993.1		NM_031913	
CEP70	80321	broad.mit.edu	37	3	138219304	138219305	+	Frame_Shift_Ins	INS	-	-	T	rs370409745		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:138219304_138219305insT	ENST00000264982.3	-	15	1739_1740	c.1473_1474insA	c.(1471-1476)gaagttfs	p.V492fs	CEP70_ENST00000481834.1_Frame_Shift_Ins_p.V492fs|CEP70_ENST00000484888.1_Frame_Shift_Ins_p.V492fs|CEP70_ENST00000542237.1_Frame_Shift_Ins_p.V472fs|CEP70_ENST00000489254.1_Frame_Shift_Ins_p.V340fs	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	492					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTAGTATAAACTTCATTCATTC	0.376																																					p.V492fs													.	CEP70	51		0			c.1474_1475insA																																									SO:0001589	frameshift_variant	80321	exon15			TATAAACTTCATT	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1474dupA	3.37:g.138219306_138219306dupT	ENSP00000264982:p.Val492fs		Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	519	0.01	7	NM_024491	102	0.00	0	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Frame_Shift_Ins	INS	ENST00000264982.3	37	CCDS3102.1																																																																																					0.376	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000358001.1		NM_024491	
RASA2	5922	broad.mit.edu	37	3	141235273	141235273	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:141235273G>T	ENST00000452898.1	+	3	390	c.355G>T	c.(355-357)Gga>Tga	p.G119*	RASA2_ENST00000286364.3_Splice_Site_p.G119*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	119	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TCTCCGTATAGGTATGTACTA	0.259																																					p.G119X													.	RASA2	169		0			c.G355T												43.0	48.0	46.0					3																	141235273		2187	4256	6443	SO:0001630	splice_region_variant	5922	exon3			CGTATAGGTATGT	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.355+1G>T	3.37:g.141235273G>T			Somatic	181	0.0055248619	1		WXS	Illumina HiSeq	Phase_I	274	0.02	6	NM_006506	0		0	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Splice_Site	SNP	ENST00000452898.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.100184	0.94245	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8713	0.88812	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000286364:G119X	G	+	1	0	RASA2	142717963	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.276000	0.89894	2.508000	0.84585	0.650000	0.86243	GGA			0.259	RASA2-201	KNOWN	basic	protein_coding	protein_coding				NM_006506	Nonsense_Mutation
PLS1	5357	broad.mit.edu	37	3	142403123	142403123	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:142403123G>T	ENST00000337777.3	+	8	987	c.774G>T	c.(772-774)gaG>gaT	p.E258D	PLS1_ENST00000497002.1_Missense_Mutation_p.E258D|PLS1_ENST00000457734.2_Missense_Mutation_p.E258D	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	258	Actin-binding 1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ATGAAGGTGAGGAACTAGAGG	0.428																																					p.E258D													.	PLS1	71		0			c.G774T												117.0	110.0	112.0					3																	142403123		2203	4300	6503	SO:0001583	missense	5357	exon8			AGGTGAGGAACTA	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.774G>T	3.37:g.142403123G>T	ENSP00000336831:p.Glu258Asp		Somatic	215	0	0		WXS	Illumina HiSeq	Phase_I	304	0.01	4	NM_001172312	12	0.00	0	A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955796	0.53293	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	4.83	-0.0277	0.13925	Calponin homology domain (2);	0.043217	0.85682	D	0.000000	D	0.94155	0.8125	M	0.80183	2.485	0.58432	D	0.999999	B	0.34372	0.451	B	0.30179	0.112	D	0.90062	0.4157	10	0.87932	D	0	-21.8714	8.9347	0.35693	0.5174:0.0:0.4826:0.0	.	258	Q14651	PLSI_HUMAN	D	258;179;258;258	ENSP00000387890:E258D;ENSP00000417481:E179D;ENSP00000336831:E258D;ENSP00000418700:E258D	ENSP00000336831:E258D	E	+	3	2	PLS1	143885813	0.797000	0.28877	0.694000	0.30210	0.993000	0.82548	0.016000	0.13377	0.070000	0.16634	0.591000	0.81541	GAG			0.428	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354435.1		NM_002670	
U2SURP	23350	broad.mit.edu	37	3	142733171	142733172	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:142733171_142733172insT	ENST00000473835.2	+	4	331_332	c.241_242insT	c.(241-243)cttfs	p.L81fs	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Frame_Shift_Ins_p.L81fs	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	81					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GGAAAACAAACTTAAAGCATTC	0.277																																					p.L81fs													.	U2SURP	66		0			c.241_242insT																																									SO:0001589	frameshift_variant	23350	exon4			AACAAACTTAAAG	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.243dupT	3.37:g.142733173_142733173dupT	ENSP00000418563:p.Leu81fs		Somatic	451	0	0		WXS	Illumina HiSeq	Phase_I	604	0.01	6	NM_001080415	52	0.00	0	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Frame_Shift_Ins	INS	ENST00000473835.2	37	CCDS46928.1																																																																																					0.277	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354603.2		NM_001080415	
PLOD2	5352	broad.mit.edu	37	3	145788627	145788627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:145788627G>T	ENST00000360060.3	-	19	2268	c.2091C>A	c.(2089-2091)tgC>tgA	p.C697*	RP11-274H2.2_ENST00000494745.2_RNA|PLOD2_ENST00000282903.5_Nonsense_Mutation_p.C718*|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.C663*|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Nonsense_Mutation_p.C378*|RP11-274H2.3_ENST00000490375.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	697	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACTCAATAGAGCAATTGTACC	0.363																																					p.C718X													.	PLOD2	81		0			c.C2154A												55.0	53.0	53.0					3																	145788627		2202	4299	6501	SO:0001587	stop_gained	5352	exon20			AATAGAGCAATTG	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.2091C>A	3.37:g.145788627G>T	ENSP00000353170:p.Cys697*		Somatic	483	0	0		WXS	Illumina HiSeq	Phase_I	645	0.01	6	NM_182943	178	0.00	0	B3KWS3|Q59ED2|Q8N170	Nonsense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	G	41	8.668710	0.98908	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	.	.	.	5.51	5.51	0.81932	.	0.043759	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.4241	19.4073	0.94653	0.0:0.0:1.0:0.0	.	.	.	.	X	378;718;697;663	.	ENSP00000282903:C718X	C	-	3	2	PLOD2	147271317	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.049000	0.49869	2.578000	0.87016	0.585000	0.79938	TGC			0.363	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000355185.1		NM_000935	
PLSCR4	57088	broad.mit.edu	37	3	145914479	145914480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:145914479_145914480insT	ENST00000354952.2	-	7	965_966	c.725_726insA	c.(724-726)aatfs	p.N242fs	PLSCR4_ENST00000383083.2_Frame_Shift_Ins_p.N152fs|PLSCR4_ENST00000446574.2_Frame_Shift_Ins_p.N242fs|PLSCR4_ENST00000433593.2_Frame_Shift_Ins_p.N137fs|PLSCR4_ENST00000493382.1_Frame_Shift_Ins_p.N242fs	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	242					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTCTCATCACATTTTCTTTCTT	0.446																																					p.N242fs													.	PLSCR4	44		0			c.726_727insA																																									SO:0001589	frameshift_variant	57088	exon9			CATCACATTTTCT	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.726dupA	3.37:g.145914483_145914483dupT	ENSP00000347038:p.Asn242fs		Somatic	349	0	0		WXS	Illumina HiSeq	Phase_I	514	0.01	4	NM_001128304	3	0.00	0	A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Frame_Shift_Ins	INS	ENST00000354952.2	37	CCDS3133.1																																																																																					0.446	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355172.1		NM_020353	
PFN2	5217	broad.mit.edu	37	3	149686177	149686178	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:149686177_149686178insT	ENST00000239940.7	-	2	544_545	c.292_293insA	c.(292-294)acafs	p.T98fs	PFN2_ENST00000423691.2_Frame_Shift_Ins_p.T98fs|PFN2_ENST00000489155.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000498307.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000481767.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000461868.1_Frame_Shift_Ins_p.T98fs|PFN2_ENST00000452853.2_Frame_Shift_Ins_p.T98fs|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000475518.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000494827.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000490975.1_Intron|PFN2_ENST00000481275.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000497148.1_Frame_Shift_Ins_p.T49fs			P35080	PROF2_HUMAN	profilin 2	98					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACATTGTATGTTGGCTCCCCA	0.455																																					p.T98fs													.	PFN2	23		0			c.293_294insA																																									SO:0001589	frameshift_variant	5217	exon2			TTGTATGTTGGCT	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.293dupA	3.37:g.149686179_149686179dupT	ENSP00000239940:p.Thr98fs		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	328	0.02	5	NM_002628	450	0.00	0	B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Frame_Shift_Ins	INS	ENST00000239940.7	37	CCDS3148.1																																																																																					0.455	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356873.2		NM_002628	
P2RY1	5028	broad.mit.edu	37	3	152554612	152554612	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:152554612G>T	ENST00000305097.3	+	1	1877	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	347					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAAGAAGTGAGGCAAATTTGC	0.448																																					p.E347D													.	P2RY1	49		0			c.G1041T												47.0	50.0	49.0					3																	152554612		2203	4300	6503	SO:0001583	missense	5028	exon1			AAGTGAGGCAAAT	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.1041G>T	3.37:g.152554612G>T	ENSP00000304767:p.Glu347Asp		Somatic	125	0.016	2		WXS	Illumina HiSeq	Phase_I	161	0.02	3	NM_002563	4	0.00	0		Missense_Mutation	SNP	ENST00000305097.3	37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683357	0.29872	.	.	ENSG00000169860	ENST00000305097	T	0.24350	1.86	5.2	4.33	0.51752	.	0.257163	0.33670	N	0.004661	T	0.12646	0.0307	N	0.08118	0	0.46678	D	0.999153	B	0.06786	0.001	B	0.04013	0.001	T	0.08638	-1.0712	10	0.12766	T	0.61	.	12.8565	0.57888	0.0783:0.0:0.9217:0.0	.	347	P47900	P2RY1_HUMAN	D	347	ENSP00000304767:E347D	ENSP00000304767:E347D	E	+	3	2	P2RY1	154037302	0.882000	0.30256	1.000000	0.80357	0.994000	0.84299	0.274000	0.18680	1.195000	0.43115	0.563000	0.77884	GAG			0.448	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356943.1		NM_002563	
TRIM59	286827	broad.mit.edu	37	3	160156583	160156583	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:160156583G>T	ENST00000309784.4	-	3	574	c.389C>A	c.(388-390)cCt>cAt	p.P130H	TRIM59_ENST00000543469.1_Missense_Mutation_p.P130H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.P130H	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	130					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCATCTATAGGATGACCATG	0.383																																					p.P130H													.	TRIM59	42		0			c.C389A												109.0	106.0	107.0					3																	160156583		2203	4300	6503	SO:0001583	missense	286827	exon3			TCTATAGGATGAC	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.389C>A	3.37:g.160156583G>T	ENSP00000311219:p.Pro130His		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	175	0.02	4	NM_173084	12	0.00	0	A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417151	0.62511	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.77	4.89	0.63831	Zinc finger, B-box (2);	0.118844	0.64402	D	0.000020	T	0.52435	0.1734	L	0.39898	1.24	0.33446	D	0.582995	D	0.89917	1.0	D	0.77557	0.99	T	0.59295	-0.7481	9	.	.	.	-17.0018	12.1125	0.53848	0.0667:0.1196:0.8137:0.0	.	130	Q8IWR1	TRI59_HUMAN	H	130;130;130;130;158	ENSP00000444313:P130H;ENSP00000311219:P130H;ENSP00000417081:P130H;ENSP00000420520:P130H;ENSP00000418856:P158H	.	P	-	2	0	TRIM59	161639277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.964000	0.56780	2.724000	0.93272	0.561000	0.74099	CCT			0.383	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352963.1		NM_173084	
PRKCI	5584	broad.mit.edu	37	3	170009712	170009713	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:170009712_170009713insA	ENST00000295797.4	+	13	1579_1580	c.1274_1275insA	c.(1273-1278)ttaagafs	p.R426fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CCTGAAATTTTAAGAGGAGAAG	0.337																																					p.L425fs													.	PRKCI	82		0			c.1274_1275insA																																									SO:0001589	frameshift_variant	5584	exon13			AAATTTTAAGAGG		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1276dupA	3.37:g.170009714_170009714dupA	ENSP00000295797:p.Arg426fs		Somatic	388	0	0		WXS	Illumina HiSeq	Phase_I	547	0.01	4	NM_002740	27	0.00	0	D3DNQ4|Q8WW06	Frame_Shift_Ins	INS	ENST00000295797.4	37	CCDS3212.2																																																																																					0.337	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316866.3		NM_002740	
ABCC5	10057	broad.mit.edu	37	3	183670921	183670921	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:183670921C>T	ENST00000334444.6	-	18	2860	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	ABCC5_ENST00000265586.6_Missense_Mutation_p.A874T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	874	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GTGCTGAAGGCGGTGCTGCCT	0.507																																					p.A874T													.	ABCC5	142		0			c.G2620A												107.0	104.0	105.0					3																	183670921		1922	4125	6047	SO:0001583	missense	10057	exon18			TGAAGGCGGTGCT	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2620G>A	3.37:g.183670921C>T	ENSP00000333926:p.Ala874Thr		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	232	0.02	5	NM_005688	22	0.00	0	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497125|4.497125	0.85069|0.85069	.|.	.|.	ENSG00000114770|ENSG00000114770	ENST00000334444;ENST00000265586|ENST00000382495	D;D|.	0.90004|.	-2.6;-2.6|.	5.62|5.62	5.62|5.62	0.85841|0.85841	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56790|0.56790	0.2009|0.2009	N|N	0.25426|0.25426	0.745|0.745	0.80722|0.80722	D|D	1|1	D;P|.	0.54964|.	0.969;0.903|.	P;B|.	0.48270|.	0.572;0.402|.	T|T	0.48139|0.48139	-0.9061|-0.9061	10|6	0.17369|0.21014	T|T	0.5|0.42	-19.0543|-19.0543	19.69|19.69	0.95996|0.95996	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	874;874|.	Q86UX3;O15440|.	.;MRP5_HUMAN|.	T|H	874|808	ENSP00000333926:A874T;ENSP00000265586:A874T|.	ENSP00000265586:A874T|ENSP00000371935:R808H	A|R	-|-	1|2	0|0	ABCC5|ABCC5	185153615|185153615	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.933000|0.933000	0.57130|0.57130	7.380000|7.380000	0.79704|0.79704	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	GCC|CGC			0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346350.1		NM_005688	
VPS8	23355	broad.mit.edu	37	3	184580796	184580796	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:184580796G>T	ENST00000437079.3	+	16	1507	c.1336G>T	c.(1336-1338)Gtc>Ttc	p.V446F	VPS8_ENST00000436792.2_Missense_Mutation_p.V444F|VPS8_ENST00000446204.2_Missense_Mutation_p.V444F|VPS8_ENST00000287546.4_Missense_Mutation_p.V446F	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	446							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGTTCAGCTGGTCTACAATAG	0.433																																					p.V446F													.	VPS8	109		0			c.G1336T												132.0	136.0	134.0					3																	184580796		1972	4163	6135	SO:0001583	missense	23355	exon15			CAGCTGGTCTACA	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1336G>T	3.37:g.184580796G>T	ENSP00000397879:p.Val446Phe		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	166	0.03	5	NM_001009921	1	0.00	0	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721973	0.89298	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	6.01	5.14	0.70334	.	0.059850	0.64402	D	0.000002	T	0.42040	0.1185	L	0.58810	1.83	0.80722	D	1	B;D	0.76494	0.01;0.999	B;D	0.69142	0.021;0.962	T	0.16158	-1.0412	10	0.33141	T	0.24	-15.7186	16.7627	0.85516	0.0:0.0:0.8699:0.1301	.	444;444	Q8N3P4-2;Q8N3P4-3	.;.	F	446;446;444;444	ENSP00000287546:V446F;ENSP00000397879:V446F;ENSP00000404704:V444F;ENSP00000405483:V444F	ENSP00000287546:V446F	V	+	1	0	VPS8	186063490	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.726000	0.98782	1.539000	0.49286	0.655000	0.94253	GTC			0.433	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_015303	
HRG	3273	broad.mit.edu	37	3	186394998	186394998	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:186394998G>T	ENST00000232003.4	+	7	984	c.904G>T	c.(904-906)Gat>Tat	p.D302Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	302	Pro-rich.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACCTCCTCCAGATGAAAGAGA	0.522																																					p.D302Y													.	HRG	81		0			c.G904T												208.0	169.0	182.0					3																	186394998		2203	4300	6503	SO:0001583	missense	3273	exon7			CCTCCAGATGAAA		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.904G>T	3.37:g.186394998G>T	ENSP00000232003:p.Asp302Tyr		Somatic	287	0.0034843206	1		WXS	Illumina HiSeq	Phase_I	547	0.01	4	NM_000412	1	0.00	0	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173201	0.38413	.	.	ENSG00000113905	ENST00000232003	T	0.19669	2.13	3.66	3.66	0.41972	.	0.371703	0.23049	N	0.052503	T	0.12646	0.0307	N	0.22421	0.69	0.09310	N	1	D	0.56968	0.978	P	0.44860	0.462	T	0.09729	-1.0661	10	0.02654	T	1	-1.7283	11.0536	0.47905	0.0:0.0:1.0:0.0	.	302	P04196	HRG_HUMAN	Y	302	ENSP00000232003:D302Y	ENSP00000232003:D302Y	D	+	1	0	HRG	187877692	0.002000	0.14202	0.026000	0.17262	0.003000	0.03518	1.168000	0.31859	2.079000	0.62486	0.555000	0.69702	GAT			0.522	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344655.1		NM_000412	
MUC4	4585	broad.mit.edu	37	3	195508959	195508959	+	Silent	SNP	A	A	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:195508959A>T	ENST00000463781.3	-	2	9951	c.9492T>A	c.(9490-9492)ggT>ggA	p.G3164G	MUC4_ENST00000475231.1_Silent_p.G3164G|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.G3164G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGCCTGACCTGTGGATG	0.592																																					p.G3164G													MUC4_ENST00000463781,NS,carcinoma,0,1	MUC4	1505	1	1	Substitution - coding silent(1)	endometrium(1)	c.T9492A												5.0	3.0	3.0					3																	195508959		542	1229	1771	SO:0001819	synonymous_variant	4585	exon2			GGCCTGACCTGTG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9492T>A	3.37:g.195508959A>T			Somatic	66	0.0151515152	1		WXS	Illumina HiSeq	Phase_I	82	0.05	4	NM_018406	10	0.00	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																					0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324081.6		NM_018406	
PDE6B	5158	broad.mit.edu	37	4	619638	619638	+	Missense_Mutation	SNP	G	G	A	rs376238566		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:619638G>A	ENST00000496514.1	+	1	244	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	PDE6B_ENST00000255622.6_Missense_Mutation_p.V75M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	75	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CATGGAGCGCGTGGTCTTCAA	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15886	0.0		0.0	False		,,,				2504	0.0				p.V75M	GBM(71;463 1194 9848 25922 46834)												.	PDE6B	80		0			c.G223A							G	MET/VAL,MET/VAL	0,4400		0,0,2200	27.0	24.0	25.0		223,223	5.0	0.9	4		25	1,8599		0,1,4299	no	missense,missense	PDE6B	NM_000283.3,NM_001145291.1	21,21	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	75/855,75/854	619638	1,12999	2200	4300	6500	SO:0001583	missense	5158	exon1			GAGCGCGTGGTCT	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.223G>A	4.37:g.619638G>A	ENSP00000420295:p.Val75Met		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	129	0.02	3	NM_001145291	1	0.00	0	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785399	0.31593	0.0	1.16E-4	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.68765	-0.35;-0.35	4.98	4.98	0.66077	GAF (2);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.53561	1.675	0.26348	N	0.977247	P;P	0.37398	0.593;0.538	B;B	0.32533	0.147;0.091	T	0.61987	-0.6949	10	0.51188	T	0.08	.	15.7244	0.77743	0.0:0.0:1.0:0.0	.	75;75	P35913;P35913-2	PDE6B_HUMAN;.	M	75	ENSP00000255622:V75M;ENSP00000420295:V75M	ENSP00000255622:V75M	V	+	1	0	PDE6B	609638	0.112000	0.22096	0.860000	0.33809	0.761000	0.43186	1.619000	0.36965	2.326000	0.78906	0.561000	0.74099	GTG			0.677	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000358109.1		NM_000283	
PDE6B	5158	broad.mit.edu;bcgsc.ca	37	4	656329	656329	+	Missense_Mutation	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:656329T>C	ENST00000496514.1	+	14	1775	c.1754T>C	c.(1753-1755)cTg>cCg	p.L585P	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.L585P|PDE6B_ENST00000429163.2_Missense_Mutation_p.L306P			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	585					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TACACGGACCTGGAGGCCTTC	0.627																																					p.L585P	GBM(71;463 1194 9848 25922 46834)												.	PDE6B	80		0			c.T1754C												80.0	72.0	74.0					4																	656329		2203	4300	6503	SO:0001583	missense	5158	exon14			CGGACCTGGAGGC	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1754T>C	4.37:g.656329T>C	ENSP00000420295:p.Leu585Pro		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	116	0.07	8	NM_001145291	10	0.00	0	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164329	0.78339	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	D;D;D	0.85702	-2.02;-2.02;-2.02	4.55	4.55	0.56014	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.079290	0.51477	D	0.000086	D	0.93051	0.7788	M	0.90870	3.155	0.80722	D	1	D;D	0.71674	0.987;0.998	D;D	0.75020	0.974;0.985	D	0.94076	0.7340	10	0.87932	D	0	.	11.8386	0.52340	0.0:0.0:0.0:1.0	.	585;585	P35913;P35913-2	PDE6B_HUMAN;.	P	585;585;306	ENSP00000255622:L585P;ENSP00000420295:L585P;ENSP00000406334:L306P	ENSP00000255622:L585P	L	+	2	0	PDE6B	646329	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	7.480000	0.81109	1.674000	0.50907	0.520000	0.50463	CTG			0.627	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000358109.1		NM_000283	
FGFR3	2261	mdanderson.org	37	4	1804666	1804666	+	Intron	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:1804666C>A	ENST00000260795.2	+	7	1032				FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Intron|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.A319D			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3						alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	AGTGTGGAGGCCGACGTGCGC	0.677		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																												p.A319D				Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	.	.			0			c.C956A												21.0	24.0	23.0					4																	1804666		1561	3576	5137	SO:0001627	intron_variant	2261	exon8	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	TGGAGGCCGACGT	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.931-753C>A	4.37:g.1804666C>A			Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	56	0.05	3	NM_001163213	15	0.00	0	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.777792	0.49786	.	.	ENSG00000068078	ENST00000340107	T	0.67171	-0.25	4.08	4.08	0.47627	.	.	.	.	.	T	0.51770	0.1694	N	0.24115	0.695	0.80722	D	1	B	0.26120	0.142	B	0.32022	0.139	T	0.46816	-0.9164	9	0.25106	T	0.35	.	10.1783	0.42952	0.0:0.9079:0.0:0.0921	.	319	P22607-2	.	D	319	ENSP00000339824:A319D	ENSP00000339824:A319D	A	+	2	0	FGFR3	1774464	0.942000	0.31987	0.966000	0.40874	0.908000	0.53690	3.170000	0.50816	2.115000	0.64714	0.655000	0.94253	GCC			0.677	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000241632.2		NM_000142	
ADD1	118	broad.mit.edu	37	4	2896372	2896372	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:2896372G>T	ENST00000398129.1	+	5	675	c.655G>T	c.(655-657)Gcc>Tcc	p.A219S	ADD1_ENST00000446856.1_Missense_Mutation_p.A219S|ADD1_ENST00000503455.2_Missense_Mutation_p.A219S|ADD1_ENST00000264758.7_Missense_Mutation_p.A219S|ADD1_ENST00000398123.2_Missense_Mutation_p.A219S|ADD1_ENST00000513328.2_Missense_Mutation_p.A219S|ADD1_ENST00000355842.3_Missense_Mutation_p.A219S|ADD1_ENST00000398125.1_Missense_Mutation_p.A219S			P35611	ADDA_HUMAN	adducin 1 (alpha)	219					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGAATCAGGCCGGCTTCAC	0.473																																					p.A219S	Esophageal Squamous(71;505 1201 20414 34538 37449)												ADD1,NS,carcinoma,-2,1	ADD1	56	1	0			c.G655T												68.0	61.0	63.0					4																	2896372		2203	4299	6502	SO:0001583	missense	118	exon6			AATCAGGCCGGCT	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.655G>T	4.37:g.2896372G>T	ENSP00000381197:p.Ala219Ser		Somatic	335	0	0		WXS	Illumina HiSeq	Phase_I	286	0.01	4	NM_014190	31	0.00	0	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031026	0.54790	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.7	5.7	0.88788	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.79614	2.46	0.80722	D	1	B;B;P;B;B;P;B	0.47034	0.007;0.012;0.889;0.016;0.045;0.747;0.032	B;B;P;B;B;P;B	0.60949	0.042;0.042;0.881;0.042;0.025;0.477;0.1	T	0.16041	-1.0416	10	0.27785	T	0.31	-22.8796	19.8301	0.96631	0.0:0.0:1.0:0.0	.	219;219;219;219;219;219;219	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	S	219;219;219;219;219;114;219;219;219;219	ENSP00000264758:A219S;ENSP00000399828:A219S;ENSP00000381193:A219S;ENSP00000421907:A219S;ENSP00000426700:A114S;ENSP00000423024:A219S;ENSP00000348100:A219S;ENSP00000381191:A219S;ENSP00000381197:A219S	ENSP00000264758:A219S	A	+	1	0	ADD1	2866170	1.000000	0.71417	0.361000	0.25849	0.607000	0.37147	7.921000	0.87530	2.692000	0.91855	0.591000	0.81541	GCC			0.473	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000242840.1		NM_014189	
SEL1L3	23231	broad.mit.edu	37	4	25769163	25769163	+	Silent	SNP	G	G	T	rs182680181	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:25769163G>T	ENST00000399878.3	-	19	2951	c.2829C>A	c.(2827-2829)atC>atA	p.I943I	SEL1L3_ENST00000264868.5_Silent_p.I908I|RP11-302F12.10_ENST00000510905.1_RNA|SEL1L3_ENST00000502949.1_Silent_p.I790I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	943						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGGAGCATCGATTTGAAAAA	0.373																																					p.I943I													SEL1L3,NS,carcinoma,0,4	SEL1L3	62	4	0			c.C2829A												82.0	74.0	76.0					4																	25769163		1829	4087	5916	SO:0001819	synonymous_variant	23231	exon19			AGCATCGATTTGA	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2829C>A	4.37:g.25769163G>T			Somatic	403	0.0124069479	5		WXS	Illumina HiSeq	Phase_I	331	0.02	7	NM_015187	19	0.00	0	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	CCDS47037.1																																																																																					0.373	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360261.1		NM_015187	
N4BP2	55728	broad.mit.edu	37	4	40123092	40123092	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:40123092G>T	ENST00000261435.6	+	9	3777	c.3361G>T	c.(3361-3363)Gcc>Tcc	p.A1121S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1121					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TATTATTTGGGCCACAAGCCT	0.348																																					p.A1121S													.	N4BP2	166		0			c.G3361T												71.0	77.0	75.0					4																	40123092		2203	4299	6502	SO:0001583	missense	55728	exon9			ATTTGGGCCACAA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3361G>T	4.37:g.40123092G>T	ENSP00000261435:p.Ala1121Ser		Somatic	278	0	0		WXS	Illumina HiSeq	Phase_I	257	0.01	3	NM_018177	2	0.00	0	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.32|16.32	3.091161|3.091161	0.55968|0.55968	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.27256|.	1.68|.	5.86|5.86	3.21|3.21	0.36854|0.36854	.|.	0.119371|.	0.56097|.	D|.	0.000029|.	T|T	0.55386|0.55386	0.1917|0.1917	L|L	0.59436|0.59436	1.845|1.845	0.32797|0.32797	N|N	0.50045|0.50045	P;P|.	0.51351|.	0.944;0.908|.	P;P|.	0.53146|.	0.719;0.527|.	T|T	0.62918|0.62918	-0.6752|-0.6752	10|5	0.62326|.	D|.	0.03|.	-0.8601|-0.8601	9.6309|9.6309	0.39778|0.39778	0.2696:0.0:0.7304:0.0|0.2696:0.0:0.7304:0.0	.|.	1121;1121|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	S|V	1121;1041|767	ENSP00000261435:A1121S|.	ENSP00000261435:A1121S|.	A|G	+|+	1|2	0|0	N4BP2|N4BP2	39799487|39799487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.978000|2.978000	0.49305|0.49305	0.825000|0.825000	0.34637|0.34637	0.563000|0.563000	0.77884|0.77884	GCC|GGC			0.348	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250458.2		NM_018177	
GABRA4	2557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	46994860	46994860	+	Missense_Mutation	SNP	G	G	A	rs201606797		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:46994860G>A	ENST00000264318.3	-	2	1172	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	64					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AATCCAGGACGCAGCCTGTTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		15504	0.0		0.001	False		,,,				2504	0.0				p.R64C	Ovarian(6;283 369 8234 12290 33402)												.	.			0			c.C190T												143.0	128.0	133.0					4																	46994860		2203	4300	6503	SO:0001583	missense	2557	exon2			CAGGACGCAGCCT		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.190C>T	4.37:g.46994860G>A	ENSP00000264318:p.Arg64Cys		Somatic	184	0	0		WXS	Illumina HiSeq	.	186	0.39	72	NM_000809	0		0	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.95	2.390220	0.42410	.	.	ENSG00000109158	ENST00000264318	D	0.83506	-1.73	5.46	4.62	0.57501	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	H	0.95402	3.665	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.93551	0.6886	10	0.87932	D	0	.	10.1937	0.43041	0.0923:0.0:0.9077:0.0	.	64	P48169	GBRA4_HUMAN	C	64	ENSP00000264318:R64C	ENSP00000264318:R64C	R	-	1	0	GABRA4	46689617	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	5.426000	0.66476	1.309000	0.44985	-0.384000	0.06662	CGT	0		0.483	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216893.1			
EPHA5	2044	broad.mit.edu	37	4	66217148	66217148	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:66217148G>T	ENST00000273854.3	-	14	3067	c.2467C>A	c.(2467-2469)Cgg>Agg	p.R823R	EPHA5_ENST00000511294.1_Silent_p.R824R|EPHA5_ENST00000354839.4_Silent_p.R801R|EPHA5_ENST00000432638.2_Silent_p.R660R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	823	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.R823W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCAGTACCCGGGAAAGTCCA	0.433										TSP Lung(17;0.13)																											p.R823R													EPHA5,NS,other,0,1	EPHA5	315	1	1	Substitution - Missense(1)	pancreas(1)	c.C2467A												125.0	112.0	116.0					4																	66217148		2203	4300	6503	SO:0001819	synonymous_variant	2044	exon14			GTACCCGGGAAAG	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2467C>A	4.37:g.66217148G>T			Somatic	170	0	0		WXS	Illumina HiSeq	Phase_I	172	0.02	4	NM_004439	0		0	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																					0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251388.2		NM_004439	
RUFY3	22902	broad.mit.edu	37	4	71659525	71659525	+	IGR	SNP	G	G	A	rs376846064		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:71659525G>A	ENST00000226328.4	+	0	4233				RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H|RUFY3_ENST00000381006.3_Missense_Mutation_p.R454H	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GAGCGAAGCCGCCAATCTGCT	0.507																																					p.R454H													.	RUFY3	61		0			c.G1361A							G	HIS/ARG	0,4406		0,0,2203	51.0	49.0	50.0		1361	5.0	1.0	4		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	RUFY3	NM_001037442.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	454/621	71659525	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	22902	exon13			GAAGCCGCCAATC	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		4.37:g.71659525G>A			Somatic	304	0.0032894737	1		WXS	Illumina HiSeq	Phase_I	314	0.02	7	NM_001037442	24	0.00	0	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107199	0.77096	0.0	1.16E-4	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.10288	2.91;2.89	5.88	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.54499	0.754	T	0.01480	-1.1344	9	0.66056	D	0.02	0.6659	15.2103	0.73219	0.0676:0.0:0.9324:0.0	.	454	Q7L099-3	.	H	454;401	ENSP00000370394:R454H;ENSP00000425400:R401H	ENSP00000370394:R454H	R	+	2	0	RUFY3	71878389	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.508000	0.81686	1.488000	0.48433	0.655000	0.94253	CGC			0.507	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252161.2		NM_014961	
SHROOM3	57619	broad.mit.edu	37	4	77677789	77677789	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:77677789G>T	ENST00000296043.6	+	8	5850	c.4897G>T	c.(4897-4899)Gca>Tca	p.A1633S	RP11-359D14.3_ENST00000449007.1_RNA|RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1633					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGGCAGCCAGCACCCATCCA	0.517																																					p.A1633S													.	SHROOM3	134		0			c.G4897T												84.0	88.0	87.0					4																	77677789		2203	4300	6503	SO:0001583	missense	57619	exon8			CAGCCAGCACCCA	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4897G>T	4.37:g.77677789G>T	ENSP00000296043:p.Ala1633Ser		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	247	0.01	3	NM_020859	14	0.00	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	8.468	0.856875	0.17106	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	T	0.19394	2.15	5.27	-4.94	0.03057	.	1.365850	0.04600	N	0.398261	T	0.05640	0.0148	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24905	-1.0147	10	0.19590	T	0.45	-0.0045	0.444	0.00490	0.3388:0.1303:0.2633:0.2677	.	1633	Q8TF72	SHRM3_HUMAN	S	1633;110	ENSP00000296043:A1633S	ENSP00000264907:A110S	A	+	1	0	SHROOM3	77896813	0.000000	0.05858	0.023000	0.16930	0.101000	0.19017	-0.472000	0.06623	-0.555000	0.06142	-0.283000	0.09986	GCA			0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252408.2		NM_020859	
AGPAT9	84803	broad.mit.edu	37	4	84518594	84518594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:84518594delA	ENST00000395226.2	+	10	1140	c.922delA	c.(922-924)aacfs	p.N309fs	AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.N309fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	309					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AACTTGCATCAACAATACTTC	0.313																																					p.N308fs													AGPAT9,NS,carcinoma,-1,1	AGPAT9	41	1	0			c.922delA												55.0	57.0	56.0					4																	84518594		2203	4300	6503	SO:0001589	frameshift_variant	84803	exon10			TGCATCAACAATA	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.922delA	4.37:g.84518594delA	ENSP00000378651:p.Asn309fs		Somatic	787	0	0		WXS	Illumina HiSeq	Phase_I	767	0.01	10	NM_001256421	7	0.00	0	Q68CJ4|Q6GPI6|Q96NA3	Frame_Shift_Del	DEL	ENST00000395226.2	37	CCDS3606.1																																																																																					0.313	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252821.3		NM_032717	
SNCA	6622	broad.mit.edu	37	4	90743449	90743449	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:90743449G>A	ENST00000394986.1	-	4	675	c.254C>T	c.(253-255)gCa>gTa	p.A85V	SNCA_ENST00000508895.1_Missense_Mutation_p.A85V|SNCA_ENST00000336904.3_Missense_Mutation_p.A85V|SNCA_ENST00000394989.2_Missense_Mutation_p.A71V|SNCA_ENST00000394991.3_Missense_Mutation_p.A85V|SNCA_ENST00000506244.1_Missense_Mutation_p.A85V|SNCA_ENST00000345009.4_Missense_Mutation_p.A85V|SNCA_ENST00000502987.1_Missense_Mutation_p.A85V|SNCA_ENST00000505199.1_Missense_Mutation_p.A71V|SNCA_ENST00000420646.2_Missense_Mutation_p.A85V			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	85					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		AATGCTCCCTGCTCCCTCCAC	0.498																																					p.A85V													.	SNCA	17		0			c.C254T												208.0	154.0	172.0					4																	90743449		2203	4300	6503	SO:0001583	missense	0	exon4			CTCCCTGCTCCCT	L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.254C>T	4.37:g.90743449G>A	ENSP00000378437:p.Ala85Val		Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	146	0.03	4	NM_000345	40	0.00	0	A8K2A4|Q13701|Q4JHI3|Q6IAU6	Missense_Mutation	SNP	ENST00000394986.1	37	CCDS3634.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340886	0.81911	.	.	ENSG00000145335	ENST00000394989;ENST00000420646;ENST00000345009;ENST00000394986;ENST00000394991;ENST00000336904;ENST00000508895;ENST00000506244;ENST00000505199;ENST00000502987	D;D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.21	4.21	0.49690	.	0.063137	0.64402	D	0.000008	D	0.85496	0.5710	L	0.29908	0.895	0.51767	D	0.999937	D;D;D	0.67145	0.995;0.996;0.996	P;D;D	0.70935	0.837;0.965;0.971	D	0.84226	0.0464	10	0.33141	T	0.24	-0.0774	17.8861	0.88855	0.0:0.0:1.0:0.0	.	71;85;85	P37840-3;P37840;P37840-2	.;SYUA_HUMAN;.	V	71;85;85;85;85;85;85;85;71;85	ENSP00000378440:A71V;ENSP00000396241:A85V;ENSP00000343683:A85V;ENSP00000378437:A85V;ENSP00000378442:A85V;ENSP00000338345:A85V;ENSP00000426955:A85V;ENSP00000422238:A85V;ENSP00000421485:A71V;ENSP00000426034:A85V	ENSP00000338345:A85V	A	-	2	0	SNCA	90962472	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.240000	0.72363	2.622000	0.88805	0.563000	0.77884	GCA			0.498	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253547.2			
CYP2U1	113612	broad.mit.edu	37	4	108868567	108868567	+	Missense_Mutation	SNP	G	G	T	rs138968113	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:108868567G>T	ENST00000332884.6	+	3	1437	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	CYP2U1_ENST00000508453.1_Missense_Mutation_p.A179S|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	388					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		AGTCATTGGCGCCAACCGAGC	0.493																																					p.A388S													.	CYP2U1	20		0			c.G1162T												97.0	90.0	93.0					4																	108868567		2203	4300	6503	SO:0001583	missense	113612	exon3			ATTGGCGCCAACC	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1162G>T	4.37:g.108868567G>T	ENSP00000333212:p.Ala388Ser		Somatic	240	0.0041666667	1		WXS	Illumina HiSeq	Phase_I	247	0.01	3	NM_183075	11	0.00	0	B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096911	0.08681	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.67698	-0.28;-0.28	6.08	-1.05	0.10036	.	1.022090	0.07739	N	0.946562	T	0.35451	0.0932	N	0.02213	-0.635	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.14172	-1.0482	10	0.21540	T	0.41	.	5.0251	0.14381	0.1692:0.5066:0.2062:0.1181	.	388	Q7Z449	CP2U1_HUMAN	S	388;345;179	ENSP00000333212:A388S;ENSP00000423667:A179S	ENSP00000333212:A388S	A	+	1	0	CYP2U1	109088016	0.000000	0.05858	0.000000	0.03702	0.790000	0.44656	0.172000	0.16704	-0.619000	0.05648	-1.297000	0.01338	GCC			0.493	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363691.2		NM_183075	
KIAA1109	84162	broad.mit.edu	37	4	123249484	123249484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:123249484G>T	ENST00000264501.4	+	66	11594	c.11221G>T	c.(11221-11223)Gaa>Taa	p.E3741*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.E3741*			Q2LD37	K1109_HUMAN	KIAA1109	3741					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCATGAGAGGGAAAGGTTTTA	0.373																																					p.E3741X													.	KIAA1109	424		0			c.G11221T												82.0	77.0	78.0					4																	123249484		1834	4080	5914	SO:0001587	stop_gained	84162	exon64			GAGAGGGAAAGGT	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11221G>T	4.37:g.123249484G>T	ENSP00000264501:p.Glu3741*		Somatic	118	0.0084745763	1		WXS	Illumina HiSeq	Phase_I	112	0.04	4	NM_015312	0		0	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524029	0.96431	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	.	.	.	5.57	5.57	0.84162	.	0.140509	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	19.5519	0.95324	0.0:0.0:1.0:0.0	.	.	.	.	X	3741;3741;445	.	ENSP00000264501:E3741X	E	+	1	0	KIAA1109	123468934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.196000	0.77805	2.623000	0.88846	0.467000	0.42956	GAA			0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316415.1		NM_020797	
ADAD1	132612	broad.mit.edu	37	4	123304995	123304995	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:123304995G>T	ENST00000296513.2	+	5	588	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ADAD1_ENST00000388724.2_Missense_Mutation_p.D135Y|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.D117Y	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	135	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTGTGGTGGATGGTATTCA	0.358																																					p.D135Y													.	ADAD1	94		0			c.G403T												166.0	162.0	163.0					4																	123304995		2203	4300	6503	SO:0001583	missense	132612	exon5			GTGGTGGATGGTA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.403G>T	4.37:g.123304995G>T	ENSP00000296513:p.Asp135Tyr		Somatic	263	0.0228136882	6		WXS	Illumina HiSeq	Phase_I	288	0.01	2	NM_139243	0		0	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622328	0.87460	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.84	5.84	0.93424	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90096	0.6906	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91028	0.4862	10	0.87932	D	0	-31.5919	18.912	0.92489	0.0:0.0:1.0:0.0	.	135;135	Q96M93-2;Q96M93	.;ADAD1_HUMAN	Y	135;135;135;135;117	ENSP00000390510:D135Y;ENSP00000296513:D135Y;ENSP00000397254:D135Y;ENSP00000373376:D135Y;ENSP00000373377:D117Y	ENSP00000296513:D135Y	D	+	1	0	ADAD1	123524445	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.495000	0.66912	2.768000	0.95171	0.579000	0.79373	GAT			0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316452.1		NM_139243	
SLC25A31	83447	broad.mit.edu	37	4	128665844	128665844	+	Missense_Mutation	SNP	C	C	T	rs369621147		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:128665844C>T	ENST00000281154.4	+	2	418	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	84					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAGTTTTTGGCGTGGCAATTT	0.318																																					p.R84C													.	SLC25A31	42		0			c.C250T							C	CYS/ARG	0,4404		0,0,2202	131.0	134.0	133.0		250	4.2	1.0	4		133	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC25A31	NM_031291.2	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	84/316	128665844	1,13001	2202	4299	6501	SO:0001583	missense	83447	exon2			TTTTGGCGTGGCA	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.250C>T	4.37:g.128665844C>T	ENSP00000281154:p.Arg84Cys		Somatic	198	0.0151515152	3		WXS	Illumina HiSeq	Phase_I	183	0.02	4	NM_031291	0		0		Missense_Mutation	SNP	ENST00000281154.4	37	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258935	0.59321	0.0	1.16E-4	ENSG00000151475	ENST00000281154	D	0.82344	-1.6	6.02	4.19	0.49359	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000032	D	0.94079	0.8102	H	0.98883	4.36	0.58432	D	0.99999	D	0.76494	0.999	D	0.65010	0.931	D	0.95809	0.8840	10	0.87932	D	0	-2.78	13.0783	0.59099	0.4035:0.5964:0.0:0.0	.	84	Q9H0C2	ADT4_HUMAN	C	84	ENSP00000281154:R84C	ENSP00000281154:R84C	R	+	1	0	SLC25A31	128885294	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	1.930000	0.40124	1.535000	0.49220	-0.188000	0.12872	CGT			0.318	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257094.2		NM_031291	
UCP1	7350	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	141483480	141483480	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:141483480C>T	ENST00000262999.3	-	5	751	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	226					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ATAGCTGTTGCGCAAAATCCA	0.458																																					p.A226T													.	UCP1	33		0			c.G676A												105.0	97.0	100.0					4																	141483480		2203	4300	6503	SO:0001583	missense	7350	exon5			CTGTTGCGCAAAA	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.676G>A	4.37:g.141483480C>T	ENSP00000262999:p.Ala226Thr		Somatic	122	0.0081967213	1		WXS	Illumina HiSeq	Phase_I	130	0.22	28	NM_021833	3	0.33	1	Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	C	3.469	-0.108249	0.06924	.	.	ENSG00000109424	ENST00000262999	T	0.80909	-1.43	5.83	0.593	0.17478	Mitochondrial carrier domain (2);	0.101076	0.64402	N	0.000003	T	0.56630	0.1998	N	0.11698	0.16	0.30256	N	0.793597	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.46871	-0.9160	10	0.06757	T	0.87	.	8.6866	0.34240	0.0:0.3405:0.0:0.6595	.	225;226	Q4KMT7;P25874	.;UCP1_HUMAN	T	226	ENSP00000262999:A226T	ENSP00000262999:A226T	A	-	1	0	UCP1	141702930	1.000000	0.71417	0.619000	0.29118	0.257000	0.26127	1.798000	0.38814	-0.099000	0.12263	-0.312000	0.09012	GCA			0.458	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257273.1			
PPID	5481	broad.mit.edu	37	4	159630976	159630976	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:159630976G>T	ENST00000307720.3	-	10	1132	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	342	Interaction with HSP90AB1. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TGCCTGGATAGCTGTAAAATA	0.303																																					p.A342D													.	PPID	22		0			c.C1025A												115.0	105.0	108.0					4																	159630976		2203	4296	6499	SO:0001630	splice_region_variant	5481	exon10			TGGATAGCTGTAA		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.1025-1C>A	4.37:g.159630976G>T			Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	78	0.04	3	NM_005038	230	0.00	0	B2R9V2	Splice_Site	SNP	ENST00000307720.3	37	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422674	0.83559	.	.	ENSG00000171497	ENST00000307720	T	0.73469	-0.75	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.000000	0.40385	N	0.001102	D	0.84206	0.5421	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	T	0.80469	-0.1369	10	0.35671	T	0.21	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	342	Q08752	PPID_HUMAN	D	342	ENSP00000303754:A342D	ENSP00000303754:A342D	A	-	2	0	PPID	159850426	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.469000	0.80959	2.941000	0.99782	0.655000	0.94253	GCT			0.303	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366436.1		NM_005038	Missense_Mutation
RAPGEF2	9693	broad.mit.edu	37	4	160273959	160273959	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:160273959G>T	ENST00000264431.4	+	21	3924	c.3505G>T	c.(3505-3507)Gat>Tat	p.D1169Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1169					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTCACTGCACGATGAGAGGCG	0.463																																					p.D1169Y													.	RAPGEF2	171		0			c.G3505T												123.0	117.0	119.0					4																	160273959		1958	4147	6105	SO:0001583	missense	9693	exon21			CTGCACGATGAGA	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3505G>T	4.37:g.160273959G>T	ENSP00000264431:p.Asp1169Tyr		Somatic	212	0.0094339623	2		WXS	Illumina HiSeq	Phase_I	205	0.03	6	NM_014247	10	0.00	0	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.203398|4.203398	0.79127|0.79127	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000505026	T|.	0.52295|.	0.67|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.195954|.	0.52532|.	D|.	0.000078|.	T|T	0.74680|0.74680	0.3748|0.3748	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68621|.	0.959|.	T|T	0.71111|0.71111	-0.4687|-0.4687	10|5	0.59425|.	D|.	0.04|.	.|.	19.9832|19.9832	0.97338|0.97338	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1169|.	Q9Y4G8|.	RPGF2_HUMAN|.	Y|L	1169|103	ENSP00000264431:D1169Y|.	ENSP00000264431:D1169Y|.	D|R	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160493409|160493409	1.000000|1.000000	0.71417|0.71417	0.298000|0.298000	0.25002|0.25002	0.822000|0.822000	0.46500|0.46500	6.778000|6.778000	0.75043|0.75043	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAT|CGA			0.463	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364980.2		NM_014247	
DDX60	55601	broad.mit.edu	37	4	169208307	169208307	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:169208307G>T	ENST00000393743.3	-	10	1522	c.1231C>A	c.(1231-1233)Ctc>Atc	p.L411I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	411					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTATTCCAGAGATATTCATAA	0.358																																					p.L411I													.	DDX60	304		0			c.C1231A												80.0	77.0	78.0					4																	169208307		2203	4299	6502	SO:0001583	missense	55601	exon10			TCCAGAGATATTC	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1231C>A	4.37:g.169208307G>T	ENSP00000377344:p.Leu411Ile		Somatic	280	0	0		WXS	Illumina HiSeq	Phase_I	261	0.02	4	NM_017631	1	0.00	0	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988983	0.35131	.	.	ENSG00000137628	ENST00000393743	T	0.34072	1.38	4.72	3.72	0.42706	.	0.000000	0.46758	D	0.000261	T	0.56848	0.2013	M	0.77820	2.39	0.25506	N	0.987502	D	0.89917	1.0	D	0.91635	0.999	T	0.46400	-0.9194	10	0.51188	T	0.08	.	9.9394	0.41572	0.145:0.0:0.855:0.0	.	411	Q8IY21	DDX60_HUMAN	I	411	ENSP00000377344:L411I	ENSP00000377344:L411I	L	-	1	0	DDX60	169444882	0.997000	0.39634	0.995000	0.50966	0.089000	0.18198	1.408000	0.34668	2.149000	0.67028	0.467000	0.42956	CTC			0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364622.1		NM_017631	
TRIP13	9319	mdanderson.org	37	5	893199	893199	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:893199G>T	ENST00000166345.3	+	1	442	c.86G>T	c.(85-87)gGc>gTc	p.G29V	BRD9_ENST00000483173.1_5'Flank|BRD9_ENST00000435709.2_5'Flank|BRD9_ENST00000467963.1_5'Flank	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	29					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CATCAGCGCGGCAGCAGGTGA	0.706																																					p.G29V													.	.			0			c.G86T												18.0	16.0	17.0					5																	893199		2180	4277	6457	SO:0001583	missense	9319	exon1			AGCGCGGCAGCAG	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.86G>T	5.37:g.893199G>T	ENSP00000166345:p.Gly29Val		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	28	0.11	3	NM_001166260	21	0.00	0	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704448	0.15172	.	.	ENSG00000071539	ENST00000166345;ENST00000354240	D	0.94376	-3.41	3.86	3.86	0.44501	.	0.435189	0.24215	U	0.040493	T	0.81202	0.4773	N	0.02539	-0.55	0.22779	N	0.998748	B	0.02656	0.0	B	0.04013	0.001	T	0.70174	-0.4944	10	0.29301	T	0.29	-0.4666	10.3823	0.44119	0.0:0.3419:0.6581:0.0	.	29	Q15645	PCH2_HUMAN	V	29	ENSP00000166345:G29V	ENSP00000166345:G29V	G	+	2	0	TRIP13	946199	0.105000	0.21958	0.639000	0.29394	0.588000	0.36517	2.317000	0.43770	1.699000	0.51192	0.297000	0.19635	GGC			0.706	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206721.2		NM_004237	
PDZD2	23037	broad.mit.edu	37	5	32098547	32098547	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:32098547C>T	ENST00000438447.1	+	23	8413	c.8025C>T	c.(8023-8025)aaC>aaT	p.N2675N	PDZD2_ENST00000282493.3_Silent_p.N2675N			O15018	PDZD2_HUMAN	PDZ domain containing 2	2675	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGTCAGTCAACGGCGCCTCAC	0.567																																					p.N2675N													.	PDZD2	306		0			c.C8025T												66.0	68.0	67.0					5																	32098547		2203	4300	6503	SO:0001819	synonymous_variant	23037	exon22			AGTCAACGGCGCC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8025C>T	5.37:g.32098547C>T			Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	119	0.03	4	NM_178140	6	0.00	0	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																					0.567	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366608.1			
NPR3	4883	broad.mit.edu	37	5	32789680	32789680	+	3'UTR	DEL	C	C	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:32789680delC	ENST00000265074.8	+	0	5198				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.S58fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTTCTCCTTTCTCTTAAATTC	0.398																																					.													.	NPR3	65		0			.												92.0	92.0	92.0					5																	32789680		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0	.			TCCTTTCTCTTAA		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3229C>-	5.37:g.32789680delC			Somatic	298	0	0		WXS	Illumina HiSeq	Phase_I	287	0.02	7	.	0		0	A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	CCDS56357.1																																																																																					0.398	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317550.3		NM_000908	
ADAMTS12	81792	broad.mit.edu	37	5	33614434	33614434	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:33614434G>T	ENST00000504830.1	-	16	2771	c.2436C>A	c.(2434-2436)atC>atA	p.I812I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.I727I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	812	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATCTTTCTGGATTGTGTACT	0.478										HNSCC(64;0.19)																											p.I812I													.	ADAMTS12	464		0			c.C2436A												206.0	151.0	169.0					5																	33614434		2203	4300	6503	SO:0001819	synonymous_variant	81792	exon16			TTTCTGGATTGTG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2436C>A	5.37:g.33614434G>T			Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	91	0.04	4	NM_030955	1	0.00	0	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																					0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367164.2		NM_030955	
OSMR	9180	broad.mit.edu	37	5	38933393	38933393	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:38933393G>T	ENST00000274276.3	+	18	3189	c.2787G>T	c.(2785-2787)aaG>aaT	p.K929N		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	929					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGGAGACAAGGACAGTCTCC	0.488																																					p.K929N													.	OSMR	133		0			c.G2787T												100.0	103.0	102.0					5																	38933393		2203	4300	6503	SO:0001583	missense	9180	exon18			AGACAAGGACAGT	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2787G>T	5.37:g.38933393G>T	ENSP00000274276:p.Lys929Asn		Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	235	0.01	3	NM_003999	2	0.00	0	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464811	0.63513	.	.	ENSG00000145623	ENST00000274276	T	0.50001	0.76	5.58	2.35	0.29111	.	0.231055	0.30593	N	0.009288	T	0.54175	0.1842	L	0.55481	1.735	0.21445	N	0.999689	D	0.63880	0.993	P	0.62435	0.902	T	0.40720	-0.9548	10	0.66056	D	0.02	.	5.9558	0.19273	0.1934:0.1636:0.643:0.0	.	929	Q99650	OSMR_HUMAN	N	929	ENSP00000274276:K929N	ENSP00000274276:K929N	K	+	3	2	OSMR	38969150	0.995000	0.38212	0.310000	0.25168	0.906000	0.53458	1.233000	0.32648	0.695000	0.31675	0.655000	0.94253	AAG			0.488	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000207609.2		NM_003999	
RICTOR	253260	broad.mit.edu;bcgsc.ca	37	5	38958837	38958837	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:38958837G>T	ENST00000357387.3	-	23	2305	c.2275C>A	c.(2275-2277)Cta>Ata	p.L759I	RICTOR_ENST00000296782.5_Missense_Mutation_p.L759I|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTATCATGTAGCTGGGTCACT	0.333																																					p.L759I													.	RICTOR	182		0			c.C2275A												90.0	91.0	91.0					5																	38958837		2203	4299	6502	SO:0001583	missense	253260	exon23			CATGTAGCTGGGT		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2275C>A	5.37:g.38958837G>T	ENSP00000349959:p.Leu759Ile		Somatic	198	0.0050505051	1		WXS	Illumina HiSeq	Phase_I	176	0.03	6	NM_152756	1	0.00	0		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112537	0.77210	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.75050	-0.46;-0.9	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84732	0.5537	M	0.73217	2.22	0.58432	D	0.999998	D;D	0.67145	0.972;0.996	D;D	0.75484	0.924;0.986	D	0.86125	0.1571	10	0.87932	D	0	-7.3862	14.4741	0.67535	0.0731:0.0:0.9269:0.0	.	759;759	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	759	ENSP00000349959:L759I;ENSP00000296782:L759I	ENSP00000296782:L759I	L	-	1	2	RICTOR	38994594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.277000	0.65586	2.616000	0.88540	0.563000	0.77884	CTA			0.333	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366985.1		NM_152756	
WDR41	55255	broad.mit.edu	37	5	76736715	76736715	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:76736715G>T	ENST00000296679.4	-	9	1180	c.805C>A	c.(805-807)Ctg>Atg	p.L269M	WDR41_ENST00000507029.1_Missense_Mutation_p.L214M|WDR41_ENST00000414719.2_Missense_Mutation_p.L15M	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	269						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TGGGTGTCCAGTTGTGGAGAT	0.438																																					p.L269M													.	WDR41	29		0			c.C805A												134.0	132.0	133.0					5																	76736715		2203	4300	6503	SO:0001583	missense	55255	exon9			TGTCCAGTTGTGG	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.805C>A	5.37:g.76736715G>T	ENSP00000296679:p.Leu269Met		Somatic	90	0.0111111111	1		WXS	Illumina HiSeq	Phase_I	98	0.04	4	NM_018268	33	0.03	1	B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	CCDS4038.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.82|13.82	2.349724|2.349724	0.41599|0.41599	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791|ENST00000511630	T;T;T;T;T;T|.	0.68331|.	-0.28;-0.25;-0.28;-0.28;-0.32;1.48|.	5.95|5.95	5.08|5.08	0.68730|0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.534882|.	0.20407|.	N|.	0.092921|.	T|T	0.52613|0.52613	0.1745|0.1745	L|L	0.51422|0.51422	1.61|1.61	0.24066|0.24066	N|N	0.995999|0.995999	B;B;P|.	0.38642|.	0.257;0.257;0.641|.	B;B;B|.	0.35353|.	0.201;0.201;0.101|.	T|T	0.46005|0.46005	-0.9222|-0.9222	10|5	0.33940|.	T|.	0.23|.	0.2804|0.2804	14.8026|14.8026	0.69926|0.69926	0.0:0.2727:0.7273:0.0|0.0:0.2727:0.7273:0.0	.|.	214;15;269|.	B4DT55;B4E2L4;Q9HAD4|.	.;.;WDR41_HUMAN|.	M|K	269;15;204;214;40;61|94	ENSP00000296679:L269M;ENSP00000392931:L15M;ENSP00000426499:L204M;ENSP00000424287:L214M;ENSP00000427291:L40M;ENSP00000423540:L61M|.	ENSP00000296679:L269M|.	L|N	-|-	1|3	2|2	WDR41|WDR41	76772471|76772471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.770000|0.770000	0.43624|0.43624	1.089000|1.089000	0.30890|0.30890	1.503000|1.503000	0.48686|0.48686	0.650000|0.650000	0.86243|0.86243	CTG|AAC			0.438	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000220014.2		NM_018268	
MSH3	4437	broad.mit.edu	37	5	80160704	80160704	+	Missense_Mutation	SNP	G	G	T	rs375336744		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:80160704G>T	ENST00000265081.6	+	22	3153	c.3073G>T	c.(3073-3075)Gtg>Ttg	p.V1025L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1025					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTCACACCAGGTGGGGAATTA	0.388								Mismatch excision repair (MMR)																													p.V1025L	Melanoma(88;1010 1399 13793 26548 36275)												.	MSH3	129		0			c.G3073T												108.0	104.0	105.0					5																	80160704		2203	4300	6503	SO:0001583	missense	4437	exon22			CACCAGGTGGGGA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3073G>T	5.37:g.80160704G>T	ENSP00000265081:p.Val1025Leu		Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	140	0.04	5	NM_002439	24	0.00	0	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767130	0.69878	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87729	-2.29	5.88	5.88	0.94601	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	L	0.45051	1.395	0.47511	D	0.999446	D	0.89917	1.0	D	0.87578	0.998	D	0.89529	0.3784	9	.	.	.	-17.7445	20.2371	0.98361	0.0:0.0:1.0:0.0	.	1025	P20585	MSH3_HUMAN	L	1025;1016	ENSP00000265081:V1025L	.	V	+	1	0	MSH3	80196460	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	8.031000	0.88826	2.788000	0.95919	0.555000	0.69702	GTG			0.388	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369471.1		NM_002439	
GPR98	84059	broad.mit.edu	37	5	89918485	89918485	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:89918485G>T	ENST00000405460.2	+	5	621	c.525G>T	c.(523-525)aaG>aaT	p.K175N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	175	Calx-beta 2. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K175N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGGGAAAAGGGAACCTATG	0.368																																					p.K175N													GPR98,NS,carcinoma,0,1	GPR98	605	1	1	Substitution - Missense(1)	lung(1)	c.G525T												64.0	63.0	64.0					5																	89918485		1867	4116	5983	SO:0001583	missense	84059	exon5			GGAAAAGGGAACC	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.525G>T	5.37:g.89918485G>T	ENSP00000384582:p.Lys175Asn		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	336	0.01	4	NM_032119	0		0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975558	0.74360	.	.	ENSG00000164199	ENST00000508842;ENST00000405460;ENST00000296619;ENST00000399043	T;T	0.58797	0.31;1.72	5.85	1.23	0.21249	Na-Ca exchanger/integrin-beta4 (2);	0.045251	0.85682	D	0.000000	T	0.72285	0.3441	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71337	-0.4623	10	0.72032	D	0.01	.	10.12	0.42614	0.6999:0.0:0.3001:0.0	.	175	Q8WXG9	GPR98_HUMAN	N	147;175;175;175	ENSP00000425936:K147N;ENSP00000384582:K175N	ENSP00000296619:K175N	K	+	3	2	GPR98	89954241	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	0.949000	0.29109	-0.013000	0.14199	0.655000	0.94253	AAG			0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369993.2		NM_032119	
SLCO4C1	353189	broad.mit.edu	37	5	101631695	101631695	+	Missense_Mutation	SNP	C	C	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:101631695C>G	ENST00000310954.6	-	1	558	c.272G>C	c.(271-273)aGg>aCg	p.R91T		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATGGAAGTTCCTCCAGCCGTA	0.582																																					p.R91T													.	SLCO4C1	113		0			c.G272C												77.0	78.0	78.0					5																	101631695		2203	4300	6503	SO:0001583	missense	353189	exon1			AAGTTCCTCCAGC	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.272G>C	5.37:g.101631695C>G	ENSP00000309741:p.Arg91Thr		Somatic	198	0	0		WXS	Illumina HiSeq	Phase_I	212	0.04	8	NM_180991	1	0.00	0		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	5.557	0.287623	0.10513	.	.	ENSG00000173930	ENST00000310954	T	0.37584	1.19	4.16	4.16	0.48862	Major facilitator superfamily domain, general substrate transporter (1);	0.506647	0.16749	N	0.201107	T	0.33177	0.0854	L	0.44542	1.39	0.27125	N	0.962032	B	0.20052	0.041	B	0.27887	0.084	T	0.15549	-1.0433	10	0.22706	T	0.39	.	14.7976	0.69889	0.0:1.0:0.0:0.0	.	91	Q6ZQN7	SO4C1_HUMAN	T	91	ENSP00000309741:R91T	ENSP00000309741:R91T	R	-	2	0	SLCO4C1	101659594	0.957000	0.32711	0.147000	0.22382	0.042000	0.13812	4.252000	0.58785	2.121000	0.65114	0.591000	0.81541	AGG			0.582	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370332.1		NM_180991	
BCLAF1P1	728366	bcgsc.ca	37	5	110284092	110284092	+	IGR	SNP	A	A	G	rs367881369		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:110284092A>G								SLC25A46 (183235 upstream) : CTC-551A13.1 (22557 downstream)																							AAGGTTCCTCATGGTTGGCTA	0.378																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TTCCTCATGGTTG																													5.37:g.110284092A>G			Somatic	58	0	0		WXS	Illumina HiSeq	Phase_1	74	0.12	9	.	3	1.00	3		RNA	SNP		37																																																																																					0	0.378										
BCLAF1P1	728366	bcgsc.ca	37	5	110284097	110284097	+	IGR	SNP	T	T	C	rs370268370		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:110284097T>C								SLC25A46 (183240 upstream) : CTC-551A13.1 (22552 downstream)																							TCCTCATGGTTGGCTAACTCC	0.388																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CATGGTTGGCTAA																													5.37:g.110284097T>C			Somatic	61	0	0		WXS	Illumina HiSeq	Phase_1	76	0.11	8	.	3	0.67	2		RNA	SNP		37																																																																																					0	0.388										
ZRSR1	7310	ucsc.edu	37	5	112228215	112228215	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:112228215C>T	ENST00000391338.1	+	1	903	c.879C>T	c.(877-879)aaC>aaT	p.N293N	REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000506997.1_3'UTR	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	293	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						CTCTGTTTAACGGACGATGGT	0.463																																					.													.	SRP19	12		0			.																																									SO:0001819	synonymous_variant	7905	.			GTTTAACGGACGA	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.879C>T	5.37:g.112228215C>T			Somatic	336	0	0		RNA-Seq	Illumina HiSeq		331	0.01	2	.	35	0.89	31	B2R901|Q13570|Q2M3R8	Silent	SNP	ENST00000391338.1	37																																																																																						0.463	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000371801.1	rescued with RNA-seq	NM_005083	
SLC22A4	6583	broad.mit.edu	37	5	131676374	131676374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:131676374C>T	ENST00000200652.3	+	9	1735	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	521					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AACCTTAGAGCAGATGCAGAA	0.418																																					p.Q521X													.	SLC22A4	45		0			c.C1561T												160.0	152.0	155.0					5																	131676374		2203	4300	6503	SO:0001587	stop_gained	6583	exon9			TTAGAGCAGATGC	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1561C>T	5.37:g.131676374C>T	ENSP00000200652:p.Gln521*		Somatic	107	0	0		WXS	Illumina HiSeq	Phase_I	142	0.02	3	NM_003059	0		0	O14546	Nonsense_Mutation	SNP	ENST00000200652.3	37	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195675	0.94960	.	.	ENSG00000197208	ENST00000200652	.	.	.	5.07	3.25	0.37280	.	0.128122	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.1279	0.81406	0.0:0.4783:0.5217:0.0	.	.	.	.	X	521	.	ENSP00000200652:Q521X	Q	+	1	0	SLC22A4	131704273	0.700000	0.27796	0.989000	0.46669	0.603000	0.37013	1.355000	0.34068	0.502000	0.28037	-0.302000	0.09304	CAG			0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132661.1		NM_003059	
EGR1	1958	broad.mit.edu	37	5	137802588	137802588	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:137802588G>T	ENST00000239938.4	+	2	722	c.450G>T	c.(448-450)tgG>tgT	p.W150C		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	150					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.W150*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACACCTTGTGGCCCGAGCCCC	0.632																																					p.W150C													EGR1,colon,carcinoma,0,1	EGR1	52	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.G450T												94.0	99.0	97.0					5																	137802588		2203	4300	6503	SO:0001583	missense	1958	exon2			CTTGTGGCCCGAG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.450G>T	5.37:g.137802588G>T	ENSP00000239938:p.Trp150Cys		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	139	0.04	6	NM_001964	15	0.00	0		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621211	0.66787	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.38560	1.13	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.64404	1.975	0.80722	D	1	B	0.32543	0.375	B	0.34242	0.178	T	0.46512	-0.9186	10	0.44086	T	0.13	-5.869	18.0413	0.89319	0.0:0.0:1.0:0.0	.	150	P18146	EGR1_HUMAN	C	150	ENSP00000239938:W150C	ENSP00000239938:W150C	W	+	3	0	EGR1	137830487	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.876000	0.87215	2.251000	0.74343	0.462000	0.41574	TGG			0.632	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251274.1		NM_001964	
NDST1	3340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	5	149932837	149932837	+	Nonsense_Mutation	SNP	T	T	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:149932837T>G	ENST00000261797.6	+	15	3094	c.2592T>G	c.(2590-2592)taT>taG	p.Y864*	NDST1_ENST00000523767.1_Nonsense_Mutation_p.Y807*|NDST1_ENST00000521752.1_3'UTR	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	864	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTGCTGTATAAGATGGGCC	0.547																																					p.Y864X													.	.			0			c.T2592G												245.0	239.0	241.0					5																	149932837		2203	4300	6503	SO:0001587	stop_gained	3340	exon15			GCTGTATAAGATG	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2592T>G	5.37:g.149932837T>G	ENSP00000261797:p.Tyr864*		Somatic	78	0	0		WXS	Illumina HiSeq	.	94	0.52	49	NM_001543	52	0.56	29	Q96E57	Nonsense_Mutation	SNP	ENST00000261797.6	37	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	T	44	10.828773	0.99474	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	.	.	.	4.79	0.862	0.19056	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	9.7325	0.40370	0.0:0.6163:0.0:0.3837	.	.	.	.	X	807;864	.	ENSP00000261797:Y864X	Y	+	3	2	NDST1	149913030	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.826000	0.39092	0.165000	0.19558	-0.220000	0.12472	TAT			0.547	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374314.2		NM_001543	
GRIA1	2890	broad.mit.edu	37	5	153026671	153026671	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:153026671G>T	ENST00000285900.5	+	3	747	c.404G>T	c.(403-405)aGc>aTc	p.S135I	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.S66I|GRIA1_ENST00000448073.4_Missense_Mutation_p.S145I|GRIA1_ENST00000340592.5_Missense_Mutation_p.S135I|GRIA1_ENST00000518783.1_Missense_Mutation_p.S145I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	135					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCCCTCATCAGCATCATTGAC	0.522																																					p.S145I													.	GRIA1	321		0			c.G434T												132.0	124.0	126.0					5																	153026671		2203	4300	6503	SO:0001583	missense	0	exon3			TCATCAGCATCAT		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.404G>T	5.37:g.153026671G>T	ENSP00000285900:p.Ser135Ile		Somatic	150	0	0		WXS	Illumina HiSeq	Phase_I	147	0.02	3	NM_001258021	9	0.00	0	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843754	0.71488	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.041745	0.85682	D	0.000000	D	0.85762	0.5772	L	0.43923	1.385	0.54753	D	0.999986	P;D;P;D;P	0.63046	0.87;0.992;0.87;0.99;0.836	P;P;P;P;P	0.54759	0.566;0.76;0.566;0.647;0.637	D	0.87140	0.2202	10	0.87932	D	0	.	18.489	0.90839	0.0:0.0:1.0:0.0	.	145;145;145;135;135	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	I	135;135;89;135;66;66;145;145	ENSP00000285900:S135I;ENSP00000339343:S135I;ENSP00000427864:S66I;ENSP00000442108:S66I;ENSP00000428994:S145I;ENSP00000415569:S145I	ENSP00000285900:S135I	S	+	2	0	GRIA1	153006864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.079000	0.50104	2.612000	0.88384	0.655000	0.94253	AGC			0.522	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252456.3			
GABRB2	2561	broad.mit.edu	37	5	160721152	160721152	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:160721152C>T	ENST00000393959.1	-	10	1474	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	GABRB2_ENST00000517547.1_Missense_Mutation_p.R294H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R454H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R391H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R492H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R454H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	492					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAGAATATGCGGGACCACCG	0.473																																					p.R492H													GABRB2_ENST00000274547,NS,carcinoma,-1,2	GABRB2	161	2	0			c.G1475A												136.0	131.0	132.0					5																	160721152		2203	4300	6503	SO:0001583	missense	0	exon11			AATATGCGGGACC		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1475G>A	5.37:g.160721152C>T	ENSP00000377531:p.Arg492His		Somatic	228	0.0043859649	1		WXS	Illumina HiSeq	Phase_I	172	0.02	4	NM_021911	0		0	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422556	0.96111	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95172	0.8435	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.995;1.0;0.995	D	0.95197	0.8313	10	0.87932	D	0	.	19.9447	0.97177	0.0:1.0:0.0:0.0	.	294;391;492;454	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	492;492;454;454;391;294	ENSP00000377531:R492H;ENSP00000274547:R492H;ENSP00000274546:R454H;ENSP00000429320:R454H;ENSP00000430532:R391H;ENSP00000429750:R294H	ENSP00000274547:R492H	R	-	2	0	GABRB2	160653730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.717000	0.84732	2.719000	0.93026	0.655000	0.94253	CGC			0.473	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252704.1			
WWC1	23286	broad.mit.edu	37	5	167719173	167719173	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:167719173C>T	ENST00000265293.4	+	1	518	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	WWC1_ENST00000521089.1_Silent_p.L6L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	6	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCGGCCGGAGCTGCCCCTGCC	0.726																																					p.L6L													.	WWC1	98		0			c.C16T												29.0	26.0	27.0					5																	167719173		2086	4160	6246	SO:0001819	synonymous_variant	23286	exon1			CCGGAGCTGCCCC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.16C>T	5.37:g.167719173C>T			Somatic	126	0.0079365079	1		WXS	Illumina HiSeq	Phase_I	150	0.02	3	NM_015238	1	0.00	0	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	CCDS4366.1																																																																																					0.726	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000252791.2		NM_015238	
STK10	6793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	171520918	171520918	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:171520918C>A	ENST00000176763.5	-	9	1395	c.1052G>T	c.(1051-1053)aGc>aTc	p.S351I	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	351					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCATTGAGGCTTGGCGGACT	0.522																																					p.S351I													.	.			0			c.G1052T												41.0	44.0	43.0					5																	171520918		2169	4288	6457	SO:0001583	missense	6793	exon9			TTGAGGCTTGGCG	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1052G>T	5.37:g.171520918C>A	ENSP00000176763:p.Ser351Ile		Somatic	141	0	0		WXS	Illumina HiSeq	.	164	0.48	78	NM_005990	34	0.56	19	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506631	0.26949	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.53857	0.6	4.78	3.91	0.45181	Protein kinase-like domain (1);	0.640066	0.16164	N	0.226607	T	0.47340	0.1440	M	0.62723	1.935	0.22034	N	0.999401	P	0.40970	0.734	B	0.36885	0.235	T	0.44375	-0.9332	10	0.56958	D	0.05	.	9.4435	0.38684	0.0:0.9001:0.0:0.0999	.	351	O94804	STK10_HUMAN	I	351	ENSP00000176763:S351I	ENSP00000176763:S351I	S	-	2	0	STK10	171453523	1.000000	0.71417	0.015000	0.15790	0.001000	0.01503	2.230000	0.42999	1.132000	0.42129	-0.150000	0.13652	AGC			0.522	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372374.2		NM_005990	
STC2	8614	broad.mit.edu	37	5	172750382	172750382	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:172750382G>T	ENST00000265087.4	-	3	1655	c.346C>A	c.(346-348)Cac>Aac	p.H116N	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	116					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGAACCTGTGCCGCAGAGCG	0.592																																					p.H116N													.	STC2	59		0			c.C346A												37.0	33.0	34.0					5																	172750382		2203	4300	6503	SO:0001583	missense	8614	exon3			ACCTGTGCCGCAG	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.346C>A	5.37:g.172750382G>T	ENSP00000265087:p.His116Asn		Somatic	183	0.0109289617	2		WXS	Illumina HiSeq	Phase_I	150	0.03	5	NM_003714	200	0.02	4		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.233125|4.233125	0.79688|0.79688	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000520648|ENST00000265087;ENST00000518455	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.097540	.|0.64402	.|D	.|0.000001	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.50919|0.50919	1.6|1.6	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.40398	.|0.716	.|B	.|0.43052	.|0.406	T|T	0.58696|0.58696	-0.7591|-0.7591	5|9	.|0.39692	.|T	.|0.17	-24.4682|-24.4682	19.2469|19.2469	0.93905|0.93905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116	.|O76061	.|STC2_HUMAN	E|N	69|116;31	.|.	.|ENSP00000265087:H116N	A|H	-|-	2|1	0|0	STC2|STC2	172682988|172682988	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.856000|0.856000	0.48823|0.48823	9.476000|9.476000	0.97823|0.97823	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GCA|CAC			0.592	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252965.1		NM_003714	
CDHR2	54825	broad.mit.edu	37	5	176002409	176002409	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:176002409G>T	ENST00000510636.1	+	9	1024	c.750G>T	c.(748-750)gtG>gtT	p.V250V	CDHR2_ENST00000261944.5_Silent_p.V250V|CDHR2_ENST00000506348.1_Silent_p.V250V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CGGCCTCTGTGGCTGAGGATG	0.627																																					p.V250V													.	CDHR2	152		0			c.G750T												78.0	78.0	78.0					5																	176002409		2203	4300	6503	SO:0001819	synonymous_variant	54825	exon9			CTCTGTGGCTGAG	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.750G>T	5.37:g.176002409G>T			Somatic	175	0.0057142857	1		WXS	Illumina HiSeq	Phase_I	125	0.03	4	NM_017675	0		0	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																					0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372201.1		NM_017675	
FGFR4	2264	broad.mit.edu	37	5	176519440	176519440	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:176519440G>T	ENST00000292408.4	+	7	1091	c.846G>T	c.(844-846)caG>caT	p.Q282H	FGFR4_ENST00000292410.3_Missense_Mutation_p.Q282H|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q282H|FGFR4_ENST00000393637.1_Missense_Mutation_p.Q282H|FGFR4_ENST00000393648.2_Missense_Mutation_p.Q282H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	282	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CCCACATCCAGTGGCTGAAGC	0.627										TSP Lung(9;0.080)																											p.Q282H													.	FGFR4	174		0			c.G846T												38.0	37.0	37.0					5																	176519440		2202	4299	6501	SO:0001583	missense	2264	exon6			CATCCAGTGGCTG	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.846G>T	5.37:g.176519440G>T	ENSP00000292408:p.Gln282His		Somatic	215	0.0093023256	2		WXS	Illumina HiSeq	Phase_I	254	0.02	4	NM_022963	58	0.00	0	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933632	0.73442	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.7	2.92	0.33932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.305959	0.36854	N	0.002364	T	0.73729	0.3624	L	0.49513	1.565	0.45962	D	0.998783	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.91635	0.999;0.998;0.994;0.999	T	0.72629	-0.4235	10	0.87932	D	0	.	8.2183	0.31526	0.2481:0.0:0.7519:0.0	.	282;282;282;282	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	H	282;282;282;282;282;394	ENSP00000292408:Q282H;ENSP00000377259:Q282H;ENSP00000424960:Q282H;ENSP00000292410:Q282H;ENSP00000377254:Q282H	ENSP00000292408:Q282H	Q	+	3	2	FGFR4	176452046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.577000	0.53885	0.531000	0.28639	0.561000	0.74099	CAG			0.627	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253410.1			
EXOC2	55770	broad.mit.edu	37	6	629857	629857	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:629857G>T	ENST00000230449.4	-	4	535	c.400C>A	c.(400-402)Ccg>Acg	p.P134T	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	134					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ATGCCAAGCGGGTTAGCAGGA	0.403																																					p.P134T													.	EXOC2	81		0			c.C400A												151.0	130.0	137.0					6																	629857		2203	4300	6503	SO:0001583	missense	55770	exon4			CAAGCGGGTTAGC	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.400C>A	6.37:g.629857G>T	ENSP00000230449:p.Pro134Thr		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	197	0.02	4	NM_018303	7	0.00	0	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021112	0.75275	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	T;T	0.57436	0.4;0.52	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72824	-0.4176	10	0.87932	D	0	-13.3632	19.7741	0.96385	0.0:0.0:1.0:0.0	.	134	Q96KP1	EXOC2_HUMAN	T	134	ENSP00000230449:P134T;ENSP00000406400:P134T	ENSP00000230449:P134T	P	-	1	0	EXOC2	574857	1.000000	0.71417	0.368000	0.25939	0.438000	0.31896	9.476000	0.97823	2.673000	0.90976	0.557000	0.71058	CCG			0.403	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039627.1		NM_018303	
BPHL	670	mdanderson.org	37	6	3119019	3119019	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:3119019G>T	ENST00000380379.5	+	1	94	c.45G>T	c.(43-45)ctG>ctT	p.L15L	BPHL_ENST00000380368.2_5'UTR|BPHL_ENST00000434640.1_Intron|BPHL_ENST00000380375.3_5'UTR	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	15					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCCTGCGGCTGCTTCTCTCAG	0.716																																					p.L15L													.	.			0			c.G45T												5.0	12.0	10.0					6																	3119019		632	1506	2138	SO:0001819	synonymous_variant	670	exon1			GCGGCTGCTTCTC	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.45G>T	6.37:g.3119019G>T			Somatic	23	0.0434782609	1		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_004332	25	0.00	0	Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	37	CCDS4483.2																																																																																					0.716	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039670.5			
F13A1	2162	broad.mit.edu	37	6	6305608	6305608	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:6305608G>T	ENST00000264870.3	-	3	560	c.295C>A	c.(295-297)Ctc>Atc	p.L99I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	99					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCCTGAAGAGATCCCTTCTG	0.493																																					p.L99I													.	F13A1	135		0			c.C295A												197.0	158.0	171.0					6																	6305608		2203	4300	6503	SO:0001583	missense	2162	exon3			TGAAGAGATCCCT	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.295C>A	6.37:g.6305608G>T	ENSP00000264870:p.Leu99Ile		Somatic	146	0.0068493151	1		WXS	Illumina HiSeq	Phase_I	236	0.01	3	NM_000129	1	0.00	0	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.161092	0.21538	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.84730	-1.89;-1.89	5.57	-2.67	0.06059	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.075970	0.07153	N	0.849503	T	0.60025	0.2237	L	0.38531	1.155	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.49390	-0.8945	10	0.20046	T	0.44	.	12.1847	0.54231	0.5672:0.0:0.4328:0.0	.	99	P00488	F13A_HUMAN	I	99;99;137	ENSP00000264870:L99I;ENSP00000413334:L99I	ENSP00000264870:L99I	L	-	1	0	F13A1	6250607	0.083000	0.21467	0.162000	0.22713	0.886000	0.51366	-0.894000	0.04123	-0.458000	0.07023	0.650000	0.86243	CTC			0.493	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039756.3		NM_000129	
CMAHP	8418	broad.mit.edu	37	6	25089567	25089568	+	RNA	INS	-	-	A	rs185289496|rs3838674|rs370650178	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:25089567_25089568insA	ENST00000377989.4	-	0	1962							Q9Y471	CMAH_HUMAN	cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene						CMP-N-acetylneuraminate metabolic process (GO:0046381)	cytoplasm (GO:0005737)	2 iron, 2 sulfur cluster binding (GO:0051537)|oxidoreductase activity (GO:0016491)			NS(1)	1						ATGCAGTCTGCCCCAGCTTCAC	0.505													A|-|A|deletion	1250	0.249601	0.2065	0.3069	5008	,	,		17119	0.2837		0.2465	False		,,,				2504	0.2352				.													.	CMAHP	6		0			.																																											0	.			AGTCTGCCCCAGC			6p23-p22	2011-04-28	2011-04-28	2011-04-28	ENSG00000168405	ENSG00000168405			2098	pseudogene	pseudogene		603209	"""cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)"""	CMAH		7608218, 9624188	Standard	NR_002174		Approved		uc003ner.4	Q9Y471	OTTHUMG00000016099		6.37:g.25089567_25089568insA			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	11	0.55	6	.	0		0	O95250|Q5TD41|Q5TD42|Q5TD43|Q5TD44|Q68DC3|Q9UEE7	RNA	INS	ENST00000377989.4	37																																																																																						0.505	CMAHP-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000043292.2		NR_002174	
TRIM38	10475	broad.mit.edu	37	6	25967154	25967154	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:25967154G>T	ENST00000357085.3	+	3	880	c.404G>T	c.(403-405)gGc>gTc	p.G135V	TRIM38_ENST00000349458.3_Missense_Mutation_p.G135V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	135					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GTATGCCAGGGCTACAAGGTG	0.537																																					p.G135V													.	TRIM38	50		0			c.G404T												49.0	51.0	50.0					6																	25967154		2203	4300	6503	SO:0001583	missense	10475	exon3			GCCAGGGCTACAA	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.404G>T	6.37:g.25967154G>T	ENSP00000349596:p.Gly135Val		Somatic	114	0.0087719298	1		WXS	Illumina HiSeq	Phase_I	143	0.03	5	NM_006355	8	0.00	0	B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.851583	0.51270	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.56103	0.48;0.48;0.48	4.37	-4.42	0.03579	.	1.710340	0.03217	N	0.176967	T	0.28267	0.0698	L	0.27053	0.805	0.09310	N	0.999999	D;D	0.58268	0.982;0.982	P;P	0.53450	0.726;0.726	T	0.23332	-1.0191	10	0.39692	T	0.17	.	6.8773	0.24153	0.6165:0.0:0.2496:0.1339	.	135;135	B2R862;O00635	.;TRI38_HUMAN	V	135	ENSP00000443976:G135V;ENSP00000230099:G135V;ENSP00000349596:G135V	ENSP00000230099:G135V	G	+	2	0	TRIM38	26075133	0.000000	0.05858	0.000000	0.03702	0.669000	0.39330	-2.012000	0.01451	-1.091000	0.03065	-0.225000	0.12378	GGC			0.537	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040076.2			
HIST1H1C	3006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	26056602	26056602	+	Missense_Mutation	SNP	G	G	C	rs200705328		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:26056602G>C	ENST00000343677.2	-	1	97	c.55C>G	c.(55-57)Cct>Gct	p.P19A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	19					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTCTTTACAGGGGCCTTCTCC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14840	0.0		0.0	False		,,,				2504	0.0				p.P19A													.	.			0			c.C55G							G	ALA/PRO	0,4402		0,0,2201	32.0	38.0	36.0		55	4.9	0.1	6		36	2,8590		0,2,4294	no	missense	HIST1H1C	NM_005319.3	27	0,2,6495	CC,CG,GG		0.0233,0.0,0.0154	benign	19/214	26056602	2,12992	2201	4296	6497	SO:0001583	missense	3006	exon1			TTACAGGGGCCTT	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.55C>G	6.37:g.26056602G>C	ENSP00000339566:p.Pro19Ala		Somatic	170	0	0		WXS	Illumina HiSeq	.	282	0.35	100	NM_005319	57	0.35	20	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.372	0.436826	0.12104	0.0	2.33E-4	ENSG00000187837	ENST00000343677	T	0.07444	3.19	5.73	4.86	0.63082	.	0.353403	0.25481	N	0.030375	T	0.01558	0.0050	N	0.08118	0	0.34847	D	0.741273	B	0.06786	0.001	B	0.04013	0.001	T	0.44174	-0.9345	10	0.33940	T	0.23	-13.3112	9.0882	0.36594	0.0794:0.2416:0.679:0.0	.	19	P16403	H12_HUMAN	A	19	ENSP00000339566:P19A	ENSP00000339566:P19A	P	-	1	0	HIST1H1C	26164581	0.986000	0.35501	0.121000	0.21740	0.003000	0.03518	1.169000	0.31871	1.562000	0.49601	0.655000	0.94253	CCT	0		0.607	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043372.1		NM_005319	
OR2B6	26212	broad.mit.edu	37	6	27925454	27925454	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:27925454G>T	ENST00000244623.1	+	1	436	c.436G>T	c.(436-438)Gct>Tct	p.A146S		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGTTGGCAGCTGCATCCTG	0.493																																					p.A146S													.	OR2B6	48		0			c.G436T												104.0	106.0	105.0					6																	27925454		2203	4300	6503	SO:0001583	missense	26212	exon1			TTGGCAGCTGCAT	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.436G>T	6.37:g.27925454G>T	ENSP00000244623:p.Ala146Ser		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	138	0.03	4	NM_012367	0		0	O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	4.821	0.152710	0.09185	.	.	ENSG00000124657	ENST00000244623	T	0.39997	1.05	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33553	U	0.004790	T	0.18341	0.0440	L	0.40543	1.245	0.27027	N	0.964325	P	0.35944	0.529	P	0.44696	0.458	T	0.14282	-1.0478	10	0.10377	T	0.69	.	7.7199	0.28725	0.1223:0.0:0.8776:0.0	.	146	P58173	OR2B6_HUMAN	S	146	ENSP00000244623:A146S	ENSP00000244623:A146S	A	+	1	0	OR2B6	28033433	0.001000	0.12720	0.992000	0.48379	0.804000	0.45430	0.911000	0.28584	1.964000	0.57103	0.563000	0.77884	GCT			0.493	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040165.1			
NEU1	4758	broad.mit.edu	37	6	31830433	31830433	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:31830433C>T	ENST00000375631.4	-	1	250	c.121G>A	c.(121-123)Gca>Aca	p.A41T		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	41					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CAGGAGGCTGCCAGAGACAGC	0.642																																					p.A41T													.	NEU1	21		0			c.G121A												92.0	62.0	73.0					6																	31830433		1511	2709	4220	SO:0001583	missense	4758	exon1			AGGCTGCCAGAGA	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.121G>A	6.37:g.31830433C>T	ENSP00000364782:p.Ala41Thr		Somatic	178	0.0112359551	2		WXS	Illumina HiSeq	Phase_I	242	0.02	6	NM_000434	96	0.00	0		Missense_Mutation	SNP	ENST00000375631.4	37	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533187	0.45073	.	.	ENSG00000204386	ENST00000375631	D	0.89415	-2.51	5.2	1.51	0.23008	.	0.643796	0.15484	N	0.259924	T	0.66025	0.2748	L	0.48362	1.52	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.52968	-0.8504	10	0.10111	T	0.7	-10.4701	7.1724	0.25726	0.0:0.6452:0.0:0.3548	.	41;41	E9PIF4;Q99519	.;NEUR1_HUMAN	T	41	ENSP00000364782:A41T	ENSP00000364782:A41T	A	-	1	0	NEU1	31938412	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.062000	0.11674	0.171000	0.19730	-0.136000	0.14681	GCA			0.642	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076616.2			
NOTCH4	4855	broad.mit.edu	37	6	32163486	32163486	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:32163486G>T	ENST00000375023.3	-	30	5878	c.5740C>A	c.(5740-5742)Cgt>Agt	p.R1914S	GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1914					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAAAACCTACGGCCGCGAGGG	0.677																																					p.R1914S													.	NOTCH4	201		0			c.C5740A												39.0	46.0	43.0					6																	32163486		1509	2708	4217	SO:0001583	missense	4855	exon30			ACCTACGGCCGCG		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5740C>A	6.37:g.32163486G>T	ENSP00000364163:p.Arg1914Ser		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	111	0.03	3	NM_004557	9	0.00	0	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247976	0.80024	.	.	ENSG00000204301	ENST00000375023	T	0.81247	-1.47	4.74	3.85	0.44370	.	0.169361	0.28572	N	0.014875	T	0.53626	0.1808	N	0.24115	0.695	0.40179	D	0.977264	P;P	0.42757	0.789;0.649	B;B	0.37550	0.235;0.253	T	0.61695	-0.7010	10	0.52906	T	0.07	.	10.3377	0.43860	0.0:0.0:0.8037:0.1963	.	1914;1913	Q99466;B0S882	NOTC4_HUMAN;.	S	1914	ENSP00000364163:R1914S	ENSP00000364163:R1914S	R	-	1	0	NOTCH4	32271464	0.001000	0.12720	0.123000	0.21794	0.869000	0.49853	0.823000	0.27366	1.321000	0.45227	0.650000	0.86243	CGT			0.677	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076045.2			
STK38	11329	broad.mit.edu	37	6	36463608	36463608	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:36463608G>T	ENST00000229812.7	-	14	1636	c.1351C>A	c.(1351-1353)Ctg>Atg	p.L451M		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTGCAGTCAGGCCCTCAAAG	0.448																																					p.L451M	Colon(180;997 3561 16158)												.	STK38	54		0			c.C1351A												220.0	190.0	200.0					6																	36463608		2203	4300	6503	SO:0001583	missense	11329	exon14			CAGTCAGGCCCTC		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1351C>A	6.37:g.36463608G>T	ENSP00000229812:p.Leu451Met		Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	179	0.02	4	NM_007271	21	0.00	0		Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096461	0.76870	.	.	ENSG00000112079	ENST00000229812	T	0.54866	0.55	6.16	6.16	0.99307	AGC-kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	L	0.49699	1.58	0.80722	D	1	D	0.56968	0.978	P	0.50537	0.643	T	0.44620	-0.9316	10	0.42905	T	0.14	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	451	Q15208	STK38_HUMAN	M	451	ENSP00000229812:L451M	ENSP00000229812:L451M	L	-	1	2	STK38	36571586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.679000	0.74513	2.937000	0.99478	0.650000	0.86243	CTG			0.448	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040346.1		NM_007271	
FGD2	221472	broad.mit.edu	37	6	36995746	36995746	+	Missense_Mutation	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:36995746T>C	ENST00000274963.8	+	16	1946	c.1775T>C	c.(1774-1776)aTc>aCc	p.I592T		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	592	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CACACCTCCATCCCCCTGCTG	0.637																																					p.I592T													.	FGD2	65		0			c.T1775C												47.0	40.0	42.0					6																	36995746		2203	4300	6503	SO:0001583	missense	221472	exon16			CCTCCATCCCCCT	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1775T>C	6.37:g.36995746T>C	ENSP00000274963:p.Ile592Thr		Somatic	143	0.0699300699	10		WXS	Illumina HiSeq	Phase_I	198	0.07	13	NM_173558	2	0.00	0	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634718	0.47049	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.60424	0.19	5.39	4.2	0.49525	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.44688	D	0.000431	T	0.44074	0.1276	L	0.61218	1.895	0.42033	D	0.991033	D	0.53619	0.961	P	0.44597	0.454	T	0.51426	-0.8707	10	0.87932	D	0	-6.958	11.0844	0.48078	0.0:0.0748:0.0:0.9252	.	592	Q7Z6J4	FGD2_HUMAN	T	592;220	ENSP00000274963:I592T	ENSP00000274963:I592T	I	+	2	0	FGD2	37103724	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.776000	0.68924	0.849000	0.35215	0.460000	0.39030	ATC			0.637	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040398.2		NM_173558	
DNAH8	1769	broad.mit.edu	37	6	38942237	38942237	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:38942237G>T	ENST00000359357.3	+	83	12369	c.12115G>T	c.(12115-12117)Gac>Tac	p.D4039Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.D4003Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4039	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACCTTCTGGACATCAGTAA	0.423																																					p.D4256Y													DNAH8_ENST00000359357,bladder,carcinoma,0,2	DNAH8	1239	2	0			c.G12766T												96.0	87.0	90.0					6																	38942237		2203	4300	6503	SO:0001583	missense	1769	exon85			CTTCTGGACATCA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12115G>T	6.37:g.38942237G>T	ENSP00000352312:p.Asp4039Tyr		Somatic	103	0.0097087379	1		WXS	Illumina HiSeq	Phase_I	177	0.04	7	NM_001206927	0		0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	23.8	4.458593	0.84317	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.09073	3.02;3.02;3.02	5.84	5.84	0.93424	Dynein heavy chain (1);	0.056597	0.64402	D	0.000002	T	0.26593	0.0650	M	0.88031	2.925	0.80722	D	1	D;D	0.56746	0.972;0.977	D;D	0.67231	0.917;0.95	T	0.02533	-1.1145	10	0.87932	D	0	.	15.2412	0.73471	0.0686:0.0:0.9313:0.0	.	4003;4039	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	Y	4244;4039;4003	ENSP00000333363:D4244Y;ENSP00000352312:D4039Y;ENSP00000402294:D4003Y	ENSP00000333363:D4244Y	D	+	1	0	DNAH8	39050215	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.693000	0.84214	2.764000	0.94973	0.655000	0.94253	GAC			0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000043574.1		NM_001206927	
TAF8	129685	broad.mit.edu	37	6	42025143	42025143	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:42025143G>T	ENST00000372977.3	+	5	399	c.381G>T	c.(379-381)caG>caT	p.Q127H	TAF8_ENST00000372982.4_Missense_Mutation_p.Q127H|TAF8_ENST00000456846.2_Missense_Mutation_p.Q127H|TAF8_ENST00000494547.1_Missense_Mutation_p.Q127H|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000372978.3_Missense_Mutation_p.Q127H|TAF8_ENST00000465926.1_Missense_Mutation_p.Q64H	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	127					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			TGACCAATCAGCCAGTGACCC	0.567																																					p.Q127H													.	TAF8	25		0			c.G381T												81.0	90.0	87.0					6																	42025143		1990	4159	6149	SO:0001583	missense	129685	exon5			CAATCAGCCAGTG	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.381G>T	6.37:g.42025143G>T	ENSP00000362068:p.Gln127His		Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	187	0.02	3	NM_138572	48	0.00	0	Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	CCDS43462.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142385	0.37825	.	.	ENSG00000137413	ENST00000372978;ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000465926	.	.	.	5.86	3.95	0.45737	.	0.390914	0.31797	N	0.007044	T	0.26159	0.0638	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.12013	0.001;0.003;0.005;0.002	B;B;B;B	0.16722	0.002;0.003;0.016;0.001	T	0.06445	-1.0826	9	0.15499	T	0.54	-21.6071	8.6273	0.33897	0.0717:0.0:0.6736:0.2547	.	64;127;127;127	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8	.;.;.;TAF8_HUMAN	H	127;127;127;127;127;64	.	ENSP00000362068:Q127H	Q	+	3	2	TAF8	42133121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.595000	0.24029	2.776000	0.95493	0.655000	0.94253	CAG			0.567	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000357901.1		NM_138572	
XPO5	57510	broad.mit.edu	37	6	43519113	43519113	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:43519113G>T	ENST00000265351.7	-	15	1860	c.1650C>A	c.(1648-1650)tcC>tcA	p.S550S	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	550	Necessary for interaction with ILF3.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TAAGGACGCAGGACAGGATGA	0.438																																					p.S550S													.	XPO5	79		0			c.C1650A												134.0	134.0	134.0					6																	43519113		1917	4134	6051	SO:0001819	synonymous_variant	57510	exon15			GACGCAGGACAGG	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1650C>A	6.37:g.43519113G>T			Somatic	224	0	0		WXS	Illumina HiSeq	Phase_I	325	0.01	3	NM_020750	63	0.00	0	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1																																																																																					0.438	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040657.2		NM_020750	
TCTE1	202500	broad.mit.edu	37	6	44248061	44248061	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:44248061G>T	ENST00000371505.4	-	5	1485	c.1363C>A	c.(1363-1365)Ctg>Atg	p.L455M	TCTE1_ENST00000371503.3_Missense_Mutation_p.L152M|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.L152M|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	455										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACATCTGACAGGCGCAAGTCA	0.582																																					p.L455M													.	TCTE1	77		0			c.C1363A												93.0	90.0	91.0					6																	44248061		2203	4300	6503	SO:0001583	missense	202500	exon5			CTGACAGGCGCAA	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1363C>A	6.37:g.44248061G>T	ENSP00000360560:p.Leu455Met		Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	270	0.01	3	NM_182539	1	0.00	0	B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910433	0.33721	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.53857	0.6;0.64;0.64	4.45	2.65	0.31530	.	0.000000	0.64402	D	0.000006	T	0.49932	0.1586	L	0.59436	1.845	0.20403	N	0.999903	D	0.89917	1.0	D	0.74023	0.982	T	0.40289	-0.9571	10	0.42905	T	0.14	-15.5112	9.3564	0.38168	0.2412:0.0:0.7588:0.0	.	455	Q5JU00	TCTE1_HUMAN	M	455;152;152	ENSP00000360560:L455M;ENSP00000360558:L152M;ENSP00000360559:L152M	ENSP00000360558:L152M	L	-	1	2	TCTE1	44356039	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.292000	0.43549	0.578000	0.29487	0.563000	0.77884	CTG			0.582	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040736.1		NM_182539	
GPR115	221393	broad.mit.edu	37	6	47678470	47678470	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:47678470G>T	ENST00000283303.2	+	4	406		c.e4-1		GPR115_ENST00000327753.3_Splice_Site|GPR115_ENST00000371220.1_Splice_Site	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTCTTTATAGAGAAATGCGA	0.383																																					.	GBM(22;431 510 9010 26644 32828)												.	GPR115	140		0			c.149-1G>T												54.0	59.0	57.0					6																	47678470		2203	4300	6503	SO:0001630	splice_region_variant	221393	exon4			TTTATAGAGAAAT	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.149-1G>T	6.37:g.47678470G>T			Somatic	153	0.0065359477	1		WXS	Illumina HiSeq	Phase_I	241	0.02	4	NM_153838	0		0	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Splice_Site	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411878	0.25465	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4919	0.75611	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR115	47786429	1.000000	0.71417	0.989000	0.46669	0.035000	0.12851	4.394000	0.59671	2.803000	0.96430	0.655000	0.94253	.			0.383	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040819.2		NM_153838	Intron
COL21A1	81578	broad.mit.edu	37	6	55989038	55989038	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:55989038G>T	ENST00000244728.5	-	15	2100	c.1703C>A	c.(1702-1704)gCt>gAt	p.A568D	COL21A1_ENST00000370819.1_Splice_Site_p.A565D|COL21A1_ENST00000535941.1_Splice_Site_p.A568D	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	568	Collagen-like 3.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAAACTCACAGCAGGTCCAGG	0.328																																					p.A568D													.	COL21A1	201		0			c.C1703A												39.0	37.0	38.0					6																	55989038		1838	4090	5928	SO:0001630	splice_region_variant	0	exon15			CTCACAGCAGGTC	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1704+1C>A	6.37:g.55989038G>T			Somatic	556	0	0		WXS	Illumina HiSeq	Phase_I	737	0.01	4	NM_030820	5	0.00	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703192	0.30232	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.93488	-3.23;-3.23;-3.23	4.36	4.36	0.52297	.	0.644940	0.13986	N	0.349140	T	0.77391	0.4123	N	0.16567	0.415	0.80722	D	1	P	0.38677	0.642	B	0.31812	0.136	T	0.76168	-0.3058	10	0.15499	T	0.54	.	12.7354	0.57220	0.0:0.0:1.0:0.0	.	568	Q96P44	COLA1_HUMAN	D	568;565;568;565	ENSP00000244728:A568D;ENSP00000359855:A565D;ENSP00000444384:A568D	ENSP00000244728:A568D	A	-	2	0	COL21A1	56096997	0.999000	0.42202	0.997000	0.53966	0.987000	0.75469	3.433000	0.52834	2.106000	0.64143	0.491000	0.48974	GCT			0.328	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041004.2			Missense_Mutation
EYS	346007	broad.mit.edu	37	6	66053998	66053998	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:66053998G>A	ENST00000370621.3	-	10	2058	c.1532C>T	c.(1531-1533)gCa>gTa	p.A511V	EYS_ENST00000370618.3_Missense_Mutation_p.A511V|EYS_ENST00000342421.5_Missense_Mutation_p.A511V|EYS_ENST00000503581.1_Missense_Mutation_p.A511V|EYS_ENST00000393380.2_Missense_Mutation_p.A511V|EYS_ENST00000370616.2_Missense_Mutation_p.A511V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	511					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.A511V(2)		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						CACATAGGTTGCATCTTCAGT	0.353																																					p.A511V													EYS_ENST00000370621,NS,carcinoma,0,2	EYS	527	2	2	Substitution - Missense(2)	kidney(2)	c.C1532T												97.0	99.0	98.0					6																	66053998		2203	4300	6503	SO:0001583	missense	346007	exon10			TAGGTTGCATCTT		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.1532C>T	6.37:g.66053998G>A	ENSP00000359655:p.Ala511Val		Somatic	295	0.0033898305	1		WXS	Illumina HiSeq	Phase_I	236	0.02	4	NM_001142801	0		0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	g	8.697	0.908815	0.17833	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	4.11	1.1	0.20463	.	.	.	.	.	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B;P;P	0.46784	0.386;0.884;0.816	B;B;B	0.40375	0.125;0.327;0.175	T	0.24012	-1.0172	9	0.62326	D	0.03	.	2.953	0.05868	0.1058:0.174:0.5416:0.1786	.	511;511;511	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	511	ENSP00000424243:A511V;ENSP00000359655:A511V;ENSP00000359650:A511V;ENSP00000377042:A511V;ENSP00000341818:A511V;ENSP00000359652:A511V	ENSP00000341818:A511V	A	-	2	0	EYS	66110719	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.380000	0.20602	0.157000	0.19338	0.591000	0.81541	GCA			0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351351.3		XM_294050	
DDX43	55510	mdanderson.org	37	6	74124407	74124407	+	Silent	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:74124407A>G	ENST00000370336.4	+	14	1901	c.1743A>G	c.(1741-1743)gcA>gcG	p.A581A	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	581	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGGAAGAGCAGGGTAAGTAA	0.413																																					p.A581A													.	.			0			c.A1743G												112.0	101.0	105.0					6																	74124407		2203	4300	6503	SO:0001819	synonymous_variant	55510	exon14			AAGAGCAGGGTAA		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1743A>G	6.37:g.74124407A>G			Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_018665	18	0.00	0	B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	CCDS4977.1																																																																																					0.413	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041219.3		NM_018665	
IBTK	25998	broad.mit.edu	37	6	82921250	82921251	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:82921250_82921251insC	ENST00000306270.7	-	14	2879_2880	c.2330_2331insG	c.(2329-2331)ggafs	p.G777fs	RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000503631.1_Frame_Shift_Ins_p.G576fs|IBTK_ENST00000510291.1_Frame_Shift_Ins_p.G777fs	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	777	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GAAATTCCTTTCCATCCACTGA	0.332																																					p.G777fs													.	IBTK	128		0			c.2331_2332insG																																									SO:0001589	frameshift_variant	25998	exon14			TTCCTTTCCATCC	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2331dupG	6.37:g.82921252_82921252dupC	ENSP00000305721:p.Gly777fs		Somatic	528	0	0		WXS	Illumina HiSeq	Phase_I	462	0.02	7	NM_015525	3	0.00	0	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Frame_Shift_Ins	INS	ENST00000306270.7	37	CCDS34490.1																																																																																					0.332	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041337.2		NM_015525	
ANKRD6	22881	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	90276740	90276740	+	Silent	SNP	C	C	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:90276740C>G	ENST00000522441.1	+	2	686	c.45C>G	c.(43-45)ctC>ctG	p.L15L	RP11-16C18.3_ENST00000438267.1_RNA|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000369408.5_Silent_p.L15L|ANKRD6_ENST00000447838.2_Silent_p.L15L|ANKRD6_ENST00000485637.1_Silent_p.L15L|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000520793.1_Silent_p.L15L|ANKRD6_ENST00000339746.4_Silent_p.L15L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	15					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCGCCTTCTCGTAGCTGCGT	0.493																																					p.L15L													.	ANKRD6	51		0			c.C45G												54.0	54.0	54.0					6																	90276740		1971	4160	6131	SO:0001819	synonymous_variant	22881	exon2			CCTTCTCGTAGCT	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.45C>G	6.37:g.90276740C>G			Somatic	310	0.0129032258	4		WXS	Illumina HiSeq	Phase_I	521	0.09	47	NM_001242809	1	0.00	0	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	CCDS56441.1																																																																																					0.493	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000376594.1			
AIM1	202	broad.mit.edu	37	6	107009345	107009345	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:107009345G>T	ENST00000369066.3	+	18	5371	c.4884G>T	c.(4882-4884)tgG>tgT	p.W1628C	AIM1_ENST00000535438.1_Missense_Mutation_p.W447C	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATCAGATTTGGATCTATCAAG	0.463																																					p.W1628C													.	AIM1	161		0			c.G4884T												106.0	108.0	107.0					6																	107009345		2203	4300	6503	SO:0001583	missense	202	exon18			GATTTGGATCTAT	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4884G>T	6.37:g.107009345G>T	ENSP00000358062:p.Trp1628Cys		Somatic	179	0.0167597765	3		WXS	Illumina HiSeq	Phase_I	153	0.03	4	NM_001624	12	0.00	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336491	0.81801	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	T;T	0.41758	0.99;0.99	5.68	5.68	0.88126	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64993	-0.6276	10	0.87932	D	0	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	447;1628	B4DU04;Q9Y4K1	.;AIM1_HUMAN	C	1628;447	ENSP00000358062:W1628C;ENSP00000439183:W447C	ENSP00000358062:W1628C	W	+	3	0	AIM1	107116038	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	8.707000	0.91367	2.689000	0.91719	0.655000	0.94253	TGG			0.463	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041669.1			
GPR6	2830	mdanderson.org	37	6	110300658	110300658	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:110300658G>A	ENST00000275169.3	+	1	361	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	GPR6_ENST00000414000.2_Missense_Mutation_p.A130T	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	115					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		AGGCAGCCTGGCCACCGCTGA	0.637																																					p.A115T													.	.			0			c.G343A												100.0	89.0	92.0					6																	110300658		2203	4300	6503	SO:0001583	missense	2830	exon1			AGCCTGGCCACCG		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.343G>A	6.37:g.110300658G>A	ENSP00000275169:p.Ala115Thr		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_005284	2	0.00	0	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174842	0.78564	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.56103	0.48;0.48	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.996	T	0.73987	-0.3809	10	0.66056	D	0.02	.	13.2187	0.59875	0.0798:0.0:0.9202:0.0	.	130;115	B4DHS9;P46095	.;GPR6_HUMAN	T	115;130;115	ENSP00000406986:A130T;ENSP00000275169:A115T	ENSP00000275169:A115T	A	+	1	0	GPR6	110407351	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.823000	0.86660	2.434000	0.82447	0.462000	0.41574	GCC			0.637	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041774.1			
KIAA1919	91749	mdanderson.org	37	6	111580906	111580906	+	Start_Codon_SNP	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:111580906G>T	ENST00000368847.4	+	1	356	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-428F8.2_ENST00000425364.1_RNA	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	1					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CCACCTTGATGCTGTGTGCCT	0.672																																					p.M1I													.	.			0			c.G3T												57.0	47.0	50.0					6																	111580906		2202	4299	6501	SO:0001582	initiator_codon_variant	91749	exon1			CTTGATGCTGTGT	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.3G>T	6.37:g.111580906G>T	ENSP00000357840:p.Met1Ile		Somatic	44	0.0227272727	1		WXS	Illumina HiSeq	Phase_I	62	0.08	5	NM_153369	1	0.00	0	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	0.417	-0.910252	0.02434	.	.	ENSG00000173214	ENST00000368847	T	0.38077	1.16	5.1	-0.425	0.12317	Major facilitator superfamily domain, general substrate transporter (1);	1.691970	0.03262	N	0.183387	T	0.16642	0.0400	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52426	-0.8577	9	0.23302	T	0.38	-0.0061	20.0784	0.97758	0.0:0.3499:0.6501:0.0	.	1	Q5TF39	NAGT1_HUMAN	I	1	ENSP00000357840:M1I	ENSP00000357840:M1I	M	+	3	0	KIAA1919	111687599	0.005000	0.15991	0.164000	0.22755	0.048000	0.14542	-0.681000	0.05191	0.019000	0.15079	-0.280000	0.10049	ATG			0.672	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041827.1		NM_153369	Missense_Mutation
SLC35F1	222553	broad.mit.edu	37	6	118596709	118596709	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:118596709G>T	ENST00000360388.4	+	5	926	c.725G>T	c.(724-726)cGa>cTa	p.R242L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	242					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R242Q(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TACATCATCCGAACTCTGAGC	0.423																																					p.R242L													SLC35F1,rectum,carcinoma,+1,2	SLC35F1	65	2	1	Substitution - Missense(1)	large_intestine(1)	c.G725T												113.0	111.0	112.0					6																	118596709		2203	4300	6503	SO:0001583	missense	222553	exon5			TCATCCGAACTCT	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.725G>T	6.37:g.118596709G>T	ENSP00000353557:p.Arg242Leu		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	233	0.03	6	NM_001029858	2	0.00	0	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641442	0.67244	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.07	5.07	0.68467	.	0.144445	0.44285	D	0.000480	T	0.52917	0.1764	L	0.31578	0.945	0.53688	D	0.999973	P	0.47545	0.897	P	0.53593	0.73	T	0.55860	-0.8074	9	0.56958	D	0.05	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	242	Q5T1Q4	S35F1_HUMAN	L	242	.	ENSP00000353557:R242L	R	+	2	0	SLC35F1	118703402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.635000	0.74295	2.780000	0.95670	0.655000	0.94253	CGA			0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041991.2		XM_167044	
ALDH8A1	64577	broad.mit.edu	37	6	135239750	135239750	+	Missense_Mutation	SNP	C	C	T	rs148331222		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:135239750C>T	ENST00000265605.2	-	7	1335	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.V369M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.V373M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	423					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTGGACCACACGGTAGCCGCC	0.557																																					p.V423M													.	ALDH8A1	68		0			c.G1267A							C	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	129.0	87.0	101.0		1117,1267,1105	6.1	1.0	6	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense,missense	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	373/438,423/488,369/434	135239750	1,13005	2203	4300	6503	SO:0001583	missense	64577	exon7			ACCACACGGTAGC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1267G>A	6.37:g.135239750C>T	ENSP00000265605:p.Val423Met		Somatic	249	0	0		WXS	Illumina HiSeq	Phase_I	227	0.03	6	NM_022568	0		0	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658889	0.67586	2.27E-4	0.0	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	D;T;D;D	0.83163	-1.69;1.15;-1.69;-1.69	6.07	6.07	0.98685	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050023	0.85682	D	0.000000	D	0.93294	0.7863	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.975;0.986	D	0.93614	0.6941	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	373;369;423	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	423;369;373;108	ENSP00000265605:V423M;ENSP00000356819:V369M;ENSP00000356821:V373M;ENSP00000437161:V108M	ENSP00000265605:V423M	V	-	1	0	ALDH8A1	135281443	1.000000	0.71417	0.960000	0.40013	0.046000	0.14306	4.743000	0.62110	2.884000	0.98904	0.655000	0.94253	GTG			0.557	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042334.2			
FUCA2	2519	broad.mit.edu	37	6	143825112	143825112	+	Silent	SNP	G	G	A	rs377166178		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:143825112G>A	ENST00000002165.6	-	3	745	c.690C>T	c.(688-690)gaC>gaT	p.D230D	RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	230					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GTGCTCCTCCGTCACCATCCG	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		18397	0.0		0.0	False		,,,				2504	0.001				p.D230D													.	FUCA2	28		0			c.C690T							G		0,4406		0,0,2203	84.0	75.0	78.0		690	-11.2	0.0	6		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FUCA2	NM_032020.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		230/468	143825112	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2519	exon3			TCCTCCGTCACCA	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.690C>T	6.37:g.143825112G>A			Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	154	0.03	4	NM_032020	146	0.00	0	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	ENST00000002165.6	37	CCDS5200.1																																																																																					0.463	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042521.2		NM_032020	
SYTL3	94120	broad.mit.edu	37	6	159086520	159086520	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:159086520G>T	ENST00000297239.9	+	4	398	c.204G>T	c.(202-204)caG>caT	p.Q68H	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Missense_Mutation_p.Q68H			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	68	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GCTGCCAGCAGGTGCTGGGGT	0.647																																					p.Q68H													.	SYTL3	49		0			c.G204T												32.0	29.0	30.0					6																	159086520		2203	4299	6502	SO:0001583	missense	94120	exon6			CCAGCAGGTGCTG	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.204G>T	6.37:g.159086520G>T	ENSP00000297239:p.Gln68His		Somatic	169	0	0		WXS	Illumina HiSeq	Phase_I	135	0.02	3	NM_001242384	0		0	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309612	0.23821	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.78003	-1.14;-1.14	5.8	1.89	0.25635	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.631693	0.16760	N	0.200651	T	0.68622	0.3021	M	0.76574	2.34	0.09310	N	0.999997	P;P	0.50710	0.833;0.938	B;P	0.47705	0.352;0.555	T	0.62849	-0.6767	10	0.66056	D	0.02	.	9.9044	0.41366	0.1207:0.4915:0.3878:0.0	.	68;68	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	H	68	ENSP00000353631:Q68H;ENSP00000297239:Q68H	ENSP00000297239:Q68H	Q	+	3	2	SYTL3	159006508	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.447000	0.06828	0.056000	0.16144	-0.311000	0.09066	CAG			0.647	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042876.1			
SLC22A2	6582	broad.mit.edu	37	6	160679540	160679540	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:160679540C>A	ENST00000366953.3	-	1	508	c.250G>T	c.(250-252)Gcc>Tcc	p.A84S	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.A63S	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	84					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CTTGGGGAGGCTTCGCCCGCA	0.677																																					p.A84S													.	SLC22A2	78		0			c.G250T												55.0	60.0	58.0					6																	160679540		2203	4300	6503	SO:0001583	missense	6582	exon1			GGGAGGCTTCGCC	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.250G>T	6.37:g.160679540C>A	ENSP00000355920:p.Ala84Ser		Somatic	116	0.0086206897	1		WXS	Illumina HiSeq	Phase_I	97	0.05	5	NM_003058	0		0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099753	0.08681	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.72282	-0.64;-0.6	5.02	-0.519	0.11939	Major facilitator superfamily domain (1);	0.819068	0.11195	N	0.589470	T	0.31949	0.0813	L	0.47016	1.485	0.09310	N	1	B;B;B	0.31274	0.079;0.057;0.317	B;B;B	0.34180	0.177;0.142;0.124	T	0.24941	-1.0146	10	0.09590	T	0.72	.	2.4803	0.04586	0.125:0.2987:0.371:0.2053	.	84;84;84	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	S	84;63	ENSP00000355920:A84S;ENSP00000355919:A63S	ENSP00000355919:A63S	A	-	1	0	SLC22A2	160599530	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.737000	0.04877	-0.003000	0.14444	0.655000	0.94253	GCC			0.677	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042943.1		NM_003058	
PMS2	5395	broad.mit.edu	37	7	6026590	6026590	+	Silent	SNP	G	G	T	rs376046767		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:6026590G>T	ENST00000265849.7	-	11	1911	c.1806C>A	c.(1804-1806)gcC>gcA	p.A602A	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Silent_p.A496A	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	602					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAACCTGAGAGGCTGACATGT	0.363			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.A602A			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88		0			c.C1806A												99.0	102.0	101.0					7																	6026590		2203	4299	6502	SO:0001819	synonymous_variant	5395	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CTGAGAGGCTGAC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1806C>A	7.37:g.6026590G>T			Somatic	197	0	0		WXS	Illumina HiSeq	Phase_I	221	0.01	3	NM_000535	13	0.00	0	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																					0.363	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207353.3		NM_000535	
KLHL7	55975	broad.mit.edu	37	7	23213659	23213659	+	Silent	SNP	C	C	T	rs147111813	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:23213659C>T	ENST00000339077.5	+	11	1746	c.1503C>T	c.(1501-1503)taC>taT	p.Y501Y	KLHL7_ENST00000322231.7_Silent_p.Y479Y|KLHL7_ENST00000545443.1_Silent_p.Y479Y|KLHL7_ENST00000542558.1_Silent_p.Y276Y|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000409689.1_Silent_p.Y453Y|KLHL7_ENST00000539124.1_Silent_p.Y425Y	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	501					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGAATATTACGATATTAAGT	0.353																																					p.Y501Y													KLHL7_ENST00000339077,NS,carcinoma,0,2	KLHL7	102	2	0			c.C1503T							C	,	1,4405	2.1+/-5.4	0,1,2202	186.0	167.0	173.0		1503,1359	-5.6	0.9	7	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KLHL7	NM_001031710.2,NM_018846.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	501/587,453/539	23213659	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55975	exon11			ATATTACGATATT		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1503C>T	7.37:g.23213659C>T			Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	281	0.02	5	NM_001031710	21	0.00	0	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	CCDS34609.1																																																																																					0.353	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326860.3		NM_018846	
FAM221A	340277	broad.mit.edu	37	7	23731023	23731023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:23731023G>T	ENST00000344962.4	+	4	534	c.445G>T	c.(445-447)Gga>Tga	p.G149*	FAM221A_ENST00000409994.3_Nonsense_Mutation_p.G91*|FAM221A_ENST00000409653.1_Nonsense_Mutation_p.G91*|FAM221A_ENST00000409192.3_Nonsense_Mutation_p.G149*	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	149																	CAAGTGTTCAGGATTCCATAG	0.433																																					p.G149X													.	.			0			c.G445T												143.0	131.0	135.0					7																	23731023		2203	4300	6503	SO:0001587	stop_gained	340277	exon4			TGTTCAGGATTCC		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.445G>T	7.37:g.23731023G>T	ENSP00000342576:p.Gly149*		Somatic	185	0.0054054054	1		WXS	Illumina HiSeq	Phase_I	277	0.01	3	NM_199136	44	0.00	0	Q05CG4|Q4G0Q7|Q6P519	Nonsense_Mutation	SNP	ENST00000344962.4	37	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849426	0.91277	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	.	.	.	5.55	5.55	0.83447	.	0.106872	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-20.8511	19.519	0.95177	0.0:0.0:1.0:0.0	.	.	.	.	X	149;149;91;91	.	ENSP00000342576:G149X	G	+	1	0	C7orf46	23697548	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.174000	0.94824	2.623000	0.88846	0.467000	0.42956	GGA			0.433	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250261.1		NM_199136	
BBS9	27241	broad.mit.edu	37	7	33313525	33313525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:33313525C>T	ENST00000242067.6	+	9	1494	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	BBS9_ENST00000354265.4_Nonsense_Mutation_p.Q325*|BBS9_ENST00000425508.2_Nonsense_Mutation_p.Q280*|BBS9_ENST00000396127.2_Nonsense_Mutation_p.Q325*|BBS9_ENST00000355070.2_Nonsense_Mutation_p.Q325*|BBS9_ENST00000350941.3_Nonsense_Mutation_p.Q325*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	325					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGGGCCACCCAACTTCCCCA	0.348									Bardet-Biedl syndrome																												p.Q325X													.	BBS9	194		0			c.C973T												76.0	72.0	73.0					7																	33313525		2203	4300	6503	SO:0001587	stop_gained	27241	exon9	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	GCCACCCAACTTC		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.973C>T	7.37:g.33313525C>T	ENSP00000242067:p.Gln325*		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	171	0.03	5	NM_014451	9	0.00	0	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	41	9.130390	0.99075	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000537775	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-13.2306	19.5492	0.95311	0.0:1.0:0.0:0.0	.	.	.	.	X	325;325;325;325;325;325;325;280;203	.	ENSP00000242067:Q325X	Q	+	1	0	BBS9	33280050	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	7.078000	0.76821	2.636000	0.89361	0.484000	0.47621	CAA			0.348	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000329064.1			
ELMO1	9844	broad.mit.edu	37	7	37264492	37264492	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:37264492G>T	ENST00000310758.4	-	9	1340	c.693C>A	c.(691-693)caC>caA	p.H231Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.H231Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.H231Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	231					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACCCTTGCAGGTGTGGAATGA	0.512																																					p.H231Q													.	ELMO1	141		0			c.C693A												129.0	115.0	119.0					7																	37264492		2203	4300	6503	SO:0001583	missense	9844	exon9			TTGCAGGTGTGGA	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.693C>A	7.37:g.37264492G>T	ENSP00000312185:p.His231Gln		Somatic	98	0.0102040816	1		WXS	Illumina HiSeq	Phase_I	102	0.03	3	NM_014800	12	0.00	0	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738683	0.69304	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.50813	0.73;0.73;0.73	5.4	-1.42	0.08913	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.69823	2.125	0.80722	D	1	P	0.37573	0.6	P	0.53224	0.721	T	0.53415	-0.8442	10	0.34782	T	0.22	.	9.9691	0.41743	0.6511:0.0:0.3489:0.0	.	231	Q92556	ELMO1_HUMAN	Q	231;135;231;231	ENSP00000312185:H231Q;ENSP00000406952:H231Q;ENSP00000394458:H231Q	ENSP00000312185:H231Q	H	-	3	2	ELMO1	37231017	0.930000	0.31532	0.994000	0.49952	0.977000	0.68977	0.269000	0.18589	-0.120000	0.11809	-0.290000	0.09829	CAC			0.512	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219830.4		NM_130442	
STARD3NL	83930	broad.mit.edu	37	7	38254698	38254698	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:38254698G>T	ENST00000009041.7	+	4	630	c.373G>T	c.(373-375)Gca>Tca	p.A125S	STARD3NL_ENST00000544203.1_Missense_Mutation_p.A118S|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A125S|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A125S	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	125	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CCATTGGTGGGCAATAGCGGT	0.478																																					p.A125S													.	STARD3NL	35		0			c.G373T												116.0	103.0	107.0					7																	38254698		2203	4300	6503	SO:0001583	missense	0	exon4			TGGTGGGCAATAG	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.373G>T	7.37:g.38254698G>T	ENSP00000009041:p.Ala125Ser		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	105	0.04	4	NM_032016	92	0.00	0	A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124886	0.77436	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.94	5.94	0.96194	MENTAL domain (2);	0.094278	0.64402	D	0.000001	T	0.51839	0.1698	L	0.54323	1.7	0.58432	D	0.999999	B;B	0.21225	0.053;0.053	B;B	0.38655	0.278;0.115	T	0.48468	-0.9033	10	0.56958	D	0.05	-8.3648	19.1527	0.93495	0.0:0.0:1.0:0.0	.	125;125	C9JKL2;O95772	.;MENTO_HUMAN	S	125;118;125;125;125;125;125	ENSP00000009041:A125S;ENSP00000439436:A118S;ENSP00000394000:A125S;ENSP00000379334:A125S;ENSP00000411933:A125S;ENSP00000395455:A125S;ENSP00000402028:A125S	ENSP00000009041:A125S	A	+	1	0	STARD3NL	38221223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.466000	0.97665	2.823000	0.97156	0.643000	0.83706	GCA			0.478	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226929.2			
POU6F2	11281	broad.mit.edu	37	7	39500265	39500265	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:39500265G>T	ENST00000403058.1	+	10	1676	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S	POU6F2_ENST00000559001.1_Missense_Mutation_p.A453S|POU6F2_ENST00000518318.2_Missense_Mutation_p.A508S	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	508	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A508S(3)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTGGGACAGGCTCTCAGTGC	0.592																																					p.A508S													POU6F2,NS,carcinoma,0,3	POU6F2	117	3	3	Substitution - Missense(3)	endometrium(2)|kidney(1)	c.G1522T												33.0	29.0	30.0					7																	39500265		2203	4300	6503	SO:0001583	missense	11281	exon10			GGACAGGCTCTCA	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1522G>T	7.37:g.39500265G>T	ENSP00000384004:p.Ala508Ser		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	121	0.07	8	NM_007252	0		0	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698778	0.68501	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.95342	-2.0;-3.68	5.48	5.48	0.80851	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.65320	2	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.97228	0.9882	10	0.87932	D	0	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	508	P78424	PO6F2_HUMAN	S	508	ENSP00000384004:A508S;ENSP00000430514:A508S	ENSP00000384004:A508S	A	+	1	0	POU6F2	39466790	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.773000	0.98989	2.572000	0.86782	0.511000	0.50034	GCT			0.592	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000320146.3		NM_007252	
STYXL1	51657	broad.mit.edu	37	7	75651171	75651171	+	Missense_Mutation	SNP	T	T	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:75651171T>A	ENST00000248600.1	-	4	647	c.305A>T	c.(304-306)aAa>aTa	p.K102I	STYXL1_ENST00000431581.1_Missense_Mutation_p.K102I|STYXL1_ENST00000360591.3_Missense_Mutation_p.K102I|STYXL1_ENST00000451157.1_Missense_Mutation_p.K102I|STYXL1_ENST00000359697.3_Missense_Mutation_p.K102I|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000460184.2_5'UTR	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	102	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						AAACCCACCTTTGCCATCACC	0.428																																					p.K102I													.	STYXL1	35		0			c.A305T												244.0	234.0	237.0					7																	75651171		2203	4300	6503	SO:0001583	missense	51657	exon4			CCACCTTTGCCAT	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.305A>T	7.37:g.75651171T>A	ENSP00000248600:p.Lys102Ile		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	75	0.04	3	NM_016086	72	0.00	0	Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273548	0.23221	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000404050;ENST00000360591;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T	0.46451	1.71;1.71;0.87;1.71;1.71	3.86	-0.365	0.12549	Rhodanese-like (4);	4.879550	0.00751	U	0.001072	T	0.35508	0.0934	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18968	0.014;0.032;0.014	B;B;B	0.15484	0.008;0.01;0.013	T	0.12553	-1.0543	10	0.38643	T	0.18	4.3452	5.5152	0.16902	0.0:0.0969:0.3312:0.5719	.	102;102;102	C9J4H0;Q9Y6J8-2;Q9Y6J8	.;.;STYL1_HUMAN	I	102;102;102;102;102;57;102	ENSP00000248600:K102I;ENSP00000352726:K102I;ENSP00000353798:K102I;ENSP00000392221:K102I;ENSP00000411812:K102I	ENSP00000248600:K102I	K	-	2	0	STYXL1	75489107	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.146000	0.10250	-0.271000	0.09272	0.379000	0.24179	AAA			0.428	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344825.1		NM_016086	
ABCB4	5244	broad.mit.edu	37	7	87079377	87079377	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:87079377G>T	ENST00000265723.4	-	8	851	c.740C>A	c.(739-741)gCt>gAt	p.A247D	ABCB4_ENST00000358400.3_Missense_Mutation_p.A247D|ABCB4_ENST00000359206.3_Missense_Mutation_p.A247D|ABCB4_ENST00000545634.1_Missense_Mutation_p.A247D|ABCB4_ENST00000453593.1_Missense_Mutation_p.A247D	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	247	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TGCATAAGCAGCTAGTTCTTT	0.488																																					p.A247D													.	ABCB4	177		0			c.C740A												84.0	84.0	84.0					7																	87079377		2203	4300	6503	SO:0001583	missense	5244	exon8			TAAGCAGCTAGTT	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.740C>A	7.37:g.87079377G>T	ENSP00000265723:p.Ala247Asp		Somatic	264	0	0		WXS	Illumina HiSeq	Phase_I	231	0.01	3	NM_018850	1	0.00	0	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	g	8.062	0.768261	0.15983	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.75	3.96	0.45880	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.220560	0.45867	D	0.000324	T	0.61677	0.2366	N	0.04203	-0.255	0.09310	N	1	B;P;P	0.41188	0.002;0.696;0.741	B;B;P	0.45712	0.007;0.358;0.491	T	0.54748	-0.8247	10	0.12103	T	0.63	-11.3833	7.2634	0.26216	0.1397:0.0:0.7233:0.137	.	247;247;247	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	D	247	ENSP00000352135:A247D;ENSP00000351172:A247D;ENSP00000265723:A247D;ENSP00000392983:A247D;ENSP00000437465:A247D	ENSP00000265723:A247D	A	-	2	0	ABCB4	86917313	0.199000	0.23386	0.529000	0.27951	0.985000	0.73830	2.742000	0.47434	0.787000	0.33731	0.591000	0.81541	GCT			0.488	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000336083.1		NM_000443	
ADAM22	53616	broad.mit.edu	37	7	87737492	87737492	+	Splice_Site	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:87737492G>T	ENST00000265727.7	+	5	471	c.392G>T	c.(391-393)gGa>gTa	p.G131V	ADAM22_ENST00000398209.3_Splice_Site_p.G131V|ADAM22_ENST00000439864.1_Splice_Site_p.G131V|ADAM22_ENST00000398201.4_Splice_Site_p.G131V|ADAM22_ENST00000315984.7_Splice_Site_p.G131V|ADAM22_ENST00000398204.4_Splice_Site_p.G131V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	131					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTTTTCAGGGAGGAGAGCAC	0.428																																					p.G131V													.	ADAM22	280		0			c.G392T												81.0	77.0	78.0					7																	87737492		1969	4152	6121	SO:0001630	splice_region_variant	53616	exon5			TTCAGGGAGGAGA	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.391-1G>T	7.37:g.87737492G>T			Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	109	0.04	4	NM_021722	0		0	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Splice_Site	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447361	0.84101	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41	5.76	5.76	0.90799	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.998;1.0;1.0	T	0.01484	-1.1343	10	0.59425	D	0.04	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	183;131;131;131;131;131	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	V	131;131;148;131;131;131;131;98	ENSP00000381262:G131V;ENSP00000391334:G131V;ENSP00000413899:G148V;ENSP00000381260:G131V;ENSP00000265727:G131V;ENSP00000315900:G131V;ENSP00000381267:G131V;ENSP00000381261:G98V	ENSP00000265727:G131V	G	+	2	0	ADAM22	87575428	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.758000	0.68776	2.882000	0.98803	0.655000	0.94253	GGA			0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268370.2		NM_021723	Missense_Mutation
PCOLCE	5118	broad.mit.edu	37	7	100205135	100205135	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:100205135C>T	ENST00000223061.5	+	7	1281	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	334	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AACTTCTGTGCCAGCAGCCTT	0.597																																					p.A334V													.	PCOLCE	37		0			c.C1001T												147.0	153.0	151.0					7																	100205135		2203	4300	6503	SO:0001583	missense	5118	exon7			TCTGTGCCAGCAG	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1001C>T	7.37:g.100205135C>T	ENSP00000223061:p.Ala334Val		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	153	0.04	6	NM_002593	129	0.00	0	B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479393	0.44044	.	.	ENSG00000106333	ENST00000223061	T	0.23754	1.89	4.61	3.72	0.42706	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.867399	0.10205	N	0.702856	T	0.26011	0.0634	L	0.43923	1.385	0.36466	D	0.866978	B	0.27117	0.168	B	0.30716	0.119	T	0.12863	-1.0531	10	0.44086	T	0.13	-5.3206	11.5648	0.50798	0.1895:0.8105:0.0:0.0	.	334	Q15113	PCOC1_HUMAN	V	334	ENSP00000223061:A334V	ENSP00000223061:A334V	A	+	2	0	PCOLCE	100043071	0.929000	0.31497	0.824000	0.32777	0.911000	0.54048	2.227000	0.42972	1.130000	0.42092	0.462000	0.41574	GCC			0.597	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345285.1		NM_002593	
SLC12A9	56996	mdanderson.org	37	7	100458783	100458783	+	Silent	SNP	G	G	A	rs376976514		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:100458783G>A	ENST00000354161.3	+	10	1367	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	SLC12A9_ENST00000275729.3_Silent_p.L325L|SLC12A9_ENST00000428758.1_Silent_p.L414L|SLC12A9_ENST00000540482.1_Silent_p.L414L|SLC12A9_ENST00000415287.1_Silent_p.L325L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	414					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGGGAAGCTGAACACACTGG	0.607																																					p.L414L													.	.			0			c.G1242A							G		0,4406		0,0,2203	113.0	98.0	103.0		1242	3.2	1.0	7		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC12A9	NM_020246.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		414/915	100458783	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56996	exon10			GAAGCTGAACACA	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1242G>A	7.37:g.100458783G>A			Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_020246	40	0.00	0	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	CCDS5707.1																																																																																					0.607	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342837.1		NM_020246	
CUX1	1523	broad.mit.edu;mdanderson.org	37	7	101758516	101758516	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:101758516G>T	ENST00000292535.7	+	8	675	c.637G>T	c.(637-639)Gac>Tac	p.D213Y	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.D213Y|CUX1_ENST00000547394.2_Missense_Mutation_p.D208Y|CUX1_ENST00000425244.2_Missense_Mutation_p.D178Y|CUX1_ENST00000556210.1_Missense_Mutation_p.D213Y|CUX1_ENST00000550008.2_Missense_Mutation_p.D213Y|CUX1_ENST00000292538.4_Missense_Mutation_p.D224Y|CUX1_ENST00000393824.3_Missense_Mutation_p.D187Y|CUX1_ENST00000437600.4_Missense_Mutation_p.D224Y|CUX1_ENST00000360264.3_Missense_Mutation_p.D224Y|CUX1_ENST00000549414.2_Missense_Mutation_p.D213Y	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	213					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAATTATTTGACCTGAAAAC	0.363																																					p.D224Y													.	CUX1	253		0			c.G670T												109.0	106.0	107.0					7																	101758516		2203	4300	6503	SO:0001583	missense	1523	exon8			TTATTTGACCTGA	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.637G>T	7.37:g.101758516G>T	ENSP00000292535:p.Asp213Tyr		Somatic	134	0.0149253731	2		WXS	Illumina HiSeq	Phase_I	123	0.04	5	NM_181500	14	0.00	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616296	0.87359	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.80123	0.94;0.94;0.94;1.42;0.94;0.94;-1.34;0.94;0.94;0.94	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.88883	0.6558	L	0.60067	1.865	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.985;0.997;0.996;0.988;0.98;0.988;0.999	D	0.88689	0.3207	10	0.72032	D	0.01	-46.0063	20.2228	0.98330	0.0:0.0:1.0:0.0	.	187;213;178;208;224;224;224	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	Y	224;208;224;178;224;213;213;213;213;213	ENSP00000292538:D224Y;ENSP00000449371:D208Y;ENSP00000353401:D224Y;ENSP00000409745:D178Y;ENSP00000414091:D224Y;ENSP00000292535:D213Y;ENSP00000446630:D213Y;ENSP00000447373:D213Y;ENSP00000450125:D213Y;ENSP00000451558:D213Y	ENSP00000292535:D213Y	D	+	1	0	CUX1	101545236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.318000	0.79029	2.789000	0.95967	0.655000	0.94253	GAC			0.363	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347535.1		NM_001913	
LRRC17	10234	broad.mit.edu	37	7	102579955	102579955	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:102579955G>T	ENST00000339431.4	+	3	1146	c.851G>T	c.(850-852)cGa>cTa	p.R284L	LRRC17_ENST00000249377.4_Missense_Mutation_p.R284L|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000455112.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	284					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AACCAACTTCGACCCAAGGAA	0.363																																					p.R284L													.	LRRC17	45		0			c.G851T												102.0	103.0	102.0					7																	102579955		2203	4300	6503	SO:0001583	missense	10234	exon3			AACTTCGACCCAA	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.851G>T	7.37:g.102579955G>T	ENSP00000344242:p.Arg284Leu		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	152	0.04	6	NM_005824	7	0.00	0	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362557	0.61403	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.57907	3.76;0.37	6.03	5.14	0.70334	.	0.000000	0.47852	D	0.000205	T	0.55465	0.1922	L	0.52364	1.645	0.50039	D	0.999841	P;P	0.47034	0.589;0.889	B;P	0.49922	0.103;0.626	T	0.55623	-0.8112	10	0.54805	T	0.06	-12.2855	11.8093	0.52173	0.1342:0.0:0.8658:0.0	.	284;284	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	L	284	ENSP00000344242:R284L;ENSP00000249377:R284L	ENSP00000249377:R284L	R	+	2	0	LRRC17	102367191	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.176000	0.31957	2.861000	0.98227	0.655000	0.94253	CGA			0.363	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347930.1		NM_005824	
IFRD1	3475	broad.mit.edu	37	7	112096081	112096081	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:112096081G>T	ENST00000403825.3	+	3	485	c.224G>T	c.(223-225)gGa>gTa	p.G75V	IFRD1_ENST00000535603.1_Missense_Mutation_p.G25V|IFRD1_ENST00000429071.1_Missense_Mutation_p.G75V|IFRD1_ENST00000005558.4_Missense_Mutation_p.G75V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	75					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GATGAGGAAGGAACTCAAGAA	0.368																																					p.G75V													IFRD1,NS,carcinoma,+1,1	IFRD1	46	1	0			c.G224T												61.0	63.0	62.0					7																	112096081		2203	4300	6503	SO:0001583	missense	3475	exon4			AGGAAGGAACTCA	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.224G>T	7.37:g.112096081G>T	ENSP00000384477:p.Gly75Val		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	83	0.05	4	NM_001007245	70	0.00	0	B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.149934	0.37923	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.45668	0.89;0.89;0.9	5.11	5.11	0.69529	Interferon-related developmental regulator, N-terminal (1);	0.155149	0.56097	D	0.000030	T	0.34308	0.0893	L	0.27053	0.805	0.54753	D	0.999986	P;B	0.49559	0.925;0.292	P;B	0.45071	0.468;0.41	T	0.05146	-1.0903	10	0.33940	T	0.23	-21.2017	13.6086	0.62063	0.0:0.2827:0.7173:0.0	.	75;75	C9JA65;O00458	.;IFRD1_HUMAN	V	75;25;75;75;25;25;25	ENSP00000005558:G75V;ENSP00000384477:G75V;ENSP00000439188:G25V	ENSP00000005558:G75V	G	+	2	0	IFRD1	111883317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.292000	0.65673	2.532000	0.85374	0.585000	0.79938	GGA			0.368	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338700.1		NM_001550	
CFTR	1080	broad.mit.edu	37	7	117188705	117188705	+	Missense_Mutation	SNP	A	A	T	rs397508180		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:117188705A>T	ENST00000003084.6	+	10	1352	c.1220A>T	c.(1219-1221)gAa>gTa	p.E407V	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	407					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GGATTTGGGGAATTATTTGAG	0.328									Cystic Fibrosis																												p.E407V													.	CFTR	171		0			c.A1220T	GRCh37	CM993855	CFTR	M								18.0	18.0	18.0					7																	117188705		2198	4290	6488	SO:0001583	missense	1080	exon10	Familial Cancer Database	CF	TTGGGGAATTATT	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1220A>T	7.37:g.117188705A>T	ENSP00000003084:p.Glu407Val		Somatic	191	0.0052356021	1		WXS	Illumina HiSeq	Phase_I	206	0.03	6	NM_000492	0		0	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781907	0.49891	.	.	ENSG00000001626	ENST00000003084;ENST00000426809	D;D	0.93189	-3.12;-3.18	4.85	3.7	0.42460	ABC transporter, transmembrane domain, type 1 (1);	0.149774	0.64402	D	0.000018	D	0.92698	0.7679	M	0.81802	2.56	0.80722	D	1	B	0.27882	0.192	B	0.32022	0.139	D	0.90227	0.4276	10	0.56958	D	0.05	-10.5798	10.1866	0.43002	0.9212:0.0:0.0788:0.0	.	407	P13569	CFTR_HUMAN	V	407;377	ENSP00000003084:E407V;ENSP00000389119:E377V	ENSP00000003084:E407V	E	+	2	0	CFTR	116975941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.730000	0.74780	0.822000	0.34565	0.528000	0.53228	GAA			0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059397.3		NM_000492	
CTTNBP2	83992	broad.mit.edu	37	7	117431590	117431590	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:117431590G>T	ENST00000160373.3	-	4	1751	c.1660C>A	c.(1660-1662)Caa>Aaa	p.Q554K	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	554	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAAGGAGTTTGGGAGAGCCCT	0.517																																					p.Q554K													.	CTTNBP2	200		0			c.C1660A												113.0	122.0	119.0					7																	117431590		2203	4300	6503	SO:0001583	missense	83992	exon4			GAGTTTGGGAGAG		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1660C>A	7.37:g.117431590G>T	ENSP00000160373:p.Gln554Lys		Somatic	247	0.008097166	2		WXS	Illumina HiSeq	Phase_I	235	0.02	4	NM_033427	0		0	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311663|4.311663	0.81358|0.81358	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.70399	.|-0.48	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86318|0.86318	0.5904|0.5904	M|M	0.88979|0.88979	2.995|2.995	0.54753|0.54753	D|D	0.999989|0.999989	.|D	.|0.69078	.|0.997	.|D	.|0.63192	.|0.912	D|D	0.87761|0.87761	0.2598|0.2598	5|10	.|0.62326	.|D	.|0.03	-0.755|-0.755	19.9756|19.9756	0.97304|0.97304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|554	.|Q8WZ74	.|CTTB2_HUMAN	Q|K	82|554	.|ENSP00000160373:Q554K	.|ENSP00000160373:Q554K	P|Q	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117218826|117218826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.420000|9.420000	0.97426|0.97426	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	CCA|CAA			0.517	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059201.4		NM_033427	
SND1	27044	mdanderson.org	37	7	127714713	127714713	+	Nonsense_Mutation	SNP	G	G	T	rs148173300		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:127714713G>T	ENST00000354725.3	+	17	2133	c.1939G>T	c.(1939-1941)Gag>Tag	p.E647*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	647	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCTGTCTGCCGAGGAGGCCGC	0.617																																					p.E647X													.	.			0			c.G1939T												51.0	41.0	44.0					7																	127714713		2203	4300	6503	SO:0001587	stop_gained	27044	exon17			TCTGCCGAGGAGG		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1939G>T	7.37:g.127714713G>T	ENSP00000346762:p.Glu647*		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_014390	324	0.00	1	Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	39	7.383089	0.98248	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-25.6657	17.1354	0.86738	0.0:0.0:1.0:0.0	.	.	.	.	X	647;637	.	ENSP00000346762:E647X	E	+	1	0	SND1	127501949	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.281000	0.78621	2.651000	0.90000	0.561000	0.74099	GAG			0.617	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349148.1		NM_014390	
CCDC136	64753	broad.mit.edu	37	7	128446881	128446881	+	Missense_Mutation	SNP	C	C	T	rs564211780	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:128446881C>T	ENST00000297788.4	+	9	1755	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.T410M	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	463						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTCAGGGATACGGTGGCCTCC	0.557													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17558	0.001		0.0	False		,,,				2504	0.0				p.T463M													.	CCDC136	170		0			c.C1388T																																									SO:0001583	missense	64753	exon9			GGGATACGGTGGC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1388C>T	7.37:g.128446881C>T	ENSP00000297788:p.Thr463Met		Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	196	0.02	4	NM_022742	7	0.00	0	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.979|6.979	0.550682|0.550682	0.13374|0.13374	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	.|T;T;T	.|0.30182	.|1.54;1.54;1.54	5.3|5.3	2.79|2.79	0.32731|0.32731	.|.	.|1.005770	.|0.07987	.|N	.|0.986445	T|T	0.10165|0.10165	0.0249|0.0249	N|N	0.00707|0.00707	-1.245|-1.245	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.003;0.0;0.003	.|B;B;B	.|0.06405	.|0.001;0.0;0.002	T|T	0.19192|0.19192	-1.0313|-1.0313	5|10	.|0.40728	.|T	.|0.16	0.099|0.099	6.2018|6.2018	0.20579|0.20579	0.0:0.2:0.0:0.8|0.0:0.2:0.0:0.8	.|.	.|463;410;463	.|Q96JN2-2;C9JE17;Q96JN2	.|.;.;CC136_HUMAN	W|M	340|410;463;463;463;54	.|ENSP00000420509:T410M;ENSP00000297788:T463M;ENSP00000417991:T54M	.|ENSP00000297788:T463M	R|T	+|+	1|2	2|0	CCDC136|CCDC136	128234117|128234117	0.151000|0.151000	0.22747|0.22747	0.001000|0.001000	0.08648|0.08648	0.010000|0.010000	0.07245|0.07245	1.360000|1.360000	0.34125|0.34125	0.841000|0.841000	0.35020|0.35020	-0.459000|-0.459000	0.05422|0.05422	CGG|ACG			0.557	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000350641.1		NM_022742	
EPHB6	2051	mdanderson.org	37	7	142565385	142565385	+	Silent	SNP	G	G	T	rs8177153	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:142565385G>T	ENST00000392957.2	+	12	2557	c.1770G>T	c.(1768-1770)ccG>ccT	p.P590P	EPHB6_ENST00000411471.2_Silent_p.P313P|EPHB6_ENST00000442129.1_Silent_p.P590P	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	590						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCAGCTTCCGGAAAGACTCT	0.637																																					p.P590P													.	.			0			c.G1770T												58.0	55.0	56.0					7																	142565385		2203	4300	6503	SO:0001819	synonymous_variant	2051	exon12			GCTTCCGGAAAGA	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1770G>T	7.37:g.142565385G>T			Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_004445	5	0.00	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																					0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341329.1			
EPHA1	2041	broad.mit.edu	37	7	143094683	143094683	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:143094683C>T	ENST00000275815.3	-	9	1769	c.1683G>A	c.(1681-1683)ttG>ttA	p.L561L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	561					activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TCCCAAGCAGCAAGGCTGCAC	0.612																																					p.L561L													.	EPHA1	193		0			c.G1683A												87.0	84.0	85.0					7																	143094683		2203	4300	6503	SO:0001819	synonymous_variant	2041	exon9			AAGCAGCAAGGCT	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1683G>A	7.37:g.143094683C>T			Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	231	0.01	3	NM_005232	35	0.00	0	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																					0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342154.1			
ZNF862	643641	broad.mit.edu	37	7	149543304	149543304	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:149543304C>T	ENST00000223210.4	+	3	446	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	67	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CATGGCTTGGCAGCGTCCAGG	0.582																																					p.G67G													.	ZNF862	97		0			c.C201T												29.0	32.0	31.0					7																	149543304		2013	4192	6205	SO:0001819	synonymous_variant	643641	exon3			GCTTGGCAGCGTC	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.201C>T	7.37:g.149543304C>T			Somatic	281	0	0		WXS	Illumina HiSeq	Phase_I	240	0.02	4	NM_001099220	0		0	A0AUL8	Silent	SNP	ENST00000223210.4	37	CCDS47741.1																																																																																					0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350165.1		NM_001099220	
ATP6V0E2	155066	hgsc.bcm.edu	37	7	149571176	149571176	+	Missense_Mutation	SNP	C	C	T	rs11538585		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:149571176C>T	ENST00000425642.2	+	1	45	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	ATP6V0E2_ENST00000456496.2_Missense_Mutation_p.L57F|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.L8F|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.L8F|ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.L57F|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000464662.1_Missense_Mutation_p.L8F|ATP6V0E2-AS1_ENST00000488315.1_RNA			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	8					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|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)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTCATTCGCCCTCCCGGTCAT	0.716																																					p.L57F													.	.			0			c.C169T												7.0	10.0	9.0					7																	149571176		1704	3422	5126	SO:0001583	missense	155066	exon1			TTCGCCCTCCCGG	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.22C>T	7.37:g.149571176C>T	ENSP00000396148:p.Leu8Phe		Somatic	98	0	0		WXS	Illumina HiSeq	.	97	0.04	4	NM_001100592	42	0.00	0	A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	ENST00000425642.2	37		.	.	.	.	.	.	.	.	.	.	C	26.2	4.718234	0.89205	.	.	ENSG00000171130	ENST00000421974;ENST00000456496;ENST00000425642;ENST00000479613	.	.	.	5.7	4.8	0.61643	.	.	.	.	.	T	0.68677	0.3027	L	0.50333	1.59	0.46096	D	0.998868	D;D;P	0.89917	1.0;0.978;0.589	D;P;P	0.85130	0.997;0.877;0.58	T	0.70096	-0.4966	8	0.87932	D	0	-7.515	11.1831	0.48640	0.0:0.7628:0.2372:0.0	.	57;8;8	E9PAS2;Q8NHE4-3;Q8NHE4	.;.;VA0E2_HUMAN	F	57;57;8;8	.	ENSP00000411672:L57F	L	+	1	0	ATP6V0E2	149202109	0.970000	0.33590	1.000000	0.80357	0.996000	0.88848	0.649000	0.24843	2.690000	0.91761	0.563000	0.77884	CTC			0.716	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470874.1		NM_145230	
KMT2C	58508	broad.mit.edu	37	7	151873946	151873946	+	Missense_Mutation	SNP	A	A	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:151873946A>T	ENST00000262189.6	-	38	8810	c.8592T>A	c.(8590-8592)gaT>gaA	p.D2864E	KMT2C_ENST00000355193.2_Missense_Mutation_p.D2864E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2864					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTTTTCTCCATCATTTAGGT	0.408																																					p.D2864E													.	MLL3	1564		0			c.T8592A												125.0	121.0	123.0					7																	151873946		2203	4300	6503	SO:0001583	missense	58508	exon38			TTCTCCATCATTT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8592T>A	7.37:g.151873946A>T	ENSP00000262189:p.Asp2864Glu		Somatic	130	0.0076923077	1		WXS	Illumina HiSeq	Phase_I	97	0.03	3	NM_170606	1	0.00	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.815|9.815	1.184261|1.184261	0.21870|0.21870	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.83591|.	-1.71;-1.74|.	5.4|5.4	-7.62|-7.62	0.01294|0.01294	.|.	0.436178|.	0.18721|.	N|.	0.133007|.	T|T	0.15739|0.15739	0.0379|0.0379	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999993|0.999993	B;B;B|.	0.09022|.	0.002;0.001;0.002|.	B;B;B|.	0.09377|.	0.003;0.003;0.004|.	T|T	0.25398|0.25398	-1.0133|-1.0133	10|5	0.06365|.	T|.	0.9|.	.|.	1.9753|1.9753	0.03415|0.03415	0.4597:0.1728:0.2553:0.1121|0.4597:0.1728:0.2553:0.1121	.|.	2864;1925;2864|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	E|R	2864|370	ENSP00000262189:D2864E;ENSP00000347325:D2864E|.	ENSP00000262189:D2864E|.	D|W	-|-	3|1	2|0	MLL3|MLL3	151504879|151504879	0.017000|0.017000	0.18338|0.18338	0.000000|0.000000	0.03702|0.03702	0.871000|0.871000	0.50021|0.50021	0.003000|0.003000	0.13083|0.13083	-0.976000|-0.976000	0.03542|0.03542	0.528000|0.528000	0.53228|0.53228	GAT|TGG			0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3			
RBM33	155435	broad.mit.edu	37	7	155534588	155534588	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:155534588C>T	ENST00000401878.3	+	13	2323	c.2125C>T	c.(2125-2127)Cgt>Tgt	p.R709C		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	709							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R709C(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAGCAATTTGCGTGAATTACC	0.507																																					p.R709C													RBM33_ENST00000401878,colon,carcinoma,0,2	RBM33	157	2	2	Substitution - Missense(2)	large_intestine(2)	c.C2125T												111.0	109.0	110.0					7																	155534588		2203	4300	6503	SO:0001583	missense	155435	exon13			AATTTGCGTGAAT	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2125C>T	7.37:g.155534588C>T	ENSP00000384160:p.Arg709Cys		Somatic	205	0.0048780488	1		WXS	Illumina HiSeq	Phase_I	192	0.03	6	NM_053043	7	0.00	0	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214556	0.58452	.	.	ENSG00000184863	ENST00000401878	T	0.61040	0.14	5.76	4.82	0.62117	.	0.086489	0.51477	D	0.000100	T	0.69975	0.3171	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.917;0.966	T	0.68394	-0.5420	9	.	.	.	.	13.4472	0.61148	0.2744:0.7256:0.0:0.0	.	426;709	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	709	ENSP00000384160:R709C	.	R	+	1	0	RBM33	155227349	1.000000	0.71417	0.811000	0.32455	0.210000	0.24377	2.840000	0.48215	2.720000	0.93068	0.591000	0.81541	CGT			0.507	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317225.3		NM_001008408	
REEP4	80346	broad.mit.edu	37	8	21996273	21996273	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:21996273G>T	ENST00000306306.3	-	7	1055	c.587C>A	c.(586-588)aCc>aAc	p.T196N	REEP4_ENST00000523293.1_Intron|REEP4_ENST00000334530.5_Missense_Mutation_p.P151T	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	196					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CTCATCCTCGGTGTCGCTGTC	0.672																																					p.T196N													.	REEP4	13		0			c.C587A												59.0	69.0	66.0					8																	21996273		2203	4300	6503	SO:0001583	missense	80346	exon7			TCCTCGGTGTCGC	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.587C>A	8.37:g.21996273G>T	ENSP00000303482:p.Thr196Asn		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	101	0.04	4	NM_025232	210	0.00	0	D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	ENST00000306306.3	37	CCDS6024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.200|9.200	1.028205|1.028205	0.19512|0.19512	.|.	.|.	ENSG00000168476|ENSG00000168476	ENST00000334530|ENST00000306306	D|D	0.87809|0.82433	-2.3|-1.61	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.262365	.|0.27105	.|N	.|0.020905	T|T	0.63931|0.63931	0.2553|0.2553	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B|P	0.09022|0.37781	0.002|0.608	B|B	0.04013|0.34590	0.001|0.186	T|T	0.66638|0.66638	-0.5873|-0.5873	9|10	0.20519|0.19590	T|T	0.43|0.45	-19.0446|-19.0446	15.512|15.512	0.75789|0.75789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	151|196	Q9H6H4-2|Q9H6H4	.|REEP4_HUMAN	T|N	151|196	ENSP00000333889:P151T|ENSP00000303482:T196N	ENSP00000333889:P151T|ENSP00000303482:T196N	P|T	-|-	1|2	0|0	REEP4|REEP4	22052218|22052218	0.998000|0.998000	0.40836|0.40836	0.920000|0.920000	0.36463|0.36463	0.184000|0.184000	0.23303|0.23303	2.840000|2.840000	0.48215|0.48215	2.240000|2.240000	0.73641|0.73641	0.655000|0.655000	0.94253|0.94253	CCG|ACC			0.672	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254337.2		NM_025232	
STC1	6781	broad.mit.edu	37	8	23702384	23702384	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:23702384G>A	ENST00000290271.2	-	4	926	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	STC1_ENST00000524323.1_Missense_Mutation_p.R146C	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	215					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R215C(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCATTGGTGCGTCTCCTGTTG	0.552																																					p.R215C													STC1,NS,carcinoma,0,2	STC1	49	2	1	Substitution - Missense(1)	pancreas(1)	c.C643T												179.0	151.0	160.0					8																	23702384		2203	4300	6503	SO:0001583	missense	6781	exon4			TGGTGCGTCTCCT		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.643C>T	8.37:g.23702384G>A	ENSP00000290271:p.Arg215Cys		Somatic	220	0.0045454545	1		WXS	Illumina HiSeq	Phase_I	248	0.01	3	NM_003155	19	0.00	0	B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000292	0.54147	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	6.16	6.16	0.99307	.	0.153128	0.64402	D	0.000012	T	0.62672	0.2447	N	0.24115	0.695	0.58432	D	0.999997	D	0.89917	1.0	D	0.75020	0.985	T	0.60016	-0.7345	9	0.37606	T	0.19	-17.3129	14.2822	0.66221	0.0:0.0:0.8514:0.1486	.	215	P52823	STC1_HUMAN	C	215;146;146	.	ENSP00000290271:R215C	R	-	1	0	STC1	23758329	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.828000	0.55753	2.937000	0.99478	0.650000	0.86243	CGC			0.552	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215143.1			
PPP2R2A	5520	broad.mit.edu	37	8	26221301	26221301	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:26221301G>T	ENST00000380737.3	+	8	1196	c.867G>T	c.(865-867)tcG>tcT	p.S289S	PPP2R2A_ENST00000315985.7_Silent_p.S299S	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	289					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CCTCTATTTCGGATGTAAAAT	0.363																																					p.S299S													PPP2R2A_ENST00000380737,NS,malignant_melanoma,+1,1	PPP2R2A	44	1	0			c.G897T												94.0	100.0	98.0					8																	26221301		2203	4300	6503	SO:0001819	synonymous_variant	5520	exon8			TATTTCGGATGTA	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.867G>T	8.37:g.26221301G>T			Somatic	122	0.0081967213	1		WXS	Illumina HiSeq	Phase_I	181	0.02	4	NM_001177591	136	0.00	0	B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP	ENST00000380737.3	37	CCDS34867.1																																																																																					0.363	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375954.2		NM_002717	
ADRA1A	148	broad.mit.edu	37	8	26721626	26721626	+	Silent	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:26721626A>G	ENST00000519229.1	-	1	867	c.861T>C	c.(859-861)ccT>ccC	p.P287P	ADRA1A_ENST00000380582.3_Silent_p.P287P|ADRA1A_ENST00000380586.1_Silent_p.P287P|ADRA1A_ENST00000276393.4_Silent_p.P287P|ADRA1A_ENST00000380587.1_Silent_p.P287P|ADRA1A_ENST00000354550.4_Silent_p.P287P|ADRA1A_ENST00000358857.5_Silent_p.P287P|ADRA1A_ENST00000380572.3_Silent_p.P287P|ADRA1A_ENST00000380573.3_Silent_p.P287P|ADRA1A_ENST00000380581.2_Silent_p.P287P			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	363					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTAAGAAAAAAGGCAGCCAGC	0.557																																					p.P287P													.	ADRA1A	337		0			c.T861C												44.0	41.0	42.0					8																	26721626		2203	4300	6503	SO:0001819	synonymous_variant	148	exon1			GAAAAAAGGCAGC	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.861T>C	8.37:g.26721626A>G			Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	89	0.03	3	NM_033303	2	0.00	0	Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																						0.557	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000376207.1		NM_033303	
UBXN8	7993	broad.mit.edu	37	8	30608867	30608867	+	RNA	DEL	A	A	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:30608867delA	ENST00000519246.1	+	0	287							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						ctcatctcttaaaaaaaaaGT	0.403																																					.	Colon(169;855 1943 17895 39459 47884)												.	UBXN8	13		0			.									11,3149		3,5,1572	31.0	25.0	27.0			-0.2	0.0	8		27	52,7082		10,32,3525	no	intron	UBXN8	NM_005671.2		13,37,5097	A1A1,A1R,RR		0.7289,0.3481,0.612			30608867	63,10231	1659	3755	5414			7993	.			TCTCTTAAAAAAA	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30608867delA			Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	96	0.07	7	.	0		0	Q7Z6F2	RNA	DEL	ENST00000519246.1	37																																																																																						0.403	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000375957.1		NM_005671	
ANK1	286	broad.mit.edu	37	8	41580653	41580653	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:41580653G>T	ENST00000347528.4	-	9	982	c.899C>A	c.(898-900)gCc>gAc	p.A300D	ANK1_ENST00000379758.2_Missense_Mutation_p.A300D|ANK1_ENST00000265709.8_Missense_Mutation_p.A333D|ANK1_ENST00000289734.7_Missense_Mutation_p.A300D|ANK1_ENST00000396945.1_Missense_Mutation_p.A300D|ANK1_ENST00000396942.1_Missense_Mutation_p.A300D|ANK1_ENST00000352337.4_Missense_Mutation_p.A300D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	300	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTGGTTTTGGCTTGGATTGG	0.502																																					p.A333D													.	ANK1	497		0			c.C998A												135.0	115.0	122.0					8																	41580653		2203	4300	6503	SO:0001583	missense	286	exon9			GTTTTGGCTTGGA	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.899C>A	8.37:g.41580653G>T	ENSP00000339620:p.Ala300Asp		Somatic	163	0.0122699387	2		WXS	Illumina HiSeq	Phase_I	199	0.02	3	NM_001142446	2	0.00	0	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256554	0.95336	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.41	5.41	0.78517	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.984;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.979;1.0;1.0	D	0.83833	0.0253	10	0.59425	D	0.04	.	19.1876	0.93649	0.0:0.0:1.0:0.0	.	333;300;300;300;300	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	D	300;300;300;300;300;300;333;300	ENSP00000339620:A300D;ENSP00000289734:A300D;ENSP00000369082:A300D;ENSP00000380149:A300D;ENSP00000380147:A300D;ENSP00000309131:A300D;ENSP00000265709:A333D	ENSP00000265709:A333D	A	-	2	0	ANK1	41699810	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.537000	0.85549	0.655000	0.94253	GCC			0.502	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317297.1		NM_020475	
HOOK3	84376	broad.mit.edu	37	8	42829324	42829324	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:42829324G>T	ENST00000307602.4	+	13	1508	c.1308G>T	c.(1306-1308)caG>caT	p.Q436H		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	436					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAGAAGGGCAGCTCACAACAC	0.443			T	RET	papillary thyroid																																p.Q436H				Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	HOOK3	71		0			c.G1308T												124.0	121.0	122.0					8																	42829324		2203	4300	6503	SO:0001583	missense	84376	exon13			AGGGCAGCTCACA	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1308G>T	8.37:g.42829324G>T	ENSP00000305699:p.Gln436His		Somatic	240	0	0		WXS	Illumina HiSeq	Phase_I	288	0.01	4	NM_032410	7	0.00	0	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	9.445	1.089027	0.20390	.	.	ENSG00000168172	ENST00000307602	T	0.17691	2.26	5.76	2.99	0.34606	.	0.117514	0.64402	D	0.000010	T	0.08582	0.0213	N	0.19112	0.55	0.58432	D	0.999993	B	0.06786	0.001	B	0.16289	0.015	T	0.25328	-1.0135	10	0.12430	T	0.62	-18.4169	5.6618	0.17672	0.2944:0.1353:0.5704:0.0	.	436	Q86VS8	HOOK3_HUMAN	H	436	ENSP00000305699:Q436H	ENSP00000305699:Q436H	Q	+	3	2	HOOK3	42948481	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.840000	0.27600	0.356000	0.24157	0.655000	0.94253	CAG			0.443	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383172.2		NM_032410	
PRKDC	5591	broad.mit.edu	37	8	48825096	48825096	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:48825096G>T	ENST00000314191.2	-	25	2864	c.2808C>A	c.(2806-2808)agC>agA	p.S936R	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S936R	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	936					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACATAACCATGCTATGTAAAA	0.468								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)												PRKDC,NS,carcinoma,-2,2	PRKDC	394	2	0			.												122.0	124.0	123.0					8																	48825096		1944	4155	6099	SO:0001583	missense	5591	.			AACCATGCTATGT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2808C>A	8.37:g.48825096G>T	ENSP00000313420:p.Ser936Arg		Somatic	140	0.0285714286	4		WXS	Illumina HiSeq	Phase_I	172	0.04	7	.	2	0.00	0	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.408337	0.83340	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64085	-0.08;-0.08	5.94	5.07	0.68467	Armadillo-like helical (1);	0.045615	0.85682	D	0.000000	T	0.76154	0.3948	.	.	.	0.58432	D	0.999995	D;D;D	0.71674	0.996;0.996;0.998	D;P;P	0.63703	0.917;0.878;0.878	T	0.79090	-0.1946	9	0.72032	D	0.01	.	11.3343	0.49494	0.1385:0.0:0.8615:0.0	.	936;936;936	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	R	936	ENSP00000313420:S936R;ENSP00000345182:S936R	ENSP00000313420:S936R	S	-	3	2	PRKDC	48987649	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	2.362000	0.44169	1.523000	0.49018	0.650000	0.86243	AGC			0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48839866	48839866	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:48839866G>T	ENST00000314191.2	-	21	2363	c.2307C>A	c.(2305-2307)ggC>ggA	p.G769G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.G769G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	769					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGCATTCAGGCCTACTTCTG	0.403								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)												PRKDC,NS,carcinoma,-1,2	PRKDC	394	2	0			.												87.0	79.0	82.0					8																	48839866		1870	4100	5970	SO:0001819	synonymous_variant	5591	.			ATTCAGGCCTACT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2307C>A	8.37:g.48839866G>T			Somatic	218	0	0		WXS	Illumina HiSeq	Phase_I	289	0.02	6	.	1	0.00	0	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																						0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001081640	
SDCBP	6386	broad.mit.edu	37	8	59490720	59490720	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:59490720G>T	ENST00000260130.4	+	6	681	c.531G>T	c.(529-531)gtG>gtT	p.V177V	SDCBP_ENST00000422546.2_Silent_p.V176V|SDCBP_ENST00000523483.1_Silent_p.V197V|SDCBP_ENST00000413219.2_Silent_p.V177V|SDCBP_ENST00000520168.1_Silent_p.V118V|SDCBP_ENST00000424270.2_Silent_p.V171V|SDCBP_ENST00000447182.2_Silent_p.V176V|SDCBP_ENST00000447267.2_Silent_p.V123V	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	177	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)	p.V177V(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGCACAAGGTGCTCAAACAGG	0.418																																					p.V177V													SDCBP,NS,carcinoma,0,2	SDCBP	20	2	1	Substitution - coding silent(1)	lung(1)	c.G531T												100.0	88.0	92.0					8																	59490720		2203	4300	6503	SO:0001819	synonymous_variant	6386	exon6			CAAGGTGCTCAAA	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.531G>T	8.37:g.59490720G>T			Somatic	168	0.0178571429	3		WXS	Illumina HiSeq	Phase_I	261	0.03	8	NM_001007067	237	0.00	1	B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Silent	SNP	ENST00000260130.4	37	CCDS6172.1																																																																																					0.418	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000378193.1		NM_005625	
C8orf44	56260	broad.mit.edu	37	8	67592032	67592032	+	Missense_Mutation	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:67592032C>T	ENST00000519561.1	+	3	474	c.323C>T	c.(322-324)gCc>gTc	p.A108V	C8orf44-SGK3_ENST00000519289.1_5'UTR|C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44_ENST00000518860.1_3'UTR|C8orf44_ENST00000390159.3_Missense_Mutation_p.A108V	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	108						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGGTCTTTGGCCATCTTCTGC	0.438																																					p.A108V													.	C8orf44	18		0			c.C323T												89.0	94.0	92.0					8																	67592032		2203	4300	6503	SO:0001583	missense	56260	exon3			CTTTGGCCATCTT	AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.323C>T	8.37:g.67592032C>T	ENSP00000428002:p.Ala108Val		Somatic	140	0.0142857143	2		WXS	Illumina HiSeq	Phase_I	193	0.02	3	NM_019607	6	0.00	0	Q9NUM6	Missense_Mutation	SNP	ENST00000519561.1	37	CCDS6193.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858949	0.51376	.	.	ENSG00000213865	ENST00000519561;ENST00000390159	T;T	0.38240	1.15;1.15	3.35	1.47	0.22746	.	.	.	.	.	T	0.27765	0.0683	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.51945	0.685	T	0.16867	-1.0388	9	0.59425	D	0.04	.	9.6304	0.39776	0.0:0.4798:0.5202:0.0	.	108	Q96CB5	CH044_HUMAN	V	108	ENSP00000428002:A108V;ENSP00000375087:A108V	ENSP00000375087:A108V	A	+	2	0	C8orf44	67754586	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-0.423000	0.07034	0.397000	0.25310	0.563000	0.77884	GCC			0.438	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379242.2		NM_019607	
CSPP1	79848	broad.mit.edu	37	8	68030987	68030987	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:68030987G>T	ENST00000262210.5	+	13	1644	c.1613G>T	c.(1612-1614)gGa>gTa	p.G538V	CSPP1_ENST00000412460.1_Missense_Mutation_p.G244V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	573	Pro-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATGGTTCAGGAATGATGGGC	0.313																																					p.G538V													.	CSPP1	129		0			c.G1613T												66.0	59.0	61.0					8																	68030987		1827	4075	5902	SO:0001583	missense	79848	exon13			GTTCAGGAATGAT	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1613G>T	8.37:g.68030987G>T	ENSP00000262210:p.Gly538Val		Somatic	755	0.0013245033	1		WXS	Illumina HiSeq	Phase_I	1042	0.01	10	NM_024790	12	0.00	0	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037425	0.75617	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.39406	1.11;1.08;1.08	5.07	5.07	0.68467	.	0.105505	0.38837	N	0.001560	T	0.61615	0.2361	L	0.56769	1.78	0.58432	D	0.999994	D;P;D;D	0.89917	1.0;0.942;1.0;1.0	D;P;D;D	0.97110	1.0;0.682;0.999;0.999	T	0.64024	-0.6504	10	0.72032	D	0.01	-18.6772	16.3103	0.82865	0.0:0.0:1.0:0.0	.	244;538;573;573	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	V	538;573;244;244	ENSP00000262210:G538V;ENSP00000415782:G244V;ENSP00000430092:G244V	ENSP00000262210:G538V	G	+	2	0	CSPP1	68193541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.468000	0.45102	2.519000	0.84933	0.650000	0.86243	GGA			0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379254.1		NM_024790	
FSBP	100861412	broad.mit.edu	37	8	95444395	95444395	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:95444395G>T	ENST00000481490.2	-	2	937	c.864C>A	c.(862-864)cgC>cgA	p.R288R	RAD54B_ENST00000297592.5_3'UTR|RAD54B_ENST00000336148.5_Intron	NM_001256141.1	NP_001243070.1	O95073	FSBP_HUMAN	fibrinogen silencer binding protein	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CATGCCGTAAGCGAATTGCTT	0.358																																					p.R288R													.	FSBP	1		0			c.C864A																																									SO:0001819	synonymous_variant	100861412	exon2			CCGTAAGCGAATT		CCDS59106.1	8q22.1	2012-08-13			ENSG00000265817	ENSG00000265817			43653	protein-coding gene	gene with protein product						20531236	Standard	NM_001256141		Approved		uc003ygm.3	O95073	OTTHUMG00000178341	ENST00000481490.2:c.864C>A	8.37:g.95444395G>T			Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	235	0.02	4	NM_001256141	16	0.00	0	Q8N4S5	Silent	SNP	ENST00000481490.2	37	CCDS59106.1																																																																																					0.358	FSBP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000441631.1		NM_001256141	
BAALC	79870	broad.mit.edu	37	8	104153274	104153274	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:104153274G>T	ENST00000297574.6	+	1	288	c.149G>T	c.(148-150)gGc>gTc	p.G50V	C8orf56_ENST00000436771.1_Intron|BAALC_ENST00000306391.6_Missense_Mutation_p.G50V|C8orf56_ENST00000521246.1_Intron|BAALC_ENST00000438105.2_Missense_Mutation_p.G50V|BAALC_ENST00000309982.5_Missense_Mutation_p.G50V|BAALC_ENST00000330955.5_Missense_Mutation_p.G50V			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	50						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GAAGCGGGCGGCCTGCACTCG	0.751																																					p.G50V													.	BAALC	15		0			c.G149T												3.0	4.0	4.0					8																	104153274		1685	3327	5012	SO:0001583	missense	79870	exon1			CGGGCGGCCTGCA	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.149G>T	8.37:g.104153274G>T	ENSP00000297574:p.Gly50Val		Somatic	101	0.0198019802	2		WXS	Illumina HiSeq	Phase_I	140	0.06	8	NM_001024372	0		0	Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37		.	.	.	.	.	.	.	.	.	.	G	19.32	3.804098	0.70682	.	.	ENSG00000164929	ENST00000309982;ENST00000438105;ENST00000297574;ENST00000306391;ENST00000330955	T;T	0.54866	0.86;0.55	4.88	3.94	0.45596	.	0.000000	0.38326	N	0.001733	T	0.44871	0.1314	.	.	.	0.47374	D	0.999401	P	0.40332	0.713	B	0.39562	0.303	T	0.50065	-0.8871	9	0.62326	D	0.03	-6.9953	9.7289	0.40348	0.0:0.1504:0.6942:0.1553	.	50	Q8WXS3-2	.	V	50	ENSP00000312457:G50V;ENSP00000297574:G50V	ENSP00000297574:G50V	G	+	2	0	BAALC	104222450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.046000	0.30354	2.242000	0.73789	0.561000	0.74099	GGC			0.751	BAALC-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000380257.1			
DCAF13	25879	broad.mit.edu	37	8	104438341	104438341	+	Nonsense_Mutation	SNP	G	G	T	rs374721908		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:104438341G>T	ENST00000297579.5	+	4	1169	c.892G>T	c.(892-894)Gag>Tag	p.E298*	DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000519682.1_Nonsense_Mutation_p.E142*|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.E106*	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	146					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTATGGAGACGAGGAAGAGCC	0.323																																					p.E298X													.	DCAF13	66		0			c.G892T												67.0	70.0	69.0					8																	104438341		2203	4300	6503	SO:0001587	stop_gained	25879	exon4			GGAGACGAGGAAG	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.892G>T	8.37:g.104438341G>T	ENSP00000297579:p.Glu298*		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	245	0.02	4	NM_015420	202	0.00	1	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Nonsense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212330	0.79240	.	.	ENSG00000164934	ENST00000297579;ENST00000521971;ENST00000519682	.	.	.	5.75	5.75	0.90469	.	0.206685	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-16.0331	13.1886	0.59697	0.0724:0.0:0.9276:0.0	.	.	.	.	X	298;106;142	.	ENSP00000297579:E298X	E	+	1	0	DCAF13	104507517	1.000000	0.71417	0.963000	0.40424	0.672000	0.39443	5.352000	0.66028	2.716000	0.92895	0.655000	0.94253	GAG			0.323	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380797.2		NM_015420	
NUDCD1	84955	broad.mit.edu	37	8	110308689	110308689	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:110308689G>T	ENST00000239690.4	-	3	757	c.383C>A	c.(382-384)aCc>aAc	p.T128N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.T99N|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATCTGACAAGGTAACCCAGGT	0.428																																					p.T128N													.	NUDCD1	58		0			c.C383A												217.0	198.0	204.0					8																	110308689		2203	4300	6503	SO:0001583	missense	84955	exon3			GACAAGGTAACCC	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.383C>A	8.37:g.110308689G>T	ENSP00000239690:p.Thr128Asn		Somatic	187	0	0		WXS	Illumina HiSeq	Phase_I	226	0.02	4	NM_032869	45	0.00	0		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797107	0.70567	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18174	2.23;2.23	5.84	5.84	0.93424	.	0.052209	0.85682	D	0.000000	T	0.27384	0.0672	L	0.47716	1.5	0.47407	D	0.999417	D;P;D	0.56521	0.976;0.893;0.976	P;B;P	0.49887	0.625;0.293;0.625	T	0.00244	-1.1883	10	0.59425	D	0.04	-0.7667	19.1348	0.93422	0.0:0.0:1.0:0.0	.	41;128;99	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	N	128;99	ENSP00000239690:T128N;ENSP00000410707:T99N	ENSP00000239690:T128N	T	-	2	0	NUDCD1	110377865	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.924000	0.87555	2.779000	0.95612	0.591000	0.81541	ACC			0.428	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380996.1		NM_032869	
PKHD1L1	93035	broad.mit.edu	37	8	110457854	110457854	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:110457854G>T	ENST00000378402.5	+	38	5860	c.5756G>T	c.(5755-5757)aGa>aTa	p.R1919I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1919	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCATTTCTCAGAGGAATTATC	0.348										HNSCC(38;0.096)																											p.R1919I													.	PKHD1L1	522		0			c.G5756T												19.0	18.0	18.0					8																	110457854		1831	4090	5921	SO:0001583	missense	93035	exon38			TTCTCAGAGGAAT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5756G>T	8.37:g.110457854G>T	ENSP00000367655:p.Arg1919Ile		Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	288	0.01	3	NM_177531	0		0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	3.685	-0.064814	0.07273	.	.	ENSG00000205038	ENST00000378402	T	0.77489	-1.1	6.03	-3.53	0.04667	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.612949	0.17623	N	0.167651	T	0.64427	0.2597	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.52064	-0.8625	10	0.38643	T	0.18	.	9.4803	0.38898	0.68:0.1219:0.1981:0.0	.	1919	Q86WI1	PKHL1_HUMAN	I	1919	ENSP00000367655:R1919I	ENSP00000367655:R1919I	R	+	2	0	PKHD1L1	110527030	0.052000	0.20516	0.005000	0.12908	0.016000	0.09150	-0.314000	0.08092	-0.561000	0.06094	-0.140000	0.14226	AGA			0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381017.1		NM_177531	
PTP4A3	11156	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	142437898	142437898	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:142437898C>T	ENST00000521578.1	+	5	1323	c.378C>T	c.(376-378)taC>taT	p.Y126Y	PTP4A3_ENST00000329397.1_Silent_p.Y126Y|PTP4A3_ENST00000349124.1_Intron|PTP4A3_ENST00000520105.1_Intron|PTP4A3_ENST00000524028.1_Silent_p.Y40Y			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	126	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GGATGAAGTACGAGGACGCCA	0.687																																					p.Y126Y													.	PTP4A3	19		0			c.C378T												48.0	37.0	41.0					8																	142437898		2117	4194	6311	SO:0001819	synonymous_variant	11156	exon4			GAAGTACGAGGAC	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.378C>T	8.37:g.142437898C>T			Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	61	0.08	5	NM_032611	142	0.37	53	Q8IVN5|Q99849|Q9BTW5	Silent	SNP	ENST00000521578.1	37	CCDS6383.1																																																																																					0.687	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378977.1		NM_032611	
EEF1D	1936	broad.mit.edu	37	8	144658885	144658885	+	IGR	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:144658885G>T	ENST00000419152.2	-	0	1452				RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000276844.7_Missense_Mutation_p.A271D|NAPRT1_ENST00000435154.3_Missense_Mutation_p.A271D|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.A271D|NAPRT1_ENST00000449291.2_Missense_Mutation_p.A271D	NM_001130055.2	NP_001123527.1	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGCCACAAAGGCTGCCCGCTC	0.687																																					p.A271D													.	NAPRT1	47		0			c.C812A												16.0	19.0	18.0					8																	144658885		2194	4289	6483	SO:0001628	intergenic_variant	93100	exon6			ACAAAGGCTGCCC	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144658885G>T			Somatic	110	0.0090909091	1		WXS	Illumina HiSeq	Phase_I	113	0.03	3	NM_145201	108	0.00	0	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000419152.2	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815966	0.70912	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.74947	-0.67;-0.74;-0.86;-0.89;-0.75	4.4	4.4	0.53042	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.053653	0.64402	D	0.000001	D	0.90964	0.7159	H	0.97415	4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94286	0.7524	10	0.87932	D	0	-15.4707	16.1248	0.81383	0.0:0.0:1.0:0.0	.	271;271;271;271	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	D	271	ENSP00000405670:A271D;ENSP00000401508:A271D;ENSP00000341136:A271D;ENSP00000390949:A271D;ENSP00000276844:A271D	ENSP00000276844:A271D	A	-	2	0	NAPRT1	144730028	1.000000	0.71417	0.758000	0.31321	0.267000	0.26476	6.358000	0.73055	2.250000	0.74265	0.643000	0.83706	GCC			0.687	EEF1D-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_032378	
DCAF10	79269	broad.mit.edu	37	9	37861267	37861267	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:37861267G>T	ENST00000377724.3	+	7	1807	c.1442G>T	c.(1441-1443)aGc>aTc	p.S481I	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_3'UTR|DCAF10_ENST00000242323.7_Missense_Mutation_p.S444I	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	481					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CTTTGCTTCAGCCCCGATGGA	0.483																																					p.S481I													.	DCAF10	31		0			c.G1442T												127.0	114.0	118.0					9																	37861267		2203	4300	6503	SO:0001583	missense	79269	exon7			GCTTCAGCCCCGA	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1442G>T	9.37:g.37861267G>T	ENSP00000366953:p.Ser481Ile		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	110	0.03	3	NM_024345	38	0.00	0	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589837	0.86851	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.01933	4.55;4.55	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.85130	0.975;0.997	T	0.00956	-1.1501	10	0.87932	D	0	.	17.2476	0.87032	0.0:0.0:1.0:0.0	.	444;481	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	I	481;444	ENSP00000366953:S481I;ENSP00000242323:S444I	ENSP00000242323:S444I	S	+	2	0	DCAF10	37851267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.413000	0.97351	2.690000	0.91761	0.655000	0.94253	AGC			0.483	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052485.2		NM_024345	
MURC	347273	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	103340815	103340815	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:103340815C>T	ENST00000307584.5	+	1	455	c.390C>T	c.(388-390)ttC>ttT	p.F130F	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.F130L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AAAACAAATTCCGCGTGGTAA	0.383																																					p.F130F													MURC,caecum,carcinoma,0,1	MURC	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C390T												39.0	40.0	39.0					9																	103340815		2202	4296	6498	SO:0001819	synonymous_variant	347273	exon1			CAAATTCCGCGTG	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.390C>T	9.37:g.103340815C>T			Somatic	210	0.0047619048	1		WXS	Illumina HiSeq	.	234	0.11	25	NM_001018116	0		0	B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	CCDS35083.1																																																																																					0.383	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053419.2		NM_001018116	
RNF20	56254	broad.mit.edu	37	9	104307104	104307104	+	Missense_Mutation	SNP	G	G	T	rs372537878		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:104307104G>T	ENST00000389120.3	+	6	774	c.684G>T	c.(682-684)gaG>gaT	p.E228D		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	228					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCGCACAGGAGAATATGAGGC	0.438																																					p.E228D													RNF20,NS,carcinoma,+2,1	RNF20	110	1	0			c.G684T												126.0	127.0	127.0					9																	104307104		2203	4300	6503	SO:0001583	missense	56254	exon6			ACAGGAGAATATG	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.684G>T	9.37:g.104307104G>T	ENSP00000373772:p.Glu228Asp		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	66	0.05	3	NM_019592	19	0.00	0	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208565	0.58343	.	.	ENSG00000155827	ENST00000389120	T	0.77750	-1.12	5.86	4.03	0.46877	.	0.092939	0.64402	D	0.000001	T	0.72969	0.3527	L	0.58510	1.815	0.48571	D	0.999673	B	0.17852	0.024	B	0.12837	0.008	T	0.68345	-0.5433	10	0.42905	T	0.14	-29.0785	12.2043	0.54342	0.1384:0.0:0.8616:0.0	.	228	Q5VTR2	BRE1A_HUMAN	D	228	ENSP00000373772:E228D	ENSP00000373772:E228D	E	+	3	2	RNF20	103346925	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	0.461000	0.21940	0.940000	0.37473	0.650000	0.86243	GAG			0.438	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356402.1		NM_019592	
BSPRY	54836	broad.mit.edu;mdanderson.org	37	9	116116549	116116549	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:116116549G>T	ENST00000374183.4	+	2	270	c.231G>T	c.(229-231)ctG>ctT	p.L77L	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	77					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GTGAGAGGCTGCAGTTACAGA	0.502																																					p.L77L													.	BSPRY	21		0			c.G231T												126.0	132.0	130.0					9																	116116549		2104	4236	6340	SO:0001819	synonymous_variant	54836	exon2			GAGGCTGCAGTTA	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.231G>T	9.37:g.116116549G>T			Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	119	0.04	5	NM_017688	6	0.00	0	B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Silent	SNP	ENST00000374183.4	37	CCDS43868.1																																																																																					0.502	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055399.1		NM_017688	
CDK5RAP2	55755	broad.mit.edu	37	9	123292347	123292347	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:123292347G>T	ENST00000349780.4	-	8	913	c.734C>A	c.(733-735)tCt>tAt	p.S245Y	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S245Y|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S245Y|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S245Y	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	245					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGCCATCTGAGATTTCTCCTC	0.408																																					p.S245Y													.	CDK5RAP2	157		0			c.C734A												166.0	144.0	152.0					9																	123292347		2203	4300	6503	SO:0001583	missense	55755	exon8			ATCTGAGATTTCT	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.734C>A	9.37:g.123292347G>T	ENSP00000343818:p.Ser245Tyr		Somatic	153	0.0065359477	1		WXS	Illumina HiSeq	Phase_I	171	0.04	6	NM_018249	5	0.00	0	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095897	0.76870	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.04049	3.85;3.72;3.81;3.72	5.3	5.3	0.74995	.	0.239741	0.29653	N	0.011546	T	0.18923	0.0454	L	0.60455	1.87	0.43183	D	0.995	D;D;D;D	0.89917	1.0;1.0;0.98;1.0	D;D;P;D	0.91635	0.999;0.999;0.782;0.997	T	0.00128	-1.2018	10	0.54805	T	0.06	.	16.7283	0.85429	0.0:0.0:1.0:0.0	.	46;245;245;245	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	Y	245;245;245;245;247	ENSP00000354065:S245Y;ENSP00000352258:S245Y;ENSP00000343818:S245Y;ENSP00000353317:S245Y	ENSP00000341695:S247Y	S	-	2	0	CDK5RAP2	122332168	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.166000	0.58203	2.471000	0.83476	0.563000	0.77884	TCT			0.408	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000055535.1		NM_018249	
C9orf117	286207	broad.mit.edu	37	9	130471761	130471761	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:130471761G>T	ENST00000373295.2	+	2	262	c.222G>T	c.(220-222)gaG>gaT	p.E74D	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	74										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGAGTTTGAGCAGCTGGCCA	0.592																																					p.E74D													.	C9orf117	21		0			c.G222T												51.0	53.0	52.0					9																	130471761		2101	4243	6344	SO:0001583	missense	286207	exon2			GTTTGAGCAGCTG	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.222G>T	9.37:g.130471761G>T	ENSP00000362392:p.Glu74Asp		Somatic	177	0.0056497175	1		WXS	Illumina HiSeq	Phase_I	166	0.03	5	NM_001012502	3	0.00	0	A5D8T9	Missense_Mutation	SNP	ENST00000373295.2	37	CCDS43878.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559422	0.27827	.	.	ENSG00000160401	ENST00000373295	T	0.43688	0.94	5.12	-2.64	0.06114	.	0.334755	0.35615	N	0.003085	T	0.28333	0.0700	L	0.55834	1.745	0.80722	D	1	B	0.33379	0.41	B	0.29524	0.103	T	0.02398	-1.1165	10	0.33940	T	0.23	-16.3661	6.8713	0.24123	0.2328:0.3567:0.4105:0.0	.	74	Q5JU67	CI117_HUMAN	D	74	ENSP00000362392:E74D	ENSP00000362392:E74D	E	+	3	2	C9orf117	129511582	0.998000	0.40836	0.870000	0.34147	0.673000	0.39480	0.259000	0.18405	-0.502000	0.06596	-0.416000	0.06073	GAG			0.592	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054215.2		NM_001012502	
NOTCH1	4851	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	9	139399283	139399283	+	Nonsense_Mutation	SNP	G	G	T	rs375196212		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:139399283G>T	ENST00000277541.6	-	26	4935	c.4860C>A	c.(4858-4860)taC>taA	p.Y1620*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1620					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)	p.D1610_R1634>(2)|p.A1611_A1636>A(1)|p.D1610_R1634del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGCGGCCGTAGTAGGGGA	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																											p.Y1620X				Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	.	.			4	Complex - deletion inframe(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(4)	c.C4860A												13.0	17.0	16.0					9																	139399283		2096	4204	6300	SO:0001587	stop_gained	4851	exon26			GCGGCCGTAGTAG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4860C>A	9.37:g.139399283G>T	ENSP00000277541:p.Tyr1620*		Somatic	56	0	0		WXS	Illumina HiSeq	.	71	0.06	4	NM_017617	13	0.00	0	Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	45	11.389522	0.99555	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.4	-1.59	0.08453	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.939	0.47262	0.5972:0.0:0.4028:0.0	.	.	.	.	X	1620	.	ENSP00000277541:Y1620X	Y	-	3	2	NOTCH1	138519104	0.933000	0.31639	0.996000	0.52242	0.754000	0.42855	0.081000	0.14823	-0.197000	0.10350	-0.234000	0.12200	TAC			0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055087.1		NM_017617	
TUBB4B	10383	broad.mit.edu	37	9	140137426	140137426	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:140137426G>T	ENST00000340384.4	+	4	904	c.756G>T	c.(754-756)aaG>aaT	p.K252N		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	252					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.K252N(1)								Albendazole(DB00518)|Mebendazole(DB00643)	ACCTGCGGAAGCTGGCTGTGA	0.647																																					p.K252N													TUBB2C,bladder,carcinoma,0,1	.		1	1	Substitution - Missense(1)	urinary_tract(1)	c.G756T												32.0	33.0	33.0					9																	140137426		2202	4297	6499	SO:0001583	missense	10383	exon4			GCGGAAGCTGGCT	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.756G>T	9.37:g.140137426G>T	ENSP00000341289:p.Lys252Asn		Somatic	70	0.0142857143	1		WXS	Illumina HiSeq	Phase_I	57	0.11	6	NM_006088	1870	0.05	86	A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861741	0.32884	.	.	ENSG00000188229	ENST00000340384	D	0.84730	-1.89	5.57	2.69	0.31865	.	0.000000	0.85682	D	0.000000	D	0.89001	0.6591	H	0.95950	3.745	0.49130	D	0.999756	B	0.25272	0.122	B	0.34652	0.187	D	0.84579	0.0660	10	0.87932	D	0	.	4.6185	0.12438	0.2435:0.0:0.6025:0.154	.	252	P68371	TBB4B_HUMAN	N	252	ENSP00000341289:K252N	ENSP00000341289:K252N	K	+	3	2	TUBB2C	139257247	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	0.815000	0.27253	0.285000	0.22329	0.655000	0.94253	AAG			0.647	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254715.1		NM_006088	
TUBBP5	643224	broad.mit.edu	37	9	141069468	141069468	+	RNA	SNP	C	C	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:141069468C>G	ENST00000503395.1	+	0	1023									tubulin, beta pseudogene 5																		TCGCGCTTCTCCTGCCGCCCT	0.677																																					.													.	.			0			.																																											0	.			GCTTCTCCTGCCG	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069468C>G			Somatic	48	0.0208333333	1		WXS	Illumina HiSeq	Phase_I	39	0.13	5	.	0		0		RNA	SNP	ENST00000503395.1	37																																																																																						0.677	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000373087.1		NR_027156	
FRMPD4	9758	broad.mit.edu	37	X	12736057	12736057	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:12736057G>A	ENST00000380682.1	+	16	3618	c.3112G>A	c.(3112-3114)Gca>Aca	p.A1038T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1038					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAGGGGAAGGCACCCCCTAA	0.512																																					p.A1038T													.	FRMPD4	214		0			c.G3112A												98.0	81.0	87.0					X																	12736057		2203	4300	6503	SO:0001583	missense	9758	exon16			GGGAAGGCACCCC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3112G>A	X.37:g.12736057G>A	ENSP00000370057:p.Ala1038Thr		Somatic	131	0.0152671756	2		WXS	Illumina HiSeq	Phase_I	259	0.03	7	NM_014728	2	0.00	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.464090	0.01053	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05717	3.4	5.36	0.651	0.17817	.	1.212630	0.05473	N	0.553496	T	0.03608	0.0103	N	0.13043	0.29	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45175	-0.9279	10	0.10636	T	0.68	0.1566	4.2038	0.10480	0.3108:0.0:0.4186:0.2706	.	1030;1038	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	1038;1029;1027	ENSP00000370057:A1038T	ENSP00000304583:A1027T	A	+	1	0	FRMPD4	12645978	0.078000	0.21339	0.091000	0.20842	0.198000	0.23893	0.284000	0.18864	0.054000	0.16065	-0.281000	0.10026	GCA			0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055771.1		XM_045712	
GEMIN8	54960	broad.mit.edu	37	X	14027165	14027165	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:14027165G>T	ENST00000380523.4	-	5	914	c.596C>A	c.(595-597)gCc>gAc	p.A199D	GEMIN8_ENST00000398355.3_Missense_Mutation_p.A199D	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	199					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTTCATCTCGGCCTGGCGCCG	0.622																																					p.A199D													.	GEMIN8	19		0			c.C596A												79.0	73.0	75.0					X																	14027165		2203	4300	6503	SO:0001583	missense	54960	exon5			ATCTCGGCCTGGC	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.596C>A	X.37:g.14027165G>T	ENSP00000369895:p.Ala199Asp		Somatic	163	0	0		WXS	Illumina HiSeq	Phase_I	323	0.01	3	NM_017856	125	0.00	0	C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.990692	0.74589	.	.	ENSG00000046647	ENST00000380523;ENST00000398355	T;T	0.55052	0.54;0.54	5.42	4.36	0.52297	.	0.048902	0.85682	D	0.000000	T	0.67154	0.2863	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.70208	-0.4935	10	0.72032	D	0.01	.	13.1303	0.59377	0.0947:0.0:0.9053:0.0	.	199	Q9NWZ8	GEMI8_HUMAN	D	199	ENSP00000369895:A199D;ENSP00000381398:A199D	ENSP00000369895:A199D	A	-	2	0	GEMIN8	13937086	0.998000	0.40836	0.989000	0.46669	0.672000	0.39443	3.198000	0.51035	2.291000	0.77112	0.529000	0.55759	GCC			0.622	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055815.1		NM_017856	
CA5BP1	340591	broad.mit.edu	37	X	15711088	15711088	+	RNA	DEL	G	G	-			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:15711088delG	ENST00000380334.2	+	0	228							Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB pseudogene 1							mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)										TGTTTCAGCTGCACTTAGTGC	0.388																																					.													.	.			0			.																																											0	.			TCAGCTGCACTTA	BC021816		Xp22.2	2012-11-02	2011-02-07	2011-02-07	ENSG00000186312	ENSG00000186312			29544	pseudogene	pseudogene	"""similar to carbonic anhydrase VB, mitochondrial precursor"", ""carbonic dehydratase"""		"""carbonic anhydrase VB-like"", ""carbonic anhydrase VB pseudogene"""	CA5BL, CA5BP		12477932	Standard	NR_026551		Approved	PRO2325	uc011mir.1	Q8WTZ4	OTTHUMG00000021182		X.37:g.15711088delG			Somatic	698	0	0		WXS	Illumina HiSeq	Phase_I	1243	0.01	10	.	30	0.00	0	A6NEZ4	RNA	DEL	ENST00000380334.2	37																																																																																						0.388	CA5BP1-005	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000055884.3		NR_026551	
REPS2	9185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	17047745	17047745	+	Splice_Site	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:17047745G>A	ENST00000357277.3	+	5	941	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	REPS2_ENST00000380064.4_Splice_Site_p.R117Q|REPS2_ENST00000303843.7_Splice_Site_p.R256Q	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	257					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCCCTTATCCGGGTAAGTGAT	0.547																																					p.R257Q													.	.			0			c.G770A												56.0	49.0	52.0					X																	17047745		2203	4300	6503	SO:0001630	splice_region_variant	9185	exon5			TTATCCGGGTAAG	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.771+1G>A	X.37:g.17047745G>A			Somatic	98	0	0		WXS	Illumina HiSeq	.	174	0.10	18	NM_004726	5	0.00	0	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529711	0.64860	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.31247	1.53;1.51;1.5	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000040	T	0.19406	0.0466	L	0.32530	0.975	0.51767	D	0.999935	B;P;B	0.34780	0.343;0.468;0.343	B;B;B	0.26614	0.035;0.071;0.042	T	0.05321	-1.0892	10	0.02654	T	1	-13.1773	16.1005	0.81167	0.0:0.0:1.0:0.0	.	117;256;257	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	Q	257;257;256;117	ENSP00000349824:R257Q;ENSP00000306033:R256Q;ENSP00000369404:R117Q	ENSP00000306033:R256Q	R	+	2	0	REPS2	16957666	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	2.801000	0.47908	2.268000	0.75426	0.544000	0.68410	CGG			0.547	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000316778.1		NM_004726	Missense_Mutation
NHS	4810	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	17750309	17750309	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:17750309G>A	ENST00000380060.3	+	8	4956	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	NHS_ENST00000398097.3_Missense_Mutation_p.D1384N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1561					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCAGAGCACCGATGATGCCCA	0.562																																					p.D1540N													.	.			0			c.G4618A												86.0	79.0	81.0					X																	17750309		2203	4300	6503	SO:0001583	missense	4810	exon8			AGCACCGATGATG		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4618G>A	X.37:g.17750309G>A	ENSP00000369400:p.Asp1540Asn		Somatic	248	0	0		WXS	Illumina HiSeq	.	420	0.40	169	NM_198270	11	0.18	2	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251357	0.59212	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.45276	0.9;0.91	5.69	4.83	0.62350	.	0.488362	0.23724	N	0.045192	T	0.29588	0.0738	L	0.43152	1.355	0.46749	D	0.999188	P;B;B;P	0.40681	0.519;0.229;0.229;0.727	B;B;B;B	0.24269	0.052;0.052;0.052;0.049	T	0.06285	-1.0835	10	0.29301	T	0.29	-2.2614	14.3458	0.66662	0.0:0.1917:0.8083:0.0	.	1561;1382;1384;1540	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	N	1540;1384;1382	ENSP00000369400:D1540N;ENSP00000381170:D1384N	ENSP00000369397:D1382N	D	+	1	0	NHS	17660230	1.000000	0.71417	0.521000	0.27850	0.819000	0.46315	6.833000	0.75334	1.293000	0.44690	0.600000	0.82982	GAT			0.562	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059120.1		NM_198270	
KLHL15	80311	broad.mit.edu	37	X	24024352	24024352	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:24024352C>A	ENST00000328046.8	-	3	714	c.459G>T	c.(457-459)aaG>aaT	p.K153N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	153	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AGGTGTCTAACTTCTCCCTGA	0.433																																					p.K153N													.	KLHL15	50		0			c.G459T												129.0	90.0	103.0					X																	24024352		2203	4300	6503	SO:0001583	missense	80311	exon3			GTCTAACTTCTCC	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.459G>T	X.37:g.24024352C>A	ENSP00000332791:p.Lys153Asn		Somatic	85	0.0117647059	1		WXS	Illumina HiSeq	Phase_I	193	0.02	4	NM_030624	4	0.00	0	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528611	0.27299	.	.	ENSG00000174010	ENST00000328046	T	0.69561	-0.41	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.044953	0.85682	D	0.000000	T	0.50803	0.1637	N	0.25890	0.77	0.49130	D	0.999759	B	0.27286	0.174	B	0.26202	0.067	T	0.48864	-0.8997	10	0.30078	T	0.28	.	9.3841	0.38331	0.0:0.8573:0.0:0.1427	.	153	Q96M94	KLH15_HUMAN	N	153	ENSP00000332791:K153N	ENSP00000332791:K153N	K	-	3	2	KLHL15	23934273	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	3.119000	0.50422	2.301000	0.77427	0.544000	0.68410	AAG			0.433	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056078.1		XM_040383	
ARX	170302	broad.mit.edu	37	X	25033725	25033725	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:25033725G>T	ENST00000379044.4	-	1	340	c.130C>A	c.(130-132)Ctg>Atg	p.L44M		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	44					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						GCGGCTCCCAGCAACCGCATT	0.617																																					p.L44M													.	ARX	19		0			c.C130A												33.0	29.0	31.0					X																	25033725		2201	4300	6501	SO:0001583	missense	170302	exon1			CTCCCAGCAACCG	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.130C>A	X.37:g.25033725G>T	ENSP00000368332:p.Leu44Met		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	204	0.02	4	NM_139058	1	0.00	0		Missense_Mutation	SNP	ENST00000379044.4	37	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688357	0.48097	.	.	ENSG00000004848	ENST00000379044	D	0.91237	-2.81	5.2	4.34	0.51931	.	0.218004	0.29396	U	0.012261	D	0.91123	0.7205	L	0.53249	1.67	0.30726	N	0.747701	D	0.63880	0.993	P	0.55161	0.77	D	0.89148	0.3521	10	0.87932	D	0	.	9.1764	0.37114	0.0834:0.1432:0.7734:0.0	.	44	Q96QS3	ARX_HUMAN	M	44	ENSP00000368332:L44M	ENSP00000368332:L44M	L	-	1	2	ARX	24943646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.208000	0.42797	0.960000	0.38005	0.600000	0.82982	CTG			0.617	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056109.1			
MAGEB3	4114	broad.mit.edu	37	X	30254694	30254694	+	Missense_Mutation	SNP	C	C	T	rs145982241	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:30254694C>T	ENST00000361644.2	+	5	1390	c.653C>T	c.(652-654)gCc>gTc	p.A218V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	218	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGCAACTGTGCCACTGAGGAG	0.488																																					p.A218V													.	MAGEB3	54		0			c.C653T							C	VAL/ALA	1,3832		0,1,1630,571	43.0	39.0	40.0		653	3.4	0.0	X	dbSNP_134	40	3,6725		0,3,2425,1872	yes	missense	MAGEB3	NM_002365.4	64	0,4,4055,2443	TT,TC,CC,C		0.0446,0.0261,0.0379	possibly-damaging	218/347	30254694	4,10557	2202	4300	6502	SO:0001583	missense	4114	exon5			ACTGTGCCACTGA	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.653C>T	X.37:g.30254694C>T	ENSP00000355198:p.Ala218Val		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	182	0.03	5	NM_002365	0		0	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814862	0.50527	2.61E-4	4.46E-4	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04654	3.58;3.58	4.3	3.44	0.39384	.	0.342347	0.26719	U	0.022849	T	0.12305	0.0299	L	0.55481	1.735	0.09310	N	1	D	0.55172	0.97	D	0.64237	0.923	T	0.03212	-1.1060	10	0.54805	T	0.06	.	6.8623	0.24074	0.0:0.8747:0.0:0.1253	.	218	O15480	MAGB3_HUMAN	V	218	ENSP00000368271:A218V;ENSP00000355198:A218V	ENSP00000355198:A218V	A	+	2	0	MAGEB3	30164615	0.205000	0.23458	0.021000	0.16686	0.761000	0.43186	1.097000	0.30988	1.145000	0.42336	0.600000	0.82982	GCC			0.488	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056158.2		NM_002365	
DMD	1756	broad.mit.edu	37	X	31196891	31196891	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:31196891G>T	ENST00000357033.4	-	70	10324	c.10118C>A	c.(10117-10119)gCc>gAc	p.A3373D	DMD_ENST00000378707.3_Missense_Mutation_p.A913D|DMD_ENST00000361471.4_Missense_Mutation_p.A305D|DMD_ENST00000359836.1_Missense_Mutation_p.A913D|DMD_ENST00000378723.3_Missense_Mutation_p.A305D|DMD_ENST00000378680.2_Missense_Mutation_p.A305D|DMD_ENST00000378677.2_Missense_Mutation_p.A3369D|DMD_ENST00000343523.2_Missense_Mutation_p.A913D|DMD_ENST00000541735.1_Missense_Mutation_p.A913D|DMD_ENST00000474231.1_Missense_Mutation_p.A913D|DMD_ENST00000378702.4_Missense_Mutation_p.A305D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3373	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAGTACCTTGGCAAAGTCTCG	0.438																																					p.A3373D													.	DMD	2127		0			c.C10118A												131.0	112.0	118.0					X																	31196891		2202	4299	6501	SO:0001583	missense	1756	exon70			ACCTTGGCAAAGT	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10118C>A	X.37:g.31196891G>T	ENSP00000354923:p.Ala3373Asp		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	165	0.02	4	NM_004006	10	0.00	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480113|4.480113	0.84747|0.84747	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705|ENST00000465285	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91577|.	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87|.	5.45|5.45	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.36815|.	U|.	0.002399|.	T|.	0.75436|.	0.3849|.	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D;D;D;D;D;D;D;D;D;D;P;P;P;P|.	0.89917|.	0.232;0.988;0.999;0.966;1.0;1.0;0.98;0.964;0.984;1.0;1.0;0.997;0.741;0.923;0.602;0.808|.	B;P;D;P;D;D;D;P;P;D;D;D;B;P;B;B|.	0.91635|.	0.048;0.824;0.97;0.518;0.975;0.975;0.937;0.737;0.737;0.998;0.999;0.921;0.426;0.58;0.258;0.348|.	T|.	0.76666|.	-0.2875|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.4037|15.4037	0.74861|0.74861	0.0:0.1348:0.8652:0.0|0.0:0.1348:0.8652:0.0	.|.	305;3365;3373;3369;2032;2029;913;913;913;913;913;3250;305;305;305;305|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	D|X	3365;2032;2029;305;1069;3369;3373;913;913;3373;3250;913;913;305;913;305;305;163|1101	ENSP00000367997:A305D;ENSP00000350765:A1069D;ENSP00000367948:A3369D;ENSP00000354923:A3373D;ENSP00000352894:A913D;ENSP00000340057:A913D;ENSP00000367979:A913D;ENSP00000444119:A913D;ENSP00000367974:A305D;ENSP00000417123:A913D;ENSP00000354464:A305D;ENSP00000367951:A305D;ENSP00000367977:A163D|.	ENSP00000340057:A913D|.	A|C	-|-	2|3	0|2	DMD|DMD	31106812|31106812	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.176000|9.176000	0.94839|0.94839	2.527000|2.527000	0.85204|0.85204	0.600000|0.600000	0.82982|0.82982	GCC|TGC			0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056182.2		NM_004006	
FAM47C	442444	broad.mit.edu	37	X	37028069	37028069	+	Missense_Mutation	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:37028069T>C	ENST00000358047.3	+	1	1638	c.1586T>C	c.(1585-1587)aTt>aCt	p.I529T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	529										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCCCAAGATTCTGGTGTCC	0.612																																					p.I529T													.	FAM47C	267		0			c.T1586C												84.0	83.0	84.0					X																	37028069		2202	4300	6502	SO:0001583	missense	442444	exon1			CCAAGATTCTGGT	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1586T>C	X.37:g.37028069T>C	ENSP00000367913:p.Ile529Thr		Somatic	63	0.0158730159	1		WXS	Illumina HiSeq	Phase_I	114	0.05	6	NM_001013736	0		0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.715619	0.00005	.	.	ENSG00000198173	ENST00000358047	T	0.09445	2.98	0.957	-1.91	0.07641	.	.	.	.	.	T	0.01627	0.0052	N	0.00159	-1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24083	-1.0170	9	0.08599	T	0.76	.	3.0862	0.06278	0.1957:0.3646:0.0:0.4397	.	529	Q5HY64	FA47C_HUMAN	T	529	ENSP00000367913:I529T	ENSP00000367913:I529T	I	+	2	0	FAM47C	36937990	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.039000	0.13884	-2.664000	0.00417	-2.457000	0.00206	ATT			0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060508.1		NM_001013736	
ZNF41	7592	broad.mit.edu	37	X	47315340	47315340	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:47315340G>A	ENST00000377065.4	-	4	914	c.275C>T	c.(274-276)gCc>gTc	p.A92V	ZNF41_ENST00000397050.2_Missense_Mutation_p.A102V|ZNF41_ENST00000313116.7_Missense_Mutation_p.A92V|ZNF41_ENST00000465311.1_5'UTR	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	134	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)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTGATGTGGGGCTTCCCCCTC	0.522																																					p.A92V													.	ZNF41	71		0			c.C275T												105.0	85.0	92.0					X																	47315340		2203	4300	6503	SO:0001583	missense	7592	exon4			TGTGGGGCTTCCC	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.275C>T	X.37:g.47315340G>A	ENSP00000366265:p.Ala92Val		Somatic	115	0.0086956522	1		WXS	Illumina HiSeq	Phase_I	233	0.02	4	NM_007130	1	0.00	0	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	5.554	0.287032	0.10513	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	2.3	0.472	0.16758	Krueppel-associated box (1);	1.522650	0.04722	N	0.419555	T	0.23210	0.0561	N	0.03115	-0.41	0.19775	N	0.999953	B;B;B;B;B	0.14012	0.009;0.009;0.004;0.009;0.005	B;B;B;B;B	0.21708	0.022;0.022;0.002;0.036;0.016	T	0.20605	-1.0270	10	0.11485	T	0.65	.	5.9798	0.19401	0.3115:0.0:0.6885:0.0	.	92;94;102;126;134	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	V	92;92;102;102	ENSP00000315173:A92V;ENSP00000366265:A92V;ENSP00000380243:A102V;ENSP00000390385:A102V	ENSP00000315173:A92V	A	-	2	0	ZNF41	47200284	0.000000	0.05858	0.282000	0.24776	0.574000	0.36063	-0.240000	0.08952	0.024000	0.15214	0.468000	0.43344	GCC			0.522	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056429.1		NM_153380	
KDM5C	8242	broad.mit.edu	37	X	53227713	53227713	+	Silent	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:53227713G>A	ENST00000375401.3	-	17	3007	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	KDM5C_ENST00000452825.3_Silent_p.C758C|KDM5C_ENST00000404049.3_Silent_p.C824C|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375383.3_Silent_p.C784C|KDM5C_ENST00000375379.3_Silent_p.C825C	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	825					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)			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						CTCGGGACACGCAAGCCTCTG	0.567			"""N, F, S"""		clear cell renal carcinoma																																p.C825C				Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	KDM5C	385		0			c.C2475T												32.0	27.0	29.0					X																	53227713		2203	4300	6503	SO:0001819	synonymous_variant	8242	exon17			GGACACGCAAGCC	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.2475C>T	X.37:g.53227713G>A			Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	356	0.02	6	NM_004187	81	0.00	0	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	CCDS14351.1																																																																																					0.567	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000056737.2		NM_004187	
HUWE1	10075	broad.mit.edu	37	X	53572039	53572039	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:53572039G>T	ENST00000342160.3	-	70	11456	c.10999C>A	c.(10999-11001)Cct>Act	p.P3667T	HUWE1_ENST00000262854.6_Missense_Mutation_p.P3667T|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3667					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTCCTCAGGCAGGCCATCA	0.602																																					p.P3667T													.	HUWE1	724		0			c.C10999A												41.0	34.0	36.0					X																	53572039		2203	4300	6503	SO:0001583	missense	10075	exon71			CCTCAGGCAGGCC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10999C>A	X.37:g.53572039G>T	ENSP00000340648:p.Pro3667Thr		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	175	0.02	3	NM_031407	158	0.00	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.52|12.52	1.962858|1.962858	0.34659|0.34659	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.37058	.|1.22;1.22	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32585|0.32585	0.0834|0.0834	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P	.|0.44816	.|0.759;0.844	.|B;P	.|0.45474	.|0.215;0.482	T|T	0.03384|0.03384	-1.1042|-1.1042	5|10	.|0.28530	.|T	.|0.3	.|.	17.3684|17.3684	0.87369|0.87369	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3667;3651	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	D|T	2700;504|3667	.|ENSP00000340648:P3667T;ENSP00000262854:P3667T	.|ENSP00000262854:P3667T	A|P	-|-	2|1	0|0	HUWE1|HUWE1	53588764|53588764	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.877000|0.877000	0.50540|0.50540	8.658000|8.658000	0.91110|0.91110	2.369000|2.369000	0.80426|0.80426	0.591000|0.591000	0.81541|0.81541	GCC|CCT			0.602	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056766.1		XM_497119	
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	54285766	54285766	+	Silent	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:54285766T>C	ENST00000375159.2	-	10	2042	c.2043A>G	c.(2041-2043)gtA>gtG	p.V681V	WNK3_ENST00000375169.3_Silent_p.V681V|WNK3_ENST00000354646.2_Silent_p.V681V			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	681					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTGGTTGGGATACAGGCTGTA	0.338																																					p.V681V													.	.			0			c.A2043G												104.0	87.0	93.0					X																	54285766		2202	4300	6502	SO:0001819	synonymous_variant	65267	exon11			TTGGGATACAGGC	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2043A>G	X.37:g.54285766T>C			Somatic	61	0	0		WXS	Illumina HiSeq	.	115	0.31	36	NM_001002838	1	0.00	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	CCDS14357.1																																																																																					0.338	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056799.2		NM_020922	
GNL3L	54552	broad.mit.edu	37	X	54584983	54584983	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:54584983G>T	ENST00000336470.4	+	15	1700	c.1561G>T	c.(1561-1563)Gac>Tac	p.D521Y	GNL3L_ENST00000360845.2_Missense_Mutation_p.D521Y	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	521					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CTGCTCAGTGGACCGCCGCTC	0.557																																					p.D521Y													.	GNL3L	73		0			c.G1561T												98.0	71.0	80.0					X																	54584983		2203	4300	6503	SO:0001583	missense	54552	exon15			TCAGTGGACCGCC	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1561G>T	X.37:g.54584983G>T	ENSP00000338573:p.Asp521Tyr		Somatic	90	0.0222222222	2		WXS	Illumina HiSeq	Phase_I	162	0.02	4	NM_001184819	27	0.00	0		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904158	0.33628	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.19806	2.12;2.12	4.1	4.1	0.47936	.	0.272191	0.40908	D	0.000988	T	0.14874	0.0359	N	0.19112	0.55	0.39297	D	0.964845	D	0.53151	0.958	B	0.43990	0.438	T	0.03139	-1.1068	10	0.45353	T	0.12	-8.1596	10.6527	0.45657	0.0:0.0:1.0:0.0	.	521	Q9NVN8	GNL3L_HUMAN	Y	521	ENSP00000338573:D521Y;ENSP00000354091:D521Y	ENSP00000338573:D521Y	D	+	1	0	GNL3L	54601708	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.067000	0.64357	2.275000	0.75901	0.513000	0.50165	GAC			0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056805.1		NM_019067	
SPIN4	139886	broad.mit.edu	37	X	62570276	62570276	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:62570276G>T	ENST00000335144.3	-	1	942	c.423C>A	c.(421-423)gtC>gtA	p.V141V	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Silent_p.V123V	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	141					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CTCGCGCCAGGACCATACCCT	0.478																																					p.V141V													.	SPIN4	29		0			c.C423A												130.0	127.0	128.0					X																	62570276		2102	4185	6287	SO:0001819	synonymous_variant	139886	exon1			CGCCAGGACCATA	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.423C>A	X.37:g.62570276G>T			Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	249	0.02	4	NM_001012968	5	0.00	0	B3KX90|Q5JUL2	Silent	SNP	ENST00000335144.3	37	CCDS43964.1																																																																																					0.478	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001012968	
AMER1	139285	broad.mit.edu	37	X	63412939	63412939	+	Silent	SNP	T	T	C			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000374869.3_Silent_p.G76G|AMER1_ENST00000403336.1_Silent_p.G76G	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	76					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTTTGCTCCGTCCCCCTCCAA	0.537																																					p.G76G													.	.			67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.A228G												129.0	102.0	111.0					X																	63412939		2203	4300	6503	SO:0001819	synonymous_variant	139285	exon2			GCTCCGTCCCCCT	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.228A>G	X.37:g.63412939T>C			Somatic	101	0.0099009901	1		WXS	Illumina HiSeq	Phase_I	270	0.03	7	NM_152424	0		0	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																					0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316584.1		NM_152424	
PJA1	64219	broad.mit.edu	37	X	68382256	68382257	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:68382256_68382257insA	ENST00000361478.1	-	2	1202_1203	c.825_826insT	c.(823-828)tttgatfs	p.D276fs	PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Frame_Shift_Ins_p.D276fs|PJA1_ENST00000374571.4_Frame_Shift_Ins_p.D221fs|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	276	Poly-Asp.				protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCATCAGTATCAAAAAAAATTT	0.495																																					p.D276_T277delinsX													.	PJA1	106		0			c.826_827insT																																									SO:0001589	frameshift_variant	64219	exon2			CAGTATCAAAAAA	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.826dupT	X.37:g.68382264_68382264dupA	ENSP00000355014:p.Asp276fs		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	181	0.04	7	NM_145119	73	0.00	0	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Frame_Shift_Ins	INS	ENST00000361478.1	37	CCDS14393.1																																																																																					0.495	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000057031.2		NM_145119	
P2RY4	5030	broad.mit.edu	37	X	69478692	69478692	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:69478692G>T	ENST00000374519.2	-	1	962	c.783C>A	c.(781-783)ttC>ttA	p.F261L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	261					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGGTGATGTGGAAAGGCACGA	0.562																																					p.F261L													.	P2RY4	39		0			c.C783A												66.0	53.0	57.0					X																	69478692		2203	4300	6503	SO:0001583	missense	5030	exon1			GATGTGGAAAGGC	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.783C>A	X.37:g.69478692G>T	ENSP00000363643:p.Phe261Leu		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	186	0.02	3	NM_002565	0		0	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586644	0.66105	.	.	ENSG00000186912	ENST00000374519	T	0.20200	2.09	4.53	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.43033	0.1229	M	0.80422	2.495	0.52099	D	0.99994	D	0.89917	1.0	D	0.97110	1.0	T	0.21827	-1.0234	10	0.66056	D	0.02	.	6.8316	0.23913	0.2949:0.0:0.7051:0.0	.	261	P51582	P2RY4_HUMAN	L	261	ENSP00000363643:F261L	ENSP00000363643:F261L	F	-	3	2	P2RY4	69395417	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.935000	0.40173	0.384000	0.24942	0.589000	0.80489	TTC			0.562	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057058.2		NM_002565	
SLC7A3	84889	broad.mit.edu	37	X	70146767	70146767	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:70146767G>T	ENST00000374299.3	-	9	1555	c.1411C>A	c.(1411-1413)Cca>Aca	p.P471T	SLC7A3_ENST00000298085.4_Missense_Mutation_p.P471T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	471					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGAGAGTGGAGTGGGGATG	0.488																																					p.P471T													.	SLC7A3	76		0			c.C1411A												111.0	97.0	102.0					X																	70146767		2203	4300	6503	SO:0001583	missense	84889	exon9			AGAGTGGAGTGGG	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1411C>A	X.37:g.70146767G>T	ENSP00000363417:p.Pro471Thr		Somatic	121	0	0		WXS	Illumina HiSeq	Phase_I	261	0.02	5	NM_032803	454	0.00	0	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	G	0.620	-0.821454	0.02755	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.87887	-2.31;-2.31	5.31	2.48	0.30137	.	0.641133	0.16845	N	0.197186	D	0.82282	0.5003	L	0.60845	1.875	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.63932	-0.6525	10	0.15952	T	0.53	.	10.9363	0.47247	0.0:0.5346:0.3265:0.1389	.	471	Q8WY07	CTR3_HUMAN	T	471	ENSP00000363417:P471T;ENSP00000298085:P471T	ENSP00000298085:P471T	P	-	1	0	SLC7A3	70063492	0.001000	0.12720	0.075000	0.20258	0.618000	0.37518	0.754000	0.26390	0.199000	0.20427	-0.346000	0.07831	CCA			0.488	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057080.1		NM_032803	
ZMYM3	9203	broad.mit.edu	37	X	70470506	70470506	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:70470506C>T	ENST00000353904.2	-	5	1036	c.849G>A	c.(847-849)cgG>cgA	p.R283R	ZMYM3_ENST00000373982.1_Silent_p.R285R|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Silent_p.R283R|ZMYM3_ENST00000373988.1_Silent_p.R285R|ZMYM3_ENST00000314425.5_Silent_p.R283R|ZMYM3_ENST00000373998.1_Silent_p.R283R|ZMYM3_ENST00000373984.3_Silent_p.R285R	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	283					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCGCCGGGGCCGGAATGGCA	0.562																																					p.R283R													.	ZMYM3	137		0			c.G849A												53.0	39.0	43.0					X																	70470506		2203	4300	6503	SO:0001819	synonymous_variant	9203	exon5			CCGGGGCCGGAAT	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.849G>A	X.37:g.70470506C>T			Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	237	0.01	3	NM_005096	22	0.00	0	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																					0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000057154.1		NM_201599	
RPS6KA6	27330	broad.mit.edu	37	X	83360833	83360833	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:83360833G>A	ENST00000262752.2	-	16	1424	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R473C	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	473	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R473C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGTCCATAGCGCATCAATATT	0.313																																					p.R473C													.	RPS6KA6	116		1	Substitution - Missense(1)	large_intestine(1)	c.C1417T												112.0	101.0	104.0					X																	83360833		2203	4293	6496	SO:0001583	missense	27330	exon16			CATAGCGCATCAA	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1417C>T	X.37:g.83360833G>A	ENSP00000262752:p.Arg473Cys		Somatic	327	0	0		WXS	Illumina HiSeq	Phase_I	530	0.01	5	NM_014496	0		0	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182943	0.78677	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.67698	-0.28;-0.28	4.96	4.09	0.47781	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.81072	-0.1098	10	0.72032	D	0.01	.	12.68	0.56916	0.0828:0.0:0.9172:0.0	.	473;473	B7ZL90;Q9UK32	.;KS6A6_HUMAN	C	473	ENSP00000262752:R473C;ENSP00000440830:R473C	ENSP00000262752:R473C	R	-	1	0	RPS6KA6	83247489	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.758000	0.85224	0.985000	0.38656	0.544000	0.68410	CGC			0.313	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057372.1		NM_014496	
SATL1	340562	broad.mit.edu	37	X	84362715	84362715	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:84362715G>T	ENST00000395409.3	-	1	1259	c.699C>A	c.(697-699)ggC>ggA	p.G233G	SATL1_ENST00000332921.5_Silent_p.G233G|SATL1_ENST00000509231.1_Silent_p.G420G			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	233	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.G420G(2)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTGGCTCAGGCCTGTTTGCC	0.577																																					p.G420G													.	SATL1	70		2	Substitution - coding silent(2)	lung(2)	c.C1260A												265.0	188.0	214.0					X																	84362715		2203	4300	6503	SO:0001819	synonymous_variant	340562	exon1			GCTCAGGCCTGTT	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.699C>A	X.37:g.84362715G>T			Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	284	0.01	4	NM_001012980	0		0	A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37																																																																																						0.577	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_291339	
SATL1	340562	broad.mit.edu	37	X	84363309	84363309	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:84363309G>T	ENST00000395409.3	-	1	665	c.105C>A	c.(103-105)gtC>gtA	p.V35V	SATL1_ENST00000332921.5_Silent_p.V35V|SATL1_ENST00000509231.1_Silent_p.V222V			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	35	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTGGCTGGGGACTTGCTGGC	0.527																																					p.V222V													.	SATL1	70		0			c.C666A												259.0	179.0	206.0					X																	84363309		2203	4300	6503	SO:0001819	synonymous_variant	340562	exon1			GCTGGGGACTTGC	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.105C>A	X.37:g.84363309G>T			Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	174	0.02	3	NM_001012980	0		0	A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37																																																																																						0.527	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_291339	
NXF5	55998	broad.mit.edu	37	X	101096670	101096671	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:101096670_101096671insT	ENST00000361708.2	-	5	574_575	c.215_216insA	c.(214-216)aagfs	p.K72fs	NXF5_ENST00000537026.1_Frame_Shift_Ins_p.K72fs|NXF5_ENST00000473265.2_Frame_Shift_Ins_p.K72fs			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	72	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CATCATAAATCTTATAACTGAC	0.49																																					p.K72fs													.	NXF5	65		0			c.216_217insA																																									SO:0001589	frameshift_variant	55998	exon5			ATAAATCTTATAA	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.216dupA	X.37:g.101096672_101096672dupT	ENSP00000355286:p.Lys72fs		Somatic	337	0	0		WXS	Illumina HiSeq	Phase_I	659	0.01	5	NM_032946	0		0	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Frame_Shift_Ins	INS	ENST00000361708.2	37																																																																																						0.490	NXF5-201	KNOWN	basic	protein_coding	protein_coding					
SLC25A53	401612	broad.mit.edu	37	X	103349555	103349555	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:103349555G>T	ENST00000357421.4	-	2	566	c.386C>A	c.(385-387)gCc>gAc	p.A129D		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	129					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GAGTGCCACGGCCTCCACCAC	0.572																																					p.A129D													.	.			0			c.C386A												74.0	78.0	77.0					X																	103349555		2203	4299	6502	SO:0001583	missense	401612	exon2			GCCACGGCCTCCA		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.386C>A	X.37:g.103349555G>T	ENSP00000361681:p.Ala129Asp		Somatic	68	0.0147058824	1		WXS	Illumina HiSeq	Phase_I	123	0.02	3	NM_001012755	0		0	B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	18.19	3.569754	0.65765	.	.	ENSG00000176274	ENST00000357421	T	0.79352	-1.26	4.18	3.29	0.37713	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.82716	2.605	0.53688	D	0.999978	D	0.76494	0.999	D	0.75020	0.985	D	0.87062	0.2154	10	0.87932	D	0	-48.1791	10.1894	0.43017	0.0:0.0:0.7995:0.2005	.	129	Q5H9E4	MCAR6_HUMAN	D	129	ENSP00000361681:A129D	ENSP00000361681:A129D	A	-	2	0	MCART6	103236211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.724000	0.74747	0.864000	0.35578	0.594000	0.82650	GCC			0.572	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057761.1		NM_001012755	
NXT2	55916	broad.mit.edu	37	X	108784834	108784834	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:108784834G>A	ENST00000372106.1	+	3	364	c.233G>A	c.(232-234)tGc>tAc	p.C78Y	NXT2_ENST00000218004.1_Missense_Mutation_p.C133Y|NXT2_ENST00000372103.1_Missense_Mutation_p.C50Y|NXT2_ENST00000372107.1_Missense_Mutation_p.C50Y	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	78	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATGTTAGATTGCCAACCAGTT	0.383																																					p.C133Y													.	NXT2	16		0			c.G398A												121.0	105.0	111.0					X																	108784834		2203	4300	6503	SO:0001583	missense	55916	exon4			TAGATTGCCAACC	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.233G>A	X.37:g.108784834G>A	ENSP00000361178:p.Cys78Tyr		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	265	0.02	4	NM_018698	15	0.00	0	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	ENST00000372106.1	37	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917117	0.73098	.	.	ENSG00000101888	ENST00000218004;ENST00000372107;ENST00000372106;ENST00000372103	.	.	.	5.33	5.33	0.75918	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.86953	2.85	0.80722	D	1	P;D	0.53619	0.574;0.961	P;P	0.52598	0.477;0.703	T	0.82224	-0.0563	9	0.66056	D	0.02	.	18.729	0.91728	0.0:0.0:1.0:0.0	.	78;133	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	Y	133;50;78;50	.	ENSP00000218004:C133Y	C	+	2	0	NXT2	108671490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.562000	0.86427	0.600000	0.82982	TGC			0.383	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057886.1		NM_018698	
ALG13	79868	broad.mit.edu	37	X	110970932	110970933	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:110970932_110970933insT	ENST00000394780.3	+	18	2193_2194	c.2181_2182insT	c.(2182-2184)ttgfs	p.L728fs	ALG13_ENST00000251943.4_Frame_Shift_Ins_p.L624fs|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	728					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TGCCCAGGGGCTTGGAAGAAAC	0.426																																					p.G727fs													.	ALG13	230		0			c.2181_2182insT																																									SO:0001589	frameshift_variant	79868	exon18			CAGGGGCTTGGAA	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2183dupT	X.37:g.110970934_110970934dupT	ENSP00000378260:p.Leu728fs		Somatic	217	0	0		WXS	Illumina HiSeq	Phase_I	369	0.02	7	NM_001099922	9	0.00	0	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Ins	INS	ENST00000394780.3	37	CCDS55477.1																																																																																					0.426	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272895.1		NM_018466	
DCAF12L1	139170	broad.mit.edu	37	X	125686305	125686305	+	Missense_Mutation	SNP	G	G	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:125686305G>A	ENST00000371126.1	-	1	529	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	96								p.T96R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTTGTTGACCGTGCCCAGCTC	0.657																																					p.T96M													.	DCAF12L1	135		1	Substitution - Missense(1)	lung(1)	c.C287T												92.0	71.0	78.0					X																	125686305		2203	4300	6503	SO:0001583	missense	139170	exon1			TTGACCGTGCCCA	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.287C>T	X.37:g.125686305G>A	ENSP00000360167:p.Thr96Met		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	292	0.01	3	NM_178470	1	0.00	0	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	g	14.91	2.675486	0.47781	.	.	ENSG00000198889	ENST00000371126	T	0.63580	-0.05	3.54	3.54	0.40534	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.69780	0.3149	L	0.47716	1.5	0.20489	N	0.999892	D	0.89917	1.0	D	0.63957	0.92	T	0.58578	-0.7612	9	0.42905	T	0.14	.	12.2392	0.54532	0.0:0.0:1.0:0.0	.	96	Q5VU92	DC121_HUMAN	M	96	ENSP00000360167:T96M	ENSP00000360167:T96M	T	-	2	0	DCAF12L1	125513986	1.000000	0.71417	0.267000	0.24556	0.545000	0.35147	1.965000	0.40471	2.036000	0.60181	0.498000	0.49722	ACG			0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058186.1		NM_178470	
GPR112	139378	broad.mit.edu	37	X	135405334	135405334	+	Silent	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:135405334G>T	ENST00000394143.1	+	5	759	c.468G>T	c.(466-468)ggG>ggT	p.G156G	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Silent_p.G93G|GPR112_ENST00000370652.1_Silent_p.G156G|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	156					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACCTCATGGGACTCTGTTCC	0.463																																					p.G156G													.	GPR112	459		0			c.G468T												173.0	150.0	158.0					X																	135405334		2203	4300	6503	SO:0001819	synonymous_variant	139378	exon5			TCATGGGACTCTG	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.468G>T	X.37:g.135405334G>T			Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	222	0.02	4	NM_153834	0		0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																					0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000286639.1			
MIR320D2	100302169	broad.mit.edu	37	X	140008380	140008380	+	RNA	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:140008380G>T	ENST00000408154.1	-	0	4					NR_031725.1				microRNA 320d-2																		GAACTGGGAAGAGAAGGCTTA	0.343																																					.													.	.			0			.												27.0	23.0	24.0					X																	140008380		1568	3579	5147			0	.			TGGGAAGAGAAGG			Xq27.1	2011-09-12		2008-12-18	ENSG00000221081	ENSG00000221081		"""ncRNAs / Micro RNAs"""	35388	non-coding RNA	RNA, micro				MIRN320D2			Standard	NR_031725		Approved	hsa-mir-320d-2	uc022cfg.1				X.37:g.140008380G>T			Somatic	495	0.002020202	1		WXS	Illumina HiSeq	Phase_I	781	0.01	7	.	0		0		RNA	SNP	ENST00000408154.1	37																																																																																						0.343	MIR320D2-201	KNOWN	basic	miRNA	miRNA				NR_031725	
SLITRK4	139065	broad.mit.edu	37	X	142717464	142717464	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:142717464G>T	ENST00000381779.4	-	2	1686	c.1461C>A	c.(1459-1461)agC>agA	p.S487R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S487R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S487R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	487						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAACAGGCAGGCTCTTTAGGA	0.423																																					p.S487R													.	SLITRK4	162		0			c.C1461A												84.0	90.0	88.0					X																	142717464		2203	4300	6503	SO:0001583	missense	139065	exon2			AGGCAGGCTCTTT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1461C>A	X.37:g.142717464G>T	ENSP00000371198:p.Ser487Arg		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	258	0.01	3	NM_001184750	5	0.00	0	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076274	0.36662	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.55052	0.54;0.54;0.54	5.49	4.61	0.57282	.	0.043855	0.85682	D	0.000000	T	0.52008	0.1708	L	0.39898	1.24	0.58432	D	0.99999	P	0.50528	0.936	P	0.54706	0.759	T	0.54456	-0.8291	10	0.62326	D	0.03	-11.823	5.8291	0.18570	0.2621:0.0:0.7379:0.0	.	487	Q8IW52	SLIK4_HUMAN	R	487	ENSP00000371198:S487R;ENSP00000349400:S487R;ENSP00000336627:S487R	ENSP00000336627:S487R	S	-	3	2	SLITRK4	142545130	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	0.639000	0.24690	2.445000	0.82738	0.600000	0.82982	AGC			0.423	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058617.1		NM_173078	
MAGEA11	4110	broad.mit.edu	37	X	148797652	148797653	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:148797652_148797653insA	ENST00000355220.5	+	5	608_609	c.506_507insA	c.(505-510)ccaagtfs	p.S170fs	MAGEA11_ENST00000333104.4_Frame_Shift_Ins_p.S141fs	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	170						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCTGAGTCACCAAGTCCTCCCC	0.569																																					p.P169fs													.	MAGEA11	86		0			c.506_507insA																																									SO:0001589	frameshift_variant	4110	exon5			AGTCACCAAGTCC		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.508dupA	X.37:g.148797654_148797654dupA	ENSP00000347358:p.Ser170fs		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	376	0.02	7	NM_005366	2	0.00	0	Q5ETU4|Q6ZRZ5	Frame_Shift_Ins	INS	ENST00000355220.5	37	CCDS48180.1																																																																																					0.569	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058725.4		NM_005366	
CNGA2	1260	broad.mit.edu	37	X	150908187	150908187	+	Silent	SNP	C	C	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:150908187C>T	ENST00000329903.4	+	3	390	c.357C>T	c.(355-357)ggC>ggT	p.G119G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	119					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGGATGGCGAGGACAAAG	0.537																																					p.G119G													.	CNGA2	136		0			c.C357T												125.0	95.0	105.0					X																	150908187		2203	4300	6503	SO:0001819	synonymous_variant	1260	exon4			GGATGGCGAGGAC	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.357C>T	X.37:g.150908187C>T			Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	148	0.03	4	NM_005140	0		0	A0AVD0	Silent	SNP	ENST00000329903.4	37	CCDS14701.1																																																																																					0.537	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060888.1		NM_005140	
PNMA5	114824	broad.mit.edu	37	X	152159584	152159584	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:152159584G>T	ENST00000439251.1	-	2	997	c.559C>A	c.(559-561)Ccc>Acc	p.P187T	PNMA5_ENST00000535214.1_Missense_Mutation_p.P187T|PNMA5_ENST00000452693.1_Missense_Mutation_p.P187T|PNMA5_ENST00000361887.5_Missense_Mutation_p.P187T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	187					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCATATGGGCATTATCTCA	0.532																																					p.P187T													.	PNMA5	63		0			c.C559A												83.0	71.0	75.0					X																	152159584		2203	4300	6503	SO:0001583	missense	114824	exon2			ATATGGGCATTAT	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.559C>A	X.37:g.152159584G>T	ENSP00000388850:p.Pro187Thr		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	148	0.02	3	NM_001103150	0		0	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	G	6.370	0.436335	0.12104	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	3.05	-0.205	0.13196	.	.	.	.	.	T	0.07007	0.0178	L	0.47190	1.495	0.09310	N	1	B	0.23316	0.083	B	0.28638	0.092	T	0.44329	-0.9335	9	0.22109	T	0.4	.	2.9881	0.05974	0.1609:0.0:0.3786:0.4605	.	187	Q96PV4	PNMA5_HUMAN	T	187	ENSP00000354834:P187T;ENSP00000445775:P187T;ENSP00000388850:P187T;ENSP00000392342:P187T	ENSP00000354834:P187T	P	-	1	0	PNMA5	151910240	0.030000	0.19436	0.001000	0.08648	0.046000	0.14306	0.043000	0.13971	-0.152000	0.11156	0.468000	0.43344	CCC			0.532	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060925.1		NM_052926	
DUSP9	1852	broad.mit.edu	37	X	152914704	152914704	+	Missense_Mutation	SNP	C	C	A			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:152914704C>A	ENST00000342782.3	+	3	656	c.391C>A	c.(391-393)Cag>Aag	p.Q131K	DUSP9_ENST00000370167.4_Missense_Mutation_p.Q131K			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	131	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGATTCCAGGCCGAGTG	0.682																																					p.Q131K													.	DUSP9	41		0			c.C391A												25.0	29.0	27.0					X																	152914704		2141	4148	6289	SO:0001583	missense	1852	exon3			AGATTCCAGGCCG	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.391C>A	X.37:g.152914704C>A	ENSP00000345853:p.Gln131Lys		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	64	0.06	4	NM_001395	14	0.00	0	D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	c	19.55	3.848248	0.71603	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	T;T	0.41400	1.0;1.0	4.72	4.72	0.59763	Rhodanese-like (5);	0.175230	0.39274	N	0.001405	T	0.44350	0.1289	L	0.39514	1.22	0.42048	D	0.991108	P	0.46064	0.872	P	0.48873	0.593	T	0.35822	-0.9773	10	0.37606	T	0.19	.	15.6623	0.77197	0.0:1.0:0.0:0.0	.	131	Q99956	DUS9_HUMAN	K	131	ENSP00000359186:Q131K;ENSP00000345853:Q131K	ENSP00000345853:Q131K	Q	+	1	0	DUSP9	152567898	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.608000	0.61141	1.938000	0.56188	0.529000	0.55759	CAG			0.682	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061022.3		NM_001395	
G6PD	2539	broad.mit.edu	37	X	153760882	153760882	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:153760882G>T	ENST00000393564.2	-	10	1299	c.1187C>A	c.(1186-1188)cCc>cAc	p.P396H	G6PD_ENST00000369620.2_Missense_Mutation_p.P442H|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000393562.2_Missense_Mutation_p.P426H	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	396			P -> L (in Bari; class I). {ECO:0000269|PubMed:7959695}.		carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCTCGTTGGGCTGCACGCG	0.597																																					p.P426H													.	G6PD	73		0			c.C1277A	GRCh37	CM940798	G6PD	M								81.0	69.0	73.0					X																	153760882		2203	4300	6503	SO:0001583	missense	2539	exon10			TCGTTGGGCTGCA	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1187C>A	X.37:g.153760882G>T	ENSP00000377194:p.Pro396His		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	230	0.03	6	NM_000402	209	0.01	2	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889794	0.72524	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99932	-8.23;-8.23;-8.23	5.82	5.82	0.92795	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.056776	0.64402	D	0.000001	D	0.99943	0.9975	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96008	0.8999	10	0.87932	D	0	.	16.3144	0.82913	0.0:0.0:1.0:0.0	.	396;426	P11413;P11413-3	G6PD_HUMAN;.	H	426;396;396;442	ENSP00000377192:P426H;ENSP00000377194:P396H;ENSP00000358633:P442H	ENSP00000291567:P396H	P	-	2	0	G6PD	153414076	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	9.202000	0.95026	2.457000	0.83068	0.597000	0.82753	CCC			0.597	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061170.3		NM_000402	
USP9Y	8287	broad.mit.edu	37	Y	14902338	14902338	+	Splice_Site	SNP	A	A	G			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrY:14902338A>G	ENST00000338981.3	+	25	4506		c.e25-1		USP9Y_ENST00000426564.2_Splice_Site	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked						BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CACTTTTTTCAGATTAACCAA	0.348																																					.													.	USP9Y	49		0			c.3562-2A>G												61.0	58.0	59.0					Y																	14902338		592	1927	2519	SO:0001630	splice_region_variant	8287	exon25			TTTTTCAGATTAA	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.3562-1A>G	Y.37:g.14902338A>G			Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	202	0.02	4	NM_004654	0		0	O14601	Splice_Site	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																					0.348	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088703.2		NM_004654	Intron
DDX3Y	8653	broad.mit.edu	37	Y	15026886	15026886	+	Missense_Mutation	SNP	G	G	T			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrY:15026886G>T	ENST00000336079.3	+	9	956	c.850G>T	c.(850-852)Gcc>Tcc	p.A284S	DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Missense_Mutation_p.A284S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	284	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTATGAGGAAGCCAGAAAAGT	0.343																																					p.A284S													.	DDX3Y	13		0			c.G850T												50.0	48.0	49.0					Y																	15026886		582	1924	2506	SO:0001583	missense	8653	exon9			GAGGAAGCCAGAA	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.850G>T	Y.37:g.15026886G>T	ENSP00000336725:p.Ala284Ser		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	100	0.03	3	NM_004660	16	0.00	0	B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	CCDS14782.1																																																																																					0.343	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088407.1		NM_004660	
