#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_Algorithm	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	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_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
HSPG2	3339	hgsc.bcm.edu	37	1	22163367	22163367	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr1:22163367C>T	ENST00000374695.3	-	75	10362	c.10283G>A	c.(10282-10284)gGt>gAt	p.G3428D		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3428	Ig-like C2-type 20.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GAGCTGGGTACCCCGGTCGCT	0.672																																					p.G3428D		Atlas-SNP	.											.	HSPG2	311	.	0			c.G10283A						.						36.0	32.0	34.0					1																	22163367		2192	4292	6484	SO:0001583	missense	3339	exon75			TGGGTACCCCGGT	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10283G>A	chr1.hg19:g.22163367C>T	ENSP00000363827:p.Gly3428Asp	1385.0	0.0		1480.0	559.0	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	hg19	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	7.364	0.625391	0.14257	.	.	ENSG00000142798	ENST00000374695	T	0.64618	-0.11	4.59	1.72	0.24424	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.178548	0.26959	N	0.021621	T	0.41050	0.1142	N	0.05280	-0.08	0.30668	N	0.753705	B;P	0.41978	0.004;0.767	B;P	0.44946	0.029;0.465	T	0.43686	-0.9376	10	0.29301	T	0.29	.	8.6094	0.33793	0.0:0.7449:0.0:0.2551	.	1368;3428	Q59EG0;P98160	.;PGBM_HUMAN	D	3428	ENSP00000363827:G3428D	ENSP00000363827:G3428D	G	-	2	0	HSPG2	22035954	0.995000	0.38212	0.829000	0.32907	0.934000	0.57294	1.152000	0.31663	0.197000	0.20387	0.655000	0.94253	GGT	.	.		0.672	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
SERBP1	26135	hgsc.bcm.edu	37	1	67885696	67885696	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr1:67885696T>C	ENST00000370995.2	-	6	1077	c.992A>G	c.(991-993)gAa>gGa	p.E331G	SERBP1_ENST00000484880.1_5'UTR|RNU6-387P_ENST00000411331.1_RNA|SERBP1_ENST00000361219.6_Missense_Mutation_p.E316G|SERBP1_ENST00000370994.4_Missense_Mutation_p.E310G|SERBP1_ENST00000370990.5_Missense_Mutation_p.E325G			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	331					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TTTTACCTCTTCACTCTTTGA	0.323																																					p.E331G		Atlas-SNP	.											.	SERBP1	31	.	0			c.A992G						.						77.0	77.0	77.0					1																	67885696		2203	4300	6503	SO:0001583	missense	26135	exon6			ACCTCTTCACTCT	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.992A>G	chr1.hg19:g.67885696T>C	ENSP00000360034:p.Glu331Gly	377.0	0.0		220.0	131.0	NM_001018067	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	hg19	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.031913	0.54790	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.45	5.45	0.79879	.	0.089542	0.85682	D	0.000000	T	0.50326	0.1609	L	0.27053	0.805	0.54753	D	0.999987	B;D;B;B	0.67145	0.023;0.996;0.137;0.028	B;P;B;B	0.62649	0.007;0.905;0.061;0.048	T	0.49370	-0.8947	9	0.24483	T	0.36	-3.9322	15.5093	0.75766	0.0:0.0:0.0:1.0	.	373;388;316;331	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	G	310;331;316;325	.	ENSP00000354591:E316G	E	-	2	0	SERBP1	67658284	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.101000	0.71479	2.064000	0.61679	0.377000	0.23210	GAA	.	.		0.323	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067	
SERBP1	26135	hgsc.bcm.edu	37	1	67885701	67885701	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr1:67885701C>G	ENST00000370995.2	-	6	1072	c.987G>C	c.(985-987)aaG>aaC	p.K329N	SERBP1_ENST00000484880.1_5'UTR|RNU6-387P_ENST00000411331.1_RNA|SERBP1_ENST00000361219.6_Missense_Mutation_p.K314N|SERBP1_ENST00000370994.4_Missense_Mutation_p.K308N|SERBP1_ENST00000370990.5_Missense_Mutation_p.K323N			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	329					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CCTCTTCACTCTTTGATTTAT	0.313																																					p.K329N		Atlas-SNP	.											.	SERBP1	31	.	0			c.G987C						.						76.0	76.0	76.0					1																	67885701		2203	4300	6503	SO:0001583	missense	26135	exon6			TTCACTCTTTGAT	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.987G>C	chr1.hg19:g.67885701C>G	ENSP00000360034:p.Lys329Asn	383.0	0.0		226.0	137.0	NM_001018067	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	hg19	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829690	0.71258	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.45	0.366	0.16136	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.80746	2.51	0.58432	D	0.999999	D;D;D;D	0.89917	0.981;1.0;1.0;0.999	D;D;D;D	0.85130	0.966;0.996;0.987;0.997	T	0.69355	-0.5167	9	0.56958	D	0.05	-8.5192	9.1115	0.36730	0.0:0.6351:0.0:0.3649	.	371;386;314;329	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	N	308;329;314;323	.	ENSP00000354591:K314N	K	-	3	2	SERBP1	67658289	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.684000	0.46951	0.021000	0.15133	0.460000	0.39030	AAG	.	.		0.313	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067	
KPRP	448834	hgsc.bcm.edu	37	1	152733603	152733603	+	Silent	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr1:152733603A>T	ENST00000606109.1	+	1	1567	c.1539A>T	c.(1537-1539)ctA>ctT	p.L513L	KPRP_ENST00000368773.1_Silent_p.L513L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	513						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGAGACCTAGGCTGTCATG	0.647																																					p.L513L		Atlas-SNP	.											.	KPRP	152	.	0			c.A1539T						.						59.0	60.0	59.0					1																	152733603		2203	4300	6503	SO:0001819	synonymous_variant	448834	exon2			AGACCTAGGCTGT	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1539A>T	chr1.hg19:g.152733603A>T		106.0	0.0		128.0	39.0	NM_001025231		Silent	SNP	ENST00000606109.1	hg19	CCDS30862.1																																																																																			.	.		0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
CACNA1E	777	hgsc.bcm.edu	37	1	181705462	181705462	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr1:181705462G>T	ENST00000367573.2	+	22	3314	c.3314G>T	c.(3313-3315)aGa>aTa	p.R1105I	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1056I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1086I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1086I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R712I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1037I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1105I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1105					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGAGATCAGAgaggatgag	0.502																																					p.R1105I		Atlas-SNP	.											.	CACNA1E	778	.	0			c.G3314T						.						81.0	100.0	94.0					1																	181705462		2131	4237	6368	SO:0001583	missense	777	exon22			AGATCAGAGAGGA	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3314G>T	chr1.hg19:g.181705462G>T	ENSP00000356545:p.Arg1105Ile	178.0	0.0		165.0	58.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182825	0.38511	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96200	-3.89;-3.89;-3.88;-3.89;-3.94;-3.88;-3.88	5.28	2.98	0.34508	.	0.875561	0.10070	N	0.719890	D	0.88647	0.6493	N	0.08118	0	0.29883	N	0.825884	B;B;B	0.22683	0.073;0.0;0.021	B;B;B	0.19946	0.027;0.0;0.027	T	0.81927	-0.0709	10	0.59425	D	0.04	.	8.3613	0.32361	0.8306:0.0:0.1694:0.0	.	1086;1105;1105	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1105;1086;1056;1037;712;1086;1105	ENSP00000356542:R1105I;ENSP00000434814:R1086I;ENSP00000350183:R1056I;ENSP00000351101:R1037I;ENSP00000356539:R712I;ENSP00000353222:R1086I;ENSP00000356545:R1105I	ENSP00000350183:R1056I	R	+	2	0	CACNA1E	179972085	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.423000	0.52756	0.337000	0.23665	-0.378000	0.06908	AGA	.	.		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
PM20D1	148811	hgsc.bcm.edu	37	1	205811830	205811830	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr1:205811830T>A	ENST00000367136.4	-	7	921	c.877A>T	c.(877-879)Act>Tct	p.T293S	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	293					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGCAATACAGTCACCACTGTC	0.443																																					p.T293S		Atlas-SNP	.											.	PM20D1	56	.	0			c.A877T						.						128.0	117.0	121.0					1																	205811830		2203	4300	6503	SO:0001583	missense	148811	exon7			ATACAGTCACCAC		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.877A>T	chr1.hg19:g.205811830T>A	ENSP00000356104:p.Thr293Ser	40.0	0.0		44.0	13.0	NM_152491	Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	hg19	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	T	3.399	-0.122560	0.06795	.	.	ENSG00000162877	ENST00000367136	T	0.06449	3.3	5.7	3.37	0.38596	Peptidase M20, dimerisation (2);	1.034310	0.07497	N	0.906621	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.17098	0.017	T	0.47249	-0.9132	10	0.08381	T	0.77	.	4.69	0.12776	0.1297:0.2139:0.0:0.6564	.	293	Q6GTS8	P20D1_HUMAN	S	293	ENSP00000356104:T293S	ENSP00000356104:T293S	T	-	1	0	PM20D1	204078453	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.343000	0.19944	0.978000	0.38470	-0.421000	0.06004	ACT	.	.		0.443	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491	
OR2T11	127077	hgsc.bcm.edu	37	1	248790047	248790047	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr1:248790047C>G	ENST00000330803.2	-	1	444	c.383G>C	c.(382-384)aGa>aCa	p.R128T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACTGGGTATCTCAGAGGGTT	0.547																																					p.R128T		Atlas-SNP	.											.	OR2T11	64	.	0			c.G383C						.						53.0	59.0	57.0					1																	248790047		2052	4234	6286	SO:0001583	missense	127077	exon1			GGGTATCTCAGAG	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.383G>C	chr1.hg19:g.248790047C>G	ENSP00000328934:p.Arg128Thr	169.0	0.0		182.0	69.0	NM_001001964	Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	hg19	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	13.28	2.190363	0.38707	.	.	ENSG00000183130	ENST00000330803	T	0.00882	5.58	4.38	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000172	T	0.01800	0.0057	M	0.84082	2.675	0.25920	N	0.983127	D	0.52996	0.957	B	0.43867	0.434	T	0.41858	-0.9485	10	0.87932	D	0	.	4.3372	0.11092	0.1623:0.5906:0.1574:0.0897	.	128	Q8NH01	O2T11_HUMAN	T	128	ENSP00000328934:R128T	ENSP00000328934:R128T	R	-	2	0	OR2T11	246856670	0.001000	0.12720	0.256000	0.24389	0.380000	0.30137	0.127000	0.15790	0.994000	0.38892	0.655000	0.94253	AGA	.	.		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964	
NTSR2	23620	hgsc.bcm.edu	37	2	11798694	11798695	+	Missense_Mutation	DNP	GG	GG	AT	rs77419493	byFrequency	TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:11798694_11798695GG>AT	ENST00000306928.5	-	4	1177_1178	c.1143_1144CC>AT	c.(1141-1146)caCCcc>caATcc	p.381_382HP>QS		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	381					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CGCTTCATGGGGTGGTGCTCTC	0.564																																					p.P382S|p.H381Q		Atlas-SNP	.											.	NTSR2	36	.	0			c.C1144T|c.C1143A						.																																			SO:0001583	missense	23620	exon4			TCATGGGGTGGTG|CATGGGGTGGTGC	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1143_1144delinsAT	chr2.hg19:g.11798694_11798695delinsAT	ENSP00000303686:p.H381_P382delinsQS	96.0|95.0	0.0		92.0	20.0|21.0	NM_012344	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	hg19	CCDS1681.1																																																																																			.	G|0.997;T|0.003|.		0.564	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1		
FAM84A	151354	hgsc.bcm.edu	37	2	14774464	14774464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:14774464G>T	ENST00000295092.2	+	2	649	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Nonsense_Mutation_p.E121*	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	121										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			AGCGCTCTGCGAACCCGGCGA	0.716																																					p.E121X		Atlas-SNP	.											.	FAM84A	23	.	0			c.G361T						.						6.0	7.0	7.0					2																	14774464		2100	4142	6242	SO:0001587	stop_gained	151354	exon2			CTCTGCGAACCCG	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.361G>T	chr2.hg19:g.14774464G>T	ENSP00000295092:p.Glu121*	83.0	0.0		96.0	4.0	NM_145175	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Nonsense_Mutation	SNP	ENST00000295092.2	hg19	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.948052|8.948052	0.99014|0.99014	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969|ENST00000540701	.|.	.|.	.|.	4.96|4.96	4.02|4.02	0.46733|0.46733	.|.	0.221076|.	0.45606|.	D|.	0.000359|.	.|T	.|0.59595	.|0.2205	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63721	.|-0.6573	.|5	0.02654|0.87932	T|D	1|0	-16.6579|-16.6579	4.4396|4.4396	0.11568|0.11568	0.1898:0.3018:0.5084:0.0|0.1898:0.3018:0.5084:0.0	.|.	.|.	.|.	.|.	X|L	121|28	.|.	ENSP00000295092:E121X|ENSP00000443261:R28L	E|R	+|+	1|2	0|0	FAM84A|FAM84A	14691915|14691915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	3.511000|3.511000	0.53400|0.53400	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GAA|CGA	.	.		0.716	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175	
NRXN1	9378	hgsc.bcm.edu	37	2	50463932	50463932	+	Missense_Mutation	SNP	G	G	T	rs377333818		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:50463932G>T	ENST00000406316.2	-	18	5017	c.3541C>A	c.(3541-3543)Cat>Aat	p.H1181N	NRXN1_ENST00000402717.3_Missense_Mutation_p.H1173N|NRXN1_ENST00000405472.3_Missense_Mutation_p.H1173N|NRXN1_ENST00000404971.1_Missense_Mutation_p.H1221N|NRXN1_ENST00000342183.5_Missense_Mutation_p.H146N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.H1181N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H1181N|NRXN1_ENST00000401710.1_Missense_Mutation_p.H199N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1181	Laminin G-like 6. {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)	p.H1181N(1)|p.H1221N(1)|p.H1222N(1)|p.H146N(1)		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)			CTTACTATATGCAGTTCTAGG	0.398																																					p.H1221N		Atlas-SNP	.											NRXN1_ENST00000536085,colon,carcinoma,+2,8	NRXN1	1118	.	4	Substitution - Missense(4)	lung(4)	c.C3661A						.	G	ASN/HIS,ASN/HIS,ASN/HIS	0,4406		0,0,2203	95.0	86.0	89.0		3661,3541,436	5.7	1.0	2		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NRXN1	NM_001135659.1,NM_004801.4,NM_138735.2	68,68,68	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1221/1548,1181/1478,146/443	50463932	1,13005	2203	4300	6503	SO:0001583	missense	9378	exon19			CTATATGCAGTTC	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.3541C>A	chr2.hg19:g.50463932G>T	ENSP00000384311:p.His1181Asn	147.0	0.0		151.0	75.0	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	hg19	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964205	0.74131	0.0	1.16E-4	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.187162	0.34411	U	0.003987	D	0.88872	0.6555	M	0.82517	2.595	0.44289	D	0.997153	P;P;P;P	0.47910	0.734;0.683;0.88;0.902	P;P;P;P	0.61397	0.648;0.798;0.716;0.888	D	0.89430	0.3716	10	0.72032	D	0.01	.	19.7969	0.96490	0.0:0.0:1.0:0.0	.	1221;146;1181;1173	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	N	146;100;199;1221;1181;1173;1181;1222;1173;1181	ENSP00000341184:H146N;ENSP00000385580:H199N;ENSP00000385142:H1221N;ENSP00000384311:H1181N;ENSP00000434015:H1173N;ENSP00000385017:H1181N;ENSP00000385434:H1173N;ENSP00000385681:H1181N	ENSP00000341184:H146N	H	-	1	0	NRXN1	50317436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.653000	0.98506	2.679000	0.91253	0.650000	0.86243	CAT	.	.		0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
UGP2	7360	hgsc.bcm.edu	37	2	64112930	64112930	+	Silent	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:64112930G>A	ENST00000337130.5	+	6	1259	c.783G>A	c.(781-783)ctG>ctA	p.L261L	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Silent_p.L250L|UGP2_ENST00000394417.2_Silent_p.L250L|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Silent_p.L270L	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	261					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAGTGGATCTGTATATTCTTA	0.378																																					p.L261L		Atlas-SNP	.											.	UGP2	38	.	0			c.G783A						.						110.0	111.0	111.0					2																	64112930		2203	4300	6503	SO:0001819	synonymous_variant	7360	exon6			GGATCTGTATATT		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.783G>A	chr2.hg19:g.64112930G>A		152.0	0.0		121.0	20.0	NM_006759	Q07131|Q0P6K2|Q86Y81|Q9BU15	Silent	SNP	ENST00000337130.5	hg19	CCDS1875.1																																																																																			.	.		0.378	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759	
CTNNA2	1496	hgsc.bcm.edu	37	2	80816462	80816462	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:80816462G>A	ENST00000402739.4	+	14	2046	c.2041G>A	c.(2041-2043)Gca>Aca	p.A681T	AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A681T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A681T|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A360T|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A681T|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A681T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A715T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	681					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAGGAGAAGGCAAAAATAGC	0.493																																					p.A681T		Atlas-SNP	.											.	CTNNA2	462	.	0			c.G2041A						.						83.0	90.0	88.0					2																	80816462		2192	4299	6491	SO:0001583	missense	1496	exon15			GAGAAGGCAAAAA		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2041G>A	chr2.hg19:g.80816462G>A	ENSP00000384638:p.Ala681Thr	327.0	0.0		274.0	66.0	NM_001164883	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	hg19		.	.	.	.	.	.	.	.	.	.	G	23.4	4.408328	0.83340	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.76	5.76	0.90799	.	0.055163	0.64402	D	0.000001	T	0.57198	0.2037	M	0.64997	1.995	0.80722	D	1	B;D;P;P	0.60160	0.312;0.987;0.93;0.93	B;P;P;P	0.62298	0.236;0.9;0.548;0.548	T	0.51252	-0.8729	9	.	.	.	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	313;681;681;681	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	T	681;681;715;681;681;681;360	ENSP00000418191:A681T;ENSP00000419295:A681T;ENSP00000355398:A715T;ENSP00000384638:A681T;ENSP00000444675:A681T;ENSP00000441705:A681T;ENSP00000341500:A360T	.	A	+	1	0	CTNNA2	80669973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.726000	0.93360	0.655000	0.94253	GCA	.	.		0.493	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
FAHD2A	51011	hgsc.bcm.edu	37	2	96072725	96072725	+	Silent	SNP	G	G	A	rs544140833		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:96072725G>A	ENST00000233379.4	+	3	435	c.282G>A	c.(280-282)tcG>tcA	p.S94S	FAHD2A_ENST00000447036.1_Silent_p.S94S	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	94							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TACCACGGTCGGAGGTAACCT	0.597													g|||	1	0.000199681	0.0	0.0	5008	,	,		19592	0.0		0.001	False		,,,				2504	0.0				p.S94S		Atlas-SNP	.											.	FAHD2A	25	.	0			c.G282A						.						91.0	72.0	79.0					2																	96072725		2203	4300	6503	SO:0001819	synonymous_variant	51011	exon3			ACGGTCGGAGGTA	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.282G>A	chr2.hg19:g.96072725G>A		415.0	0.0		343.0	146.0	NM_016044	Q9Y3B0	Silent	SNP	ENST00000233379.4	hg19	CCDS2014.1																																																																																			.	.		0.597	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044	
ST6GAL2	84620	hgsc.bcm.edu	37	2	107459494	107459494	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:107459494T>A	ENST00000409382.3	-	2	1550	c.940A>T	c.(940-942)Ata>Tta	p.I314L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.I314L|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.I314L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	314					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GACCTACCTATTTCCTCGCCC	0.672																																					p.I314L		Atlas-SNP	.											.	ST6GAL2	159	.	0			c.A940T						.						10.0	11.0	11.0					2																	107459494		1702	3682	5384	SO:0001583	missense	84620	exon2			TACCTATTTCCTC	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.940A>T	chr2.hg19:g.107459494T>A	ENSP00000386942:p.Ile314Leu	173.0	0.0		182.0	45.0	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	hg19	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865360	0.71949	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.60920	0.15;0.15;0.15	4.92	4.92	0.64577	.	0.049037	0.85682	D	0.000000	T	0.69913	0.3164	M	0.85859	2.78	0.80722	D	1	B;P	0.41450	0.278;0.75	B;P	0.47827	0.163;0.558	T	0.75847	-0.3173	10	0.66056	D	0.02	.	14.0703	0.64856	0.0:0.0:0.0:1.0	.	314;314	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	314	ENSP00000355273:I314L;ENSP00000386942:I314L;ENSP00000387332:I314L	ENSP00000355273:I314L	I	-	1	0	ST6GAL2	106825926	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	7.603000	0.82811	1.971000	0.57363	0.533000	0.62120	ATA	.	.		0.672	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
ZC3H6	376940	hgsc.bcm.edu	37	2	113082111	113082111	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:113082111T>C	ENST00000409871.1	+	10	2124	c.1723T>C	c.(1723-1725)Tac>Cac	p.Y575H	ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y575H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	575							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGGTTCATCATACCAGCAAAG	0.458																																					p.Y575H		Atlas-SNP	.											.	ZC3H6	93	.	0			c.T1723C						.						33.0	32.0	32.0					2																	113082111		1906	4118	6024	SO:0001583	missense	376940	exon10			TCATCATACCAGC	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1723T>C	chr2.hg19:g.113082111T>C	ENSP00000386764:p.Tyr575His	219.0	0.0		211.0	64.0	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	hg19	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296737	0.23650	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.14640	2.49;2.49	5.75	2.03	0.26663	.	0.559074	0.20388	N	0.093310	T	0.07369	0.0186	N	0.12961	0.28	0.22541	N	0.99901	B	0.15141	0.012	B	0.11329	0.006	T	0.37911	-0.9685	10	0.21014	T	0.42	-1.6765	9.8002	0.40759	0.0:0.1229:0.0:0.8771	.	575	P61129	ZC3H6_HUMAN	H	575;575;552	ENSP00000386764:Y575H;ENSP00000340298:Y575H	ENSP00000340298:Y575H	Y	+	1	0	ZC3H6	112798582	0.991000	0.36638	0.158000	0.22627	0.997000	0.91878	2.456000	0.44997	0.555000	0.29079	0.482000	0.46254	TAC	.	.		0.458	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
DNAH7	56171	hgsc.bcm.edu	37	2	196636524	196636524	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:196636524C>T	ENST00000312428.6	-	61	11393	c.11293G>A	c.(11293-11295)Gac>Aac	p.D3765N	DNAH7_ENST00000409063.1_Missense_Mutation_p.D248N	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3765					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCTCGATGTCGAAGTTGTTT	0.453																																					p.D3765N		Atlas-SNP	.											DNAH7,colon,carcinoma,0,1	DNAH7	512	.	0			c.G11293A						.						267.0	247.0	254.0					2																	196636524		2017	4165	6182	SO:0001583	missense	56171	exon61			CGATGTCGAAGTT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11293G>A	chr2.hg19:g.196636524C>T	ENSP00000311273:p.Asp3765Asn	141.0	0.0		136.0	39.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970047	0.53614	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.08720	3.06;3.06	5.08	4.19	0.49359	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	P	0.55923	0.787	T	0.10870	-1.0611	10	0.25106	T	0.35	.	10.154	0.42812	0.0:0.7873:0.1366:0.0761	.	3765	Q8WXX0	DYH7_HUMAN	N	3765;248	ENSP00000311273:D3765N;ENSP00000386912:D248N	ENSP00000311273:D3765N	D	-	1	0	DNAH7	196344769	1.000000	0.71417	0.861000	0.33841	0.360000	0.29518	1.993000	0.40747	1.352000	0.45808	0.655000	0.94253	GAC	.	.		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	hgsc.bcm.edu	37	2	196912120	196912120	+	Missense_Mutation	SNP	A	A	T	rs372676468		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:196912120A>T	ENST00000312428.6	-	5	454	c.354T>A	c.(352-354)caT>caA	p.H118Q	DNAH7_ENST00000410072.1_Missense_Mutation_p.H118Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	118	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCGTTCTTTATGTGGAGATT	0.383																																					p.H118Q		Atlas-SNP	.											.	DNAH7	512	.	0			c.T354A						.						177.0	172.0	174.0					2																	196912120		1835	4079	5914	SO:0001583	missense	56171	exon5			TTCTTTATGTGGA	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.354T>A	chr2.hg19:g.196912120A>T	ENSP00000311273:p.His118Gln	132.0	0.0		104.0	33.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	6.070	0.381236	0.11466	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.21031	2.03;2.92	5.2	-0.0772	0.13720	.	0.801655	0.11396	N	0.568365	T	0.09069	0.0224	N	0.08118	0	0.22240	N	0.999265	B	0.06786	0.001	B	0.04013	0.001	T	0.40136	-0.9579	10	0.18276	T	0.48	.	7.6939	0.28583	0.5473:0.0:0.4527:0.0	.	118	Q8WXX0	DYH7_HUMAN	Q	118;118;118;93	ENSP00000311273:H118Q;ENSP00000386260:H118Q	ENSP00000311273:H118Q	H	-	3	2	DNAH7	196620365	0.432000	0.25554	0.933000	0.37362	0.120000	0.20174	-0.487000	0.06505	-0.156000	0.11079	-0.353000	0.07706	CAT	.	.		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
GMPPA	29926	hgsc.bcm.edu	37	2	220370997	220370997	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:220370997A>T	ENST00000358215.3	+	12	1384	c.1015A>T	c.(1015-1017)Agc>Tgc	p.S339C	GMPPA_ENST00000373917.3_Missense_Mutation_p.S392C|GMPPA_ENST00000373908.1_Missense_Mutation_p.S339C|GMPPA_ENST00000313597.5_Missense_Mutation_p.S339C|GMPPA_ENST00000341142.3_Missense_Mutation_p.S339C|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	339				S -> C (in Ref. 1; AAD38517). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGTTCTGCATAGCATCGTGGG	0.637																																					p.S339C		Atlas-SNP	.											.	GMPPA	50	.	0			c.A1015T						.						85.0	82.0	83.0					2																	220370997		2203	4300	6503	SO:0001583	missense	29926	exon12			CTGCATAGCATCG	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1015A>T	chr2.hg19:g.220370997A>T	ENSP00000350949:p.Ser339Cys	66.0	0.0		46.0	11.0	NM_205847	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	hg19	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987926	0.74589	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45	4.48	4.48	0.54585	.	0.199434	0.51477	D	0.000096	D	0.93000	0.7772	L	0.54863	1.705	0.58432	D	0.999999	B;P	0.40107	0.397;0.703	B;B	0.42827	0.399;0.369	D	0.92386	0.5917	10	0.42905	T	0.14	-8.7512	13.4827	0.61345	1.0:0.0:0.0:0.0	.	392;339	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	C	339;392;339;339;339	ENSP00000315925:S339C;ENSP00000363027:S392C;ENSP00000350949:S339C;ENSP00000363016:S339C;ENSP00000340760:S339C	ENSP00000315925:S339C	S	+	1	0	GMPPA	220079241	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.890000	0.69774	1.656000	0.50722	0.451000	0.29950	AGC	.	.		0.637	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335	
SLC4A3	6508	hgsc.bcm.edu	37	2	220500393	220500393	+	Splice_Site	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:220500393A>T	ENST00000358055.3	+	14	2484		c.e14-1		SLC4A3_ENST00000373762.3_Splice_Site|SLC4A3_ENST00000273063.6_Splice_Site|SLC4A3_ENST00000317151.3_Splice_Site|SLC4A3_ENST00000373760.2_Splice_Site			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTTCCCCCAGAACTGTCTT	0.637																																					.		Atlas-SNP	.											.	SLC4A3	144	.	0			c.1973-2A>T						.						19.0	21.0	20.0					2																	220500393		2202	4298	6500	SO:0001630	splice_region_variant	6508	exon14			TCCCCCAGAACTG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1973-1A>T	chr2.hg19:g.220500393A>T		90.0	0.0		63.0	20.0	NM_005070	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Splice_Site	SNP	ENST00000358055.3	hg19	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078226	0.36662	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0188	0.36186	0.8356:0.0:0.0:0.1644	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A3	220208637	0.164000	0.22935	0.998000	0.56505	0.469000	0.32828	1.646000	0.37249	1.838000	0.53458	0.523000	0.50628	.	.	.		0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	Intron
ECEL1	9427	hgsc.bcm.edu	37	2	233346334	233346334	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr2:233346334T>A	ENST00000304546.1	-	14	2081	c.1871A>T	c.(1870-1872)cAg>cTg	p.Q624L	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q622L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	624					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCGGTCATACTGGCCCCCTGT	0.647																																					p.Q624L		Atlas-SNP	.											.	ECEL1	73	.	0			c.A1871T						.						53.0	52.0	52.0					2																	233346334		2203	4300	6503	SO:0001583	missense	9427	exon14			TCATACTGGCCCC	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1871A>T	chr2.hg19:g.233346334T>A	ENSP00000302051:p.Gln624Leu	60.0	0.0		50.0	15.0	NM_004826	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	hg19	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165497	0.57476	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.91237	-2.81;-2.81;-2.81	5.48	4.29	0.51040	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.057579	0.64402	N	0.000001	D	0.87313	0.6146	L	0.27975	0.815	0.58432	D	0.999998	B;P	0.36354	0.098;0.549	B;B	0.43623	0.019;0.425	D	0.86992	0.2111	10	0.87932	D	0	-10.3714	12.7306	0.57195	0.0:0.0:0.1374:0.8626	.	622;624	O95672-2;O95672	.;ECEL1_HUMAN	L	39;624;622	ENSP00000412683:Q39L;ENSP00000302051:Q624L;ENSP00000386333:Q622L	ENSP00000302051:Q624L	Q	-	2	0	ECEL1	233054578	1.000000	0.71417	0.984000	0.44739	0.965000	0.64279	6.240000	0.72363	0.988000	0.38734	0.456000	0.33151	CAG	.	.		0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826	
FANCD2OS	115795	hgsc.bcm.edu	37	3	10145989	10145989	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr3:10145989C>A	ENST00000450660.2	-	2	686	c.470G>T	c.(469-471)cGc>cTc	p.R157L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.R157L	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	157								p.R157H(1)									GAGGATAGAGCGCAGCATCTG	0.473																																					p.R157L		Atlas-SNP	.											C3orf24,NS,carcinoma,0,1	.	.	.	1	Substitution - Missense(1)	endometrium(1)	c.G470T						.						126.0	114.0	118.0					3																	10145989		2203	4300	6503	SO:0001583	missense	115795	exon2			ATAGAGCGCAGCA	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.470G>T	chr3.hg19:g.10145989C>A	ENSP00000429608:p.Arg157Leu	73.0	0.0		80.0	4.0	NM_001164839		Missense_Mutation	SNP	ENST00000450660.2	hg19	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398215	0.83120	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.47040	0.1424	L	0.29908	0.895	0.49798	D	0.999828	B	0.29862	0.259	B	0.20384	0.029	T	0.49735	-0.8908	9	0.87932	D	0	.	16.9439	0.86225	0.0:1.0:0.0:0.0	.	157	Q96PS1	CC024_HUMAN	L	157	.	ENSP00000429608:R157L	R	-	2	0	C3orf24	10120989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.683000	0.61679	2.608000	0.88229	0.650000	0.86243	CGC	.	.		0.473	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472	
CAND2	23066	hgsc.bcm.edu	37	3	12857490	12857490	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr3:12857490T>C	ENST00000456430.2	+	9	1465	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T	CAND2_ENST00000295989.5_Missense_Mutation_p.M382T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	475					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCGAGCATATGCCTGTGCTG	0.627																																					p.M475T	GBM(43;676 868 1633 6395 37496)	Atlas-SNP	.											.	CAND2	138	.	0			c.T1424C						.						58.0	63.0	61.0					3																	12857490		2036	4187	6223	SO:0001583	missense	23066	exon9			AGCATATGCCTGT		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1424T>C	chr3.hg19:g.12857490T>C	ENSP00000387641:p.Met475Thr	154.0	0.0		164.0	11.0	NM_001162499	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	hg19	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	T	9.993	1.231341	0.22626	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64260	-0.09;-0.09	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.106956	0.64402	D	0.000013	T	0.53029	0.1771	L	0.38175	1.15	0.80722	D	1	B;B	0.29378	0.243;0.119	B;B	0.30716	0.119;0.069	T	0.54016	-0.8356	10	0.45353	T	0.12	-39.4142	12.9041	0.58141	0.0:0.0:0.0:1.0	.	475;382	O75155;O75155-2	CAND2_HUMAN;.	T	382;475	ENSP00000295989:M382T;ENSP00000387641:M475T	ENSP00000295989:M382T	M	+	2	0	CAND2	12832490	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	6.202000	0.72131	1.941000	0.56285	0.459000	0.35465	ATG	.	.		0.627	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
ZCWPW2	152098	hgsc.bcm.edu	37	3	28476731	28476731	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr3:28476731T>A	ENST00000383768.2	+	4	651	c.463T>A	c.(463-465)Ttc>Atc	p.F155I	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.F155I			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	155	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAAGGCAACATTCGTTGGACA	0.328																																					p.F155I		Atlas-SNP	.											.	ZCWPW2	49	.	0			c.T463A						.						105.0	109.0	108.0					3																	28476731		2203	4300	6503	SO:0001583	missense	152098	exon3			GCAACATTCGTTG	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.463T>A	chr3.hg19:g.28476731T>A	ENSP00000373278:p.Phe155Ile	378.0	0.0		429.0	162.0	NM_001040432		Missense_Mutation	SNP	ENST00000383768.2	hg19	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.60|13.60	2.284127|2.284127	0.40394|0.40394	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000428875;ENST00000419130	T;T|.	0.70631|.	-0.5;-0.5|.	6.06|6.06	3.47|3.47	0.39725|0.39725	PWWP (1);|.	0.310063|.	0.28653|.	N|.	0.014596|.	T|T	0.45935|0.45935	0.1367|0.1367	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	0.999994|0.999994	P|.	0.51147|.	0.942|.	P|.	0.49999|.	0.628|.	T|T	0.29822|0.29822	-0.9999|-0.9999	10|5	0.22706|.	T|.	0.39|.	-16.9379|-16.9379	8.8751|8.8751	0.35340|0.35340	0.2372:0.0:0.0:0.7628|0.2372:0.0:0.0:0.7628	.|.	155|.	Q504Y3|.	ZCPW2_HUMAN|.	I|N	155|138;6	ENSP00000373278:F155I;ENSP00000412386:F155I|.	ENSP00000373278:F155I|.	F|I	+|+	1|2	0|0	ZCWPW2|ZCWPW2	28451735|28451735	0.744000|0.744000	0.28250|0.28250	0.901000|0.901000	0.35422|0.35422	0.649000|0.649000	0.38597|0.38597	0.534000|0.534000	0.23098|0.23098	2.322000|2.322000	0.78497|0.78497	0.528000|0.528000	0.53228|0.53228	TTC|ATT	.	.		0.328	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384	
EPM2AIP1	9852	hgsc.bcm.edu	37	3	37033938	37033938	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr3:37033938T>C	ENST00000322716.5	-	1	857	c.631A>G	c.(631-633)Ata>Gta	p.I211V	MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	211					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						AGGTTGATTATGGTCAGAAGA	0.517																																					p.I211V		Atlas-SNP	.											.	EPM2AIP1	47	.	0			c.A631G						.						81.0	83.0	82.0					3																	37033938		2011	4178	6189	SO:0001583	missense	9852	exon1			TGATTATGGTCAG	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.631A>G	chr3.hg19:g.37033938T>C	ENSP00000406027:p.Ile211Val	96.0	0.0		146.0	59.0	NM_014805	O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	hg19	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421105	0.25639	.	.	ENSG00000178567	ENST00000322716	T	0.12361	2.69	5.09	1.31	0.21738	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.26550	N	0.973932	B	0.06786	0.001	B	0.06405	0.002	T	0.43048	-0.9415	9	0.02654	T	1	-4.925	3.3868	0.07274	0.0:0.2789:0.2028:0.5183	.	211	Q7L775	EPMIP_HUMAN	V	211	ENSP00000406027:I211V	ENSP00000406027:I211V	I	-	1	0	EPM2AIP1	37008942	0.956000	0.32656	0.919000	0.36401	0.673000	0.39480	-0.099000	0.11007	0.389000	0.25086	0.455000	0.32223	ATA	.	.		0.517	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805	
ACAD9	28976	hgsc.bcm.edu	37	3	128621398	128621398	+	Silent	SNP	G	G	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr3:128621398G>C	ENST00000308982.7	+	9	966	c.885G>C	c.(883-885)gtG>gtC	p.V295V	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	295						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCTGCAGGTGGCCATGAACA	0.602																																					p.V295V		Atlas-SNP	.											.	ACAD9	51	.	0			c.G885C						.						99.0	95.0	97.0					3																	128621398		2203	4300	6503	SO:0001819	synonymous_variant	28976	exon9			GCAGGTGGCCATG	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.885G>C	chr3.hg19:g.128621398G>C		104.0	0.0		122.0	34.0	NM_014049	D3DNB8|Q8WXX3	Silent	SNP	ENST00000308982.7	hg19	CCDS3053.1																																																																																			.	.		0.602	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049	
CHRD	8646	hgsc.bcm.edu	37	3	184101425	184101425	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr3:184101425C>T	ENST00000204604.1	+	12	1681	c.1435C>T	c.(1435-1437)Cac>Tac	p.H479Y	CHRD_ENST00000545352.1_Missense_Mutation_p.H109Y|CHRD_ENST00000348986.3_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.H479Y	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	479	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCAGGAGGACACACGGTGAG	0.607																																					p.H479Y		Atlas-SNP	.											.	CHRD	149	.	0			c.C1435T						.						60.0	50.0	54.0					3																	184101425		2203	4300	6503	SO:0001583	missense	8646	exon12			GGAGGACACACGG	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1435C>T	chr3.hg19:g.184101425C>T	ENSP00000204604:p.His479Tyr	112.0	0.0		95.0	38.0	NM_003741	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	hg19	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	0.946	-0.708073	0.03230	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000545352;ENST00000342610	T;T;T	0.42513	0.97;0.97;0.97	4.27	3.39	0.38822	CHRD (3);	0.712995	0.13515	N	0.382185	T	0.25680	0.0625	N	0.14661	0.345	0.23559	N	0.997414	B;B;B	0.20550	0.004;0.016;0.046	B;B;B	0.20384	0.009;0.029;0.029	T	0.19647	-1.0299	10	0.66056	D	0.02	-2.4332	7.4132	0.27029	0.0:0.7936:0.0:0.2064	.	109;479;479	B7Z6F4;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	Y	479;479;109;192	ENSP00000204604:H479Y;ENSP00000408972:H479Y;ENSP00000442948:H109Y	ENSP00000204604:H479Y	H	+	1	0	CHRD	185584119	0.950000	0.32346	0.703000	0.30354	0.097000	0.18754	0.104000	0.15313	0.904000	0.36572	0.313000	0.20887	CAC	.	.		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
HTT	3064	hgsc.bcm.edu	37	4	3131687	3131687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr4:3131687C>T	ENST00000355072.5	+	13	1925	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	594					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTGGGCCTGCAGATTGGACA	0.512																																					p.Q594X		Atlas-SNP	.											.	HTT	221	.	0			c.C1780T						.						95.0	92.0	93.0					4																	3131687		1899	4137	6036	SO:0001587	stop_gained	3064	exon13			GGCCTGCAGATTG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1780C>T	chr4.hg19:g.3131687C>T	ENSP00000347184:p.Gln594*	103.0	0.0		80.0	41.0	NM_002111	Q9UQB7	Nonsense_Mutation	SNP	ENST00000355072.5	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	40	8.340561	0.98767	.	.	ENSG00000197386	ENST00000355072	.	.	.	4.5	4.5	0.54988	.	0.056009	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	17.5696	0.87931	0.0:1.0:0.0:0.0	.	.	.	.	X	594	.	ENSP00000347184:Q594X	Q	+	1	0	HTT	3101485	1.000000	0.71417	0.386000	0.26170	0.266000	0.26442	6.585000	0.74062	2.224000	0.72417	0.561000	0.74099	CAG	.	.		0.512	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
NKX3-2	579	hgsc.bcm.edu	37	4	13544068	13544068	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr4:13544068C>A	ENST00000382438.5	-	2	1186	c.551G>T	c.(550-552)gGg>gTg	p.G184V		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	184	Poly-Gly.				determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						gctgccgcccccgccgccggc	0.771																																					p.G184V		Atlas-SNP	.											.	NKX3-2	15	.	0			c.G551T						.						4.0	5.0	5.0					4																	13544068		1294	2994	4288	SO:0001583	missense	579	exon2			CCGCCCCCGCCGC	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.551G>T	chr4.hg19:g.13544068C>A	ENSP00000371875:p.Gly184Val	812.0	2.0		498.0	313.0	NM_001189	Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	hg19	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739871	0.69304	.	.	ENSG00000109705	ENST00000382438	D	0.92397	-3.03	4.43	2.54	0.30619	.	0.593374	0.14127	N	0.339626	T	0.81725	0.4883	N	0.14661	0.345	0.09310	N	0.999999	B	0.26512	0.151	B	0.29716	0.106	T	0.67669	-0.5611	10	0.13108	T	0.6	.	6.8785	0.24160	0.0:0.7143:0.1815:0.1042	.	184	P78367	NKX32_HUMAN	V	184	ENSP00000371875:G184V	ENSP00000371875:G184V	G	-	2	0	NKX3-2	13153166	0.002000	0.14202	0.240000	0.24138	0.169000	0.22640	0.675000	0.25232	2.200000	0.70718	0.561000	0.74099	GGG	.	.		0.771	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3		
FAM172A	83989	hgsc.bcm.edu	37	5	93294536	93294536	+	Silent	SNP	T	T	A	rs375944243		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr5:93294536T>A	ENST00000395965.3	-	6	655	c.513A>T	c.(511-513)atA>atT	p.I171I	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Silent_p.I125I|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000504768.2_5'UTR	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	171						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						GATCTTCATTTATAATAAGTC	0.388																																					p.I171I		Atlas-SNP	.											.	FAM172A	38	.	0			c.A513T						.						129.0	127.0	127.0					5																	93294536		2203	4300	6503	SO:0001819	synonymous_variant	83989	exon6			TTCATTTATAATA		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.513A>T	chr5.hg19:g.93294536T>A		202.0	0.0		251.0	92.0	NM_032042	B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Silent	SNP	ENST00000395965.3	hg19	CCDS4069.1																																																																																			.	.		0.388	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042	
PPIP5K2	23262	hgsc.bcm.edu	37	5	102515808	102515808	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr5:102515808G>C	ENST00000358359.3	+	24	3350	c.2841G>C	c.(2839-2841)ttG>ttC	p.L947F	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L947F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.L947F	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	947					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGTGATATTGTTTAAACCAA	0.363																																					p.L947F		Atlas-SNP	.											.	PPIP5K2	98	.	0			c.G2841C						.						101.0	98.0	99.0					5																	102515808		2203	4299	6502	SO:0001583	missense	23262	exon23			GATATTGTTTAAA	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2841G>C	chr5.hg19:g.102515808G>C	ENSP00000351126:p.Leu947Phe	164.0	0.0		193.0	8.0	NM_015216	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	hg19		.	.	.	.	.	.	.	.	.	.	G	13.51	2.259784	0.39995	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.24908	2.44;2.44;2.44;1.83	5.98	0.299	0.15771	.	0.254773	0.31123	N	0.008214	T	0.16085	0.0387	L	0.29908	0.895	0.32040	N	0.598291	P;P;B	0.37158	0.585;0.488;0.245	B;B;B	0.38378	0.211;0.272;0.092	T	0.12682	-1.0538	10	0.54805	T	0.06	.	5.7754	0.18277	0.3164:0.0:0.5098:0.1738	.	962;947;947	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	F	947;947;962;947;221	ENSP00000313070:L947F;ENSP00000351126:L947F;ENSP00000416016:L947F;ENSP00000424948:L221F	ENSP00000313070:L947F	L	+	3	2	PPIP5K2	102543707	0.995000	0.38212	0.787000	0.31911	0.991000	0.79684	0.315000	0.19451	0.100000	0.17581	0.591000	0.81541	TTG	.	.		0.363	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	
PCDHB13	56123	hgsc.bcm.edu	37	5	140594106	140594106	+	Silent	SNP	A	A	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr5:140594106A>G	ENST00000341948.4	+	1	598	c.411A>G	c.(409-411)aaA>aaG	p.K137K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	137					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGGACAAACAAATGTTGG	0.428																																					p.K137K		Atlas-SNP	.											.	PCDHB13	142	.	0			c.A411G						.						42.0	43.0	43.0					5																	140594106		2203	4298	6501	SO:0001819	synonymous_variant	56123	exon1			GGACAAACAAATG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.411A>G	chr5.hg19:g.140594106A>G		649.0	0.0		698.0	209.0	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	hg19	CCDS4255.1																																																																																			.	.		0.428	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHGA1	56114	hgsc.bcm.edu	37	5	140712001	140712001	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr5:140712001C>A	ENST00000517417.1	+	1	1750	c.1750C>A	c.(1750-1752)Ccc>Acc	p.P584T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P584T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	584	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGCAGAGCCCGGCTACCT	0.667																																					p.P584T		Atlas-SNP	.											.	PCDHGA1	397	.	0			c.C1750A						.						58.0	70.0	66.0					5																	140712001		2202	4300	6502	SO:0001583	missense	56114	exon1			GCAGAGCCCGGCT	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1750C>A	chr5.hg19:g.140712001C>A	ENSP00000431083:p.Pro584Thr	89.0	0.0		108.0	35.0	NM_018912	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	hg19	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723413	0.30503	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.60797	0.16;0.16	3.92	3.92	0.45320	Cadherin (3);Cadherin-like (1);	0.142955	0.32204	N	0.006423	T	0.72724	0.3496	M	0.74546	2.27	0.23320	N	0.997912	D;D	0.56746	0.971;0.977	P;P	0.62560	0.844;0.904	T	0.66795	-0.5833	10	0.87932	D	0	.	15.2338	0.73413	0.0:1.0:0.0:0.0	.	584;584	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	T	584	ENSP00000431083:P584T;ENSP00000367345:P584T	ENSP00000367345:P584T	P	+	1	0	PCDHGA1	140692185	0.000000	0.05858	0.876000	0.34364	0.185000	0.23345	0.280000	0.18790	2.186000	0.69663	0.557000	0.71058	CCC	.	.		0.667	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDH12	51294	hgsc.bcm.edu	37	5	141335502	141335502	+	Missense_Mutation	SNP	G	G	A	rs370147049		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr5:141335502G>A	ENST00000231484.3	-	1	3125	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	639	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCACTGCGGATGCTGTAG	0.562																																					p.R639C		Atlas-SNP	.											.	PCDH12	133	.	0			c.C1915T						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	68.0	71.0		1915	1.5	0.0	5		71	0,8600		0,0,4300	no	missense	PCDH12	NM_016580.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	639/1185	141335502	1,13005	2203	4300	6503	SO:0001583	missense	51294	exon1			CACTGCGGATGCT	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1915C>T	chr5.hg19:g.141335502G>A	ENSP00000231484:p.Arg639Cys	72.0	0.0		67.0	25.0	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	6.237	0.411843	0.11812	2.27E-4	0.0	ENSG00000113555	ENST00000231484	T	0.52057	0.68	5.38	1.55	0.23275	Cadherin (4);Cadherin-like (1);	0.691899	0.14591	N	0.310280	T	0.46698	0.1406	M	0.73217	2.22	0.09310	N	1	D	0.59767	0.986	P	0.48901	0.594	T	0.38564	-0.9655	10	0.42905	T	0.14	.	2.1559	0.03811	0.1573:0.2769:0.4083:0.1576	.	639	Q9NPG4	PCD12_HUMAN	C	639	ENSP00000231484:R639C	ENSP00000231484:R639C	R	-	1	0	PCDH12	141315686	0.000000	0.05858	0.015000	0.15790	0.050000	0.14768	-0.159000	0.10056	0.091000	0.17302	-0.892000	0.02923	CGC	.	.		0.562	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
PPARGC1B	133522	hgsc.bcm.edu	37	5	149216515	149216515	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr5:149216515G>A	ENST00000309241.5	+	8	2529	c.2497G>A	c.(2497-2499)Gac>Aac	p.D833N	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.D769N|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.D794N|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.D833N	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	833					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CACTTGCTCTGACCACTGCCC	0.632																																					p.D833N		Atlas-SNP	.											.	PPARGC1B	74	.	0			c.G2497A						.						74.0	73.0	73.0					5																	149216515		2203	4300	6503	SO:0001583	missense	133522	exon8			TGCTCTGACCACT	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2497G>A	chr5.hg19:g.149216515G>A	ENSP00000312649:p.Asp833Asn	73.0	0.0		89.0	14.0	NM_133263	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	hg19	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957452	0.53400	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.08193	3.13;3.12;3.13;3.13	5.6	4.72	0.59763	.	0.489617	0.21568	N	0.072449	T	0.10895	0.0266	L	0.46157	1.445	0.35262	D	0.779719	P;D;P;P;D	0.56521	0.921;0.976;0.921;0.872;0.96	P;P;P;B;P	0.49140	0.601;0.6;0.601;0.396;0.497	T	0.09314	-1.0680	10	0.31617	T	0.26	-27.8118	7.6871	0.28546	0.1351:0.1978:0.667:0.0	.	812;812;794;833;833	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	N	794;833;833;769	ENSP00000353638:D794N;ENSP00000377855:D833N;ENSP00000312649:D833N;ENSP00000384403:D769N	ENSP00000312649:D833N	D	+	1	0	PPARGC1B	149196708	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	1.534000	0.36051	2.641000	0.89580	0.462000	0.41574	GAC	.	.		0.632	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263	
DOCK2	1794	hgsc.bcm.edu	37	5	169230174	169230174	+	Silent	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr5:169230174C>T	ENST00000256935.8	+	26	2747	c.2667C>T	c.(2665-2667)ctC>ctT	p.L889L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.L381L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	889					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAATTGCTCAACAGCATCT	0.488																																					p.L889L		Atlas-SNP	.											.	DOCK2	389	.	0			c.C2667T						.						147.0	123.0	131.0					5																	169230174		2203	4300	6503	SO:0001819	synonymous_variant	1794	exon26			ATTGCTCAACAGC	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2667C>T	chr5.hg19:g.169230174C>T		148.0	0.0		204.0	73.0	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	hg19	CCDS4371.1																																																																																			.	.		0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
HK3	3101	hgsc.bcm.edu	37	5	176314451	176314451	+	Splice_Site	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr5:176314451C>T	ENST00000292432.5	-	11	1692		c.e11+1			NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTCCTTACCGCTGCCGTC	0.672																																					.		Atlas-SNP	.											.	HK3	210	.	0			c.1600+1G>A						.						32.0	36.0	35.0					5																	176314451		2203	4300	6503	SO:0001630	splice_region_variant	3101	exon12			TCCTTACCGCTGC		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1600+1G>A	chr5.hg19:g.176314451C>T		75.0	0.0		75.0	30.0	NM_002115	Q8N1E7	Splice_Site	SNP	ENST00000292432.5	hg19	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337347	0.24253	.	.	ENSG00000160883	ENST00000292432	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.585	0.61926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HK3	176247057	1.000000	0.71417	0.959000	0.39883	0.037000	0.13140	5.571000	0.67404	1.936000	0.56123	0.462000	0.41574	.	.	.		0.672	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		Intron
IRF4	3662	hgsc.bcm.edu	37	6	405053	405053	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr6:405053C>A	ENST00000380956.4	+	8	1261	c.1135C>A	c.(1135-1137)Cca>Aca	p.P379T		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	379					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCGCTCCCTGCCAAGATTCCA	0.512			T	IGH@	MM																																p.P379T		Atlas-SNP	.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65	.	0			c.C1135A						.						81.0	78.0	79.0					6																	405053		2203	4300	6503	SO:0001583	missense	3662	exon8			TCCCTGCCAAGAT	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1135C>A	chr6.hg19:g.405053C>A	ENSP00000370343:p.Pro379Thr	48.0	0.0		60.0	15.0	NM_002460	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	hg19	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178474	0.78564	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.99186	-5.53	5.71	5.71	0.89125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.102956	0.64402	D	0.000002	D	0.99423	0.9796	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.99208	1.0875	10	0.87932	D	0	-15.2749	19.8773	0.96884	0.0:1.0:0.0:0.0	.	378;379	Q15306-2;Q15306	.;IRF4_HUMAN	T	379;408	ENSP00000370343:P379T	ENSP00000370343:P379T	P	+	1	0	IRF4	350053	1.000000	0.71417	0.922000	0.36590	0.862000	0.49288	4.555000	0.60767	2.686000	0.91538	0.650000	0.86243	CCA	.	.		0.512	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1		
TDP2	51567	hgsc.bcm.edu	37	6	24666984	24666984	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr6:24666984G>A	ENST00000378198.4	-	1	277	c.107C>T	c.(106-108)gCa>gTa	p.A36V	ACOT13_ENST00000537591.1_5'Flank|ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.A66V|TDP2_ENST00000341060.3_5'Flank			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	36					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ATCGCAGCTTGCGACCGAGGC	0.622								Direct reversal of damage																													p.A36V		Atlas-SNP	.											.	TDP2	29	.	0			c.C107T						.						170.0	185.0	180.0					6																	24666984		2203	4300	6503	SO:0001583	missense	51567	exon1			CAGCTTGCGACCG	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.107C>T	chr6.hg19:g.24666984G>A	ENSP00000367440:p.Ala36Val	119.0	0.0		104.0	45.0	NM_016614	B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	hg19	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129052	0.56721	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780	T;T	0.26373	1.79;1.74	5.09	3.25	0.37280	UBA-like (1);	0.361881	0.32273	N	0.006333	T	0.14098	0.0341	M	0.62723	1.935	0.09310	N	1	P;P	0.49090	0.919;0.536	B;B	0.40825	0.341;0.114	T	0.02813	-1.1107	10	0.66056	D	0.02	-19.1299	13.3712	0.60713	0.0:0.3008:0.6992:0.0	.	66;36	O95551-2;O95551	.;TYDP2_HUMAN	V	36;66;36	ENSP00000367440:A36V;ENSP00000437637:A66V	ENSP00000367440:A36V	A	-	2	0	TDP2	24774963	0.992000	0.36948	0.006000	0.13384	0.276000	0.26787	4.478000	0.60230	0.673000	0.31224	0.655000	0.94253	GCA	.	.		0.622	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1		
TINAG	27283	hgsc.bcm.edu	37	6	54214615	54214615	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr6:54214615C>T	ENST00000259782.4	+	7	1097	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	334					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AAACGGCATGCCACGAAGCCA	0.458																																					p.A334V		Atlas-SNP	.											.	TINAG	102	.	0			c.C1001T						.						152.0	138.0	143.0					6																	54214615		2203	4300	6503	SO:0001583	missense	27283	exon7			GGCATGCCACGAA	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1001C>T	chr6.hg19:g.54214615C>T	ENSP00000259782:p.Ala334Val	160.0	0.0		173.0	73.0	NM_014464	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	hg19	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993207	0.93167	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.83914	-1.78	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.078533	0.56097	D	0.000039	D	0.85379	0.5683	L	0.43554	1.36	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	D	0.85139	0.0979	10	0.51188	T	0.08	.	17.7085	0.88315	0.0:1.0:0.0:0.0	.	334	Q9UJW2	TINAG_HUMAN	V	193;334;13	ENSP00000259782:A334V	ENSP00000259782:A334V	A	+	2	0	TINAG	54322574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.209000	0.72171	2.785000	0.95823	0.591000	0.81541	GCC	.	.		0.458	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
COL19A1	1310	hgsc.bcm.edu	37	6	70733546	70733546	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr6:70733546G>T	ENST00000322773.4	+	12	1156	c.1054G>T	c.(1054-1056)Gct>Tct	p.A352S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	352	Collagen-like 2.		A -> G (in dbSNP:rs2273426).		cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGATCCAGCTCTGGCTGG	0.308																																					p.A352S		Atlas-SNP	.											.	COL19A1	232	.	0			c.G1054T						.						90.0	88.0	88.0					6																	70733546		2203	4300	6503	SO:0001583	missense	1310	exon12			GATCCAGCTCTGG		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1054G>T	chr6.hg19:g.70733546G>T	ENSP00000316030:p.Ala352Ser	122.0	0.0		104.0	28.0	NM_001858	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	hg19	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596159	0.46318	.	.	ENSG00000082293	ENST00000322773	D	0.93189	-3.18	5.5	5.5	0.81552	.	0.068567	0.64402	D	0.000018	D	0.84588	0.5505	N	0.16368	0.405	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.81061	-0.1103	10	0.87932	D	0	.	18.3978	0.90504	0.0:0.0:1.0:0.0	.	352	Q14993	COJA1_HUMAN	S	352	ENSP00000316030:A352S	ENSP00000316030:A352S	A	+	1	0	COL19A1	70790267	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.835000	0.69368	2.588000	0.87417	0.655000	0.94253	GCT	.	.		0.308	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
KLHL32	114792	hgsc.bcm.edu	37	6	97533088	97533088	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr6:97533088C>G	ENST00000369261.4	+	6	861	c.498C>G	c.(496-498)ttC>ttG	p.F166L	KLHL32_ENST00000539200.1_Missense_Mutation_p.F97L|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.F130L	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	166										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGATCGATTTCTTAGTGAAAC	0.458																																					p.F166L		Atlas-SNP	.											.	KLHL32	85	.	0			c.C498G						.						111.0	111.0	111.0					6																	97533088		2203	4300	6503	SO:0001583	missense	114792	exon6			CGATTTCTTAGTG	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.498C>G	chr6.hg19:g.97533088C>G	ENSP00000358265:p.Phe166Leu	103.0	0.0		79.0	7.0	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	hg19	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084587	0.76642	.	.	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000536676;ENST00000539200;ENST00000447886	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	6.01	5.04	0.67666	BTB/Kelch-associated (2);	0.048141	0.85682	D	0.000000	T	0.72851	0.3512	L	0.50993	1.605	0.80722	D	1	D;D;P;D	0.67145	0.996;0.992;0.941;0.977	D;D;P;P	0.76071	0.966;0.987;0.756;0.891	T	0.73332	-0.4016	10	0.51188	T	0.08	.	10.1864	0.43000	0.0:0.8274:0.0:0.1726	.	97;130;166;166	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	L	92;166;130;97;62	ENSP00000358265:F166L;ENSP00000440382:F130L;ENSP00000441527:F97L;ENSP00000389310:F62L	ENSP00000358259:F92L	F	+	3	2	KLHL32	97639809	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.950000	0.49081	2.850000	0.98022	0.655000	0.94253	TTC	.	.		0.458	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
GPRC6A	222545	hgsc.bcm.edu	37	6	117150058	117150058	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr6:117150058C>T	ENST00000310357.3	-	1	140	c.119G>A	c.(118-120)gGt>gAt	p.G40D	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G40D|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G40D	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	40					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGCAAACAAACCTCCAATTAT	0.438																																					p.G40D		Atlas-SNP	.											.	GPRC6A	152	.	0			c.G119A						.						91.0	90.0	90.0					6																	117150058		2203	4300	6503	SO:0001583	missense	222545	exon1			AACAAACCTCCAA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.119G>A	chr6.hg19:g.117150058C>T	ENSP00000309493:p.Gly40Asp	180.0	0.0		138.0	32.0	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	hg19	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068392	0.76301	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87491	-2.26;-2.26;-2.26	5.18	5.18	0.71444	.	0.071607	0.53938	D	0.000044	D	0.83188	0.5200	N	0.08118	0	0.27843	N	0.94101	D;D;D	0.89917	1.0;0.973;1.0	D;P;D	0.97110	1.0;0.71;0.991	T	0.81568	-0.0873	10	0.87932	D	0	.	17.0749	0.86583	0.0:1.0:0.0:0.0	.	40;40;40	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	D	40	ENSP00000309493:G40D;ENSP00000357537:G40D;ENSP00000433465:G40D	ENSP00000309493:G40D	G	-	2	0	GPRC6A	117256751	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	2.918000	0.48829	2.713000	0.92767	0.655000	0.94253	GGT	.	.		0.438	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
RP9	6100	hgsc.bcm.edu	37	7	33134956	33134956	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr7:33134956T>A	ENST00000297157.3	-	6	573	c.556A>T	c.(556-558)Aag>Tag	p.K186*		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	186	Lys-rich.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ttctttttcttGTGTTTCTCT	0.363																																					p.K186X		Atlas-SNP	.											.	RP9	19	.	0			c.A556T						.						29.0	31.0	31.0					7																	33134956		2199	4297	6496	SO:0001587	stop_gained	6100	exon6			TTTTCTTGTGTTT	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.556A>T	chr7.hg19:g.33134956T>A	ENSP00000297157:p.Lys186*	378.0	0.0		430.0	147.0	NM_203288		Nonsense_Mutation	SNP	ENST00000297157.3	hg19	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247961	0.59103	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	.	.	.	3.17	1.95	0.26073	.	0.606531	0.17070	N	0.188214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6438	9.5011	0.39017	0.0:0.0:0.1789:0.8211	.	.	.	.	X	186;152	.	ENSP00000297157:K186X	K	-	1	0	RP9	33101481	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.558000	0.45879	0.545000	0.28902	0.460000	0.39030	AAG	.	.		0.363	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288	
ABCA13	154664	hgsc.bcm.edu	37	7	48315128	48315128	+	Silent	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr7:48315128C>T	ENST00000435803.1	+	17	5889	c.5865C>T	c.(5863-5865)atC>atT	p.I1955I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1955					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTTGCAAATCATAGAAAAAC	0.318																																					p.I1955I		Atlas-SNP	.											.	ABCA13	1192	.	0			c.C5865T						.						64.0	63.0	63.0					7																	48315128		1818	4080	5898	SO:0001819	synonymous_variant	154664	exon17			GCAAATCATAGAA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5865C>T	chr7.hg19:g.48315128C>T		154.0	0.0		223.0	32.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	hg19	CCDS47584.1																																																																																			.	.		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
PCLO	27445	hgsc.bcm.edu	37	7	82582848	82582848	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr7:82582848G>T	ENST00000333891.9	-	5	7758	c.7421C>A	c.(7420-7422)cCt>cAt	p.P2474H	PCLO_ENST00000423517.2_Missense_Mutation_p.P2474H|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTGTAACAGGTAATCCATT	0.433																																					p.P2474H		Atlas-SNP	.											.	PCLO	1506	.	0			c.C7421A						.						126.0	125.0	125.0					7																	82582848		1954	4150	6104	SO:0001583	missense	27445	exon5			GTAACAGGTAATC	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7421C>A	chr7.hg19:g.82582848G>T	ENSP00000334319:p.Pro2474His	97.0	0.0		123.0	45.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	1.769	-0.484819	0.04352	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17370	2.28;2.28	4.52	3.56	0.40772	.	.	.	.	.	T	0.13927	0.0337	L	0.27053	0.805	0.80722	D	1	B;B	0.27498	0.18;0.18	B;B	0.29176	0.099;0.099	T	0.11251	-1.0595	9	0.87932	D	0	.	12.8149	0.57658	0.0:0.0:0.8355:0.1645	.	2474;2474	Q9Y6V0-5;Q9Y6V0-6	.;.	H	2405;2474;2474	ENSP00000334319:P2474H;ENSP00000388393:P2474H	ENSP00000334319:P2474H	P	-	2	0	PCLO	82420784	1.000000	0.71417	0.794000	0.32065	0.110000	0.19582	4.445000	0.60007	2.057000	0.61298	0.484000	0.47621	CCT	.	.		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	hgsc.bcm.edu	37	7	82764321	82764321	+	Missense_Mutation	SNP	C	C	T	rs547726879		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr7:82764321C>T	ENST00000333891.9	-	3	2882	c.2545G>A	c.(2545-2547)Gta>Ata	p.V849I	PCLO_ENST00000423517.2_Missense_Mutation_p.V849I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTTTGTACGGGGTCAACT	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18191	0.0		0.0	False		,,,				2504	0.0				p.V849I		Atlas-SNP	.											Q9Y6V0-3,colon,carcinoma,0,3	PCLO	1506	.	0			c.G2545A						.						152.0	154.0	154.0					7																	82764321		1926	4131	6057	SO:0001583	missense	27445	exon3			TTTGTACGGGGTC	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2545G>A	chr7.hg19:g.82764321C>T	ENSP00000334319:p.Val849Ile	184.0	0.0		192.0	72.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172127	0.21704	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.37;2.37	5.98	2.05	0.26809	.	.	.	.	.	T	0.12518	0.0304	L	0.31294	0.92	0.80722	D	1	B;B	0.19331	0.035;0.035	B;B	0.11329	0.006;0.006	T	0.07424	-1.0773	9	0.87932	D	0	.	9.565	0.39394	0.0:0.7049:0.0:0.2951	.	849;849	Q9Y6V0-5;Q9Y6V0-6	.;.	I	795;849;849	ENSP00000334319:V849I;ENSP00000388393:V849I	ENSP00000334319:V849I	V	-	1	0	PCLO	82602257	0.001000	0.12720	0.490000	0.27465	0.843000	0.47879	-0.414000	0.07114	0.092000	0.17331	0.655000	0.94253	GTA	.	.		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
FZD3	7976	hgsc.bcm.edu	37	8	28385158	28385158	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr8:28385158A>G	ENST00000240093.3	+	5	1359	c.881A>G	c.(880-882)tAt>tGt	p.Y294C	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.Y294C	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	294					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGATACTCTATTTTTTTACT	0.418																																					p.Y294C		Atlas-SNP	.											.,1	FZD3	65	.	0			c.A881G						.						82.0	83.0	83.0					8																	28385158		2203	4300	6503	SO:0001583	missense	7976	exon5			TACTCTATTTTTT	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.881A>G	chr8.hg19:g.28385158A>G	ENSP00000240093:p.Tyr294Cys	104.0	0.0		78.0	51.0	NM_017412	A8K615	Missense_Mutation	SNP	ENST00000240093.3	hg19	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.272938	0.59649	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.90004	-2.6;-2.6	5.0	5.0	0.66597	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96795	0.9585	10	0.87932	D	0	.	13.525	0.61591	1.0:0.0:0.0:0.0	.	294	Q9NPG1	FZD3_HUMAN	C	294	ENSP00000437489:Y294C;ENSP00000240093:Y294C	ENSP00000240093:Y294C	Y	+	2	0	FZD3	28441077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.871000	0.54225	0.460000	0.39030	TAT	.	.		0.418	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
ASH2L	9070	hgsc.bcm.edu	37	8	37978484	37978484	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr8:37978484C>T	ENST00000343823.6	+	10	1291	c.982C>T	c.(982-984)Cat>Tat	p.H328Y	ASH2L_ENST00000428278.2_Missense_Mutation_p.H234Y|RP11-90P5.4_ENST00000519081.1_RNA|ASH2L_ENST00000250635.7_Missense_Mutation_p.H234Y|RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000545394.1_Missense_Mutation_p.H189Y|ASH2L_ENST00000521652.1_Missense_Mutation_p.H234Y	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	328					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CCTTCCCCCTCATGGCTACCC	0.473											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H328Y		Atlas-SNP	.											.	ASH2L	62	.	0			c.C982T						.						148.0	138.0	142.0					8																	37978484		2203	4300	6503	SO:0001583	missense	9070	exon10			CCCCCTCATGGCT	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.982C>T	chr8.hg19:g.37978484C>T	ENSP00000340896:p.His328Tyr	103.0	0.0	874	183.0	38.0	NM_004674	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	hg19	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744954	0.49151	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.78126	-0.18;-1.15;-1.13;-1.14;-1.15	5.62	5.62	0.85841	.	0.090622	0.85682	D	0.000000	D	0.83760	0.5324	L	0.52905	1.665	0.80722	D	1	D;P	0.58620	0.983;0.596	P;B	0.56916	0.809;0.201	T	0.82802	-0.0277	10	0.44086	T	0.13	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	234;328	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	Y	328;234;189;234;234	ENSP00000340896:H328Y;ENSP00000250635:H234Y;ENSP00000443606:H189Y;ENSP00000395310:H234Y;ENSP00000430259:H234Y	ENSP00000250635:H234Y	H	+	1	0	ASH2L	38097641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.660000	0.90430	0.655000	0.94253	CAT	.	.		0.473	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	
ADAM9	8754	hgsc.bcm.edu	37	8	38913107	38913107	+	Silent	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr8:38913107A>T	ENST00000487273.2	+	14	1485	c.1407A>T	c.(1405-1407)ggA>ggT	p.G469G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	469	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TCCTTCCAGGAGGTACTTTAT	0.358																																					p.G469G		Atlas-SNP	.											.	ADAM9	66	.	0			c.A1407T						.						135.0	133.0	133.0					8																	38913107		2203	4300	6503	SO:0001819	synonymous_variant	8754	exon14			TCCAGGAGGTACT	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1407A>T	chr8.hg19:g.38913107A>T		113.0	0.0		183.0	98.0	NM_003816	B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	hg19	CCDS6112.1																																																																																			.	.		0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2		
ZFHX4	79776	hgsc.bcm.edu	37	8	77766536	77766536	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr8:77766536G>T	ENST00000521891.2	+	10	7827	c.7379G>T	c.(7378-7380)gGa>gTa	p.G2460V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2434V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2415V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2415V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACTTATCGGAAGACCTCCC	0.557										HNSCC(33;0.089)																											p.G2460V		Atlas-SNP	.											.	ZFHX4	878	.	0			c.G7379T						.						94.0	146.0	129.0					8																	77766536		2082	4222	6304	SO:0001583	missense	79776	exon10			TTATCGGAAGACC		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7379G>T	chr8.hg19:g.77766536G>T	ENSP00000430497:p.Gly2460Val	105.0	0.0		110.0	7.0	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765045	0.49574	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48522	0.81;0.86;0.83;0.82	5.23	5.23	0.72850	.	0.000000	0.43579	U	0.000552	T	0.50667	0.1629	L	0.44542	1.39	0.80722	D	1	P;D;D	0.53462	0.933;0.96;0.96	P;P;P	0.51229	0.462;0.663;0.663	T	0.30995	-0.9959	10	0.14656	T	0.56	.	18.9988	0.92824	0.0:0.0:1.0:0.0	.	2415;2415;2460	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2460;2444;2415;2415;2434	ENSP00000430497:G2460V;ENSP00000399605:G2415V;ENSP00000050961:G2415V;ENSP00000430848:G2434V	ENSP00000050961:G2415V	G	+	2	0	ZFHX4	77929091	1.000000	0.71417	0.997000	0.53966	0.260000	0.26232	3.124000	0.50461	2.721000	0.93114	0.650000	0.86243	GGA	.	.		0.557	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
CSMD3	114788	hgsc.bcm.edu	37	8	113812467	113812467	+	Missense_Mutation	SNP	G	G	T	rs201411480		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr8:113812467G>T	ENST00000297405.5	-	13	2140	c.1896C>A	c.(1894-1896)agC>agA	p.S632R	CSMD3_ENST00000455883.2_Missense_Mutation_p.S528R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S632R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S592R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	632	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCTACTCATGCTCACTATCA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.S632R		Atlas-SNP	.											.	CSMD3	2325	.	0			c.C1896A						.						145.0	127.0	133.0					8																	113812467		2203	4300	6503	SO:0001583	missense	114788	exon13			ACTCATGCTCACT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1896C>A	chr8.hg19:g.113812467G>T	ENSP00000297405:p.Ser632Arg	89.0	0.0		121.0	48.0	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930112	0.73327	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.83	3.06	0.35304	CUB (5);	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	H	0.98980	4.39	0.33767	D	0.622589	D;D;D	0.76494	0.999;0.999;0.963	D;D;P	0.91635	0.998;0.999;0.775	D	0.86510	0.1809	10	0.59425	D	0.04	.	11.6159	0.51090	0.1957:0.0:0.8043:0.0	.	528;632;592	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	592;632;528;632	ENSP00000345799:S592R;ENSP00000297405:S632R;ENSP00000412263:S528R;ENSP00000343124:S632R	ENSP00000297405:S632R	S	-	3	2	CSMD3	113881643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.400000	0.52594	0.828000	0.34709	-0.145000	0.13849	AGC	.	G|1.000;A|0.000		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
PTPN3	5774	hgsc.bcm.edu	37	9	112190926	112190926	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr9:112190926A>C	ENST00000374541.2	-	11	907	c.803T>G	c.(802-804)tTc>tGc	p.F268C	PTPN3_ENST00000262539.3_Missense_Mutation_p.F159C|PTPN3_ENST00000446349.1_Missense_Mutation_p.F137C|PTPN3_ENST00000412145.1_Missense_Mutation_p.F137C	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATGTATGAAGAACTTTTTCCT	0.388																																					p.F268C		Atlas-SNP	.											.	PTPN3	106	.	0			c.T803G						.						150.0	135.0	140.0					9																	112190926		2203	4299	6502	SO:0001583	missense	5774	exon11			ATGAAGAACTTTT		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.803T>G	chr9.hg19:g.112190926A>C	ENSP00000363667:p.Phe268Cys	79.0	0.0		44.0	32.0	NM_001145368	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	hg19	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279192	0.80692	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.43	4.29	0.51040	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94584	0.7782	10	0.87932	D	0	.	11.1579	0.48499	0.9266:0.0:0.0733:0.0	.	159;268;268	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	C	268;137;137;268;159	ENSP00000416654:F137C;ENSP00000395384:F137C;ENSP00000363667:F268C;ENSP00000262539:F159C	ENSP00000262539:F159C	F	-	2	0	PTPN3	111230747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.605000	0.82844	0.997000	0.38969	0.533000	0.62120	TTC	.	.		0.388	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
OR1J2	26740	hgsc.bcm.edu	37	9	125273731	125273731	+	Silent	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr9:125273731A>T	ENST00000335302.5	+	1	651	c.651A>T	c.(649-651)tcA>tcT	p.S217S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCCTGGTATCATATGGCTACA	0.507																																					p.S217S		Atlas-SNP	.											.	OR1J2	64	.	0			c.A651T						.						138.0	111.0	120.0					9																	125273731		2203	4300	6503	SO:0001819	synonymous_variant	26740	exon1			GGTATCATATGGC		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.651A>T	chr9.hg19:g.125273731A>T		138.0	0.0		99.0	69.0	NM_054107	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	hg19	CCDS35121.1																																																																																			.	.		0.507	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1		
ANK3	288	hgsc.bcm.edu	37	10	61833947	61833947	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr10:61833947T>A	ENST00000280772.2	-	37	6883	c.6692A>T	c.(6691-6693)aAt>aTt	p.N2231I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2231					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)	p.N2231S(1)		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						TAAAACCCGATTGTGGTCATC	0.418																																					p.N2231I		Atlas-SNP	.											ANK3,NS,carcinoma,-1,1	ANK3	703	.	1	Substitution - Missense(1)	lung(1)	c.A6692T						.						218.0	202.0	207.0					10																	61833947		2203	4300	6503	SO:0001583	missense	288	exon37			ACCCGATTGTGGT	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.6692A>T	chr10.hg19:g.61833947T>A	ENSP00000280772:p.Asn2231Ile	107.0	0.0		96.0	19.0	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	7.328	0.618382	0.14129	.	.	ENSG00000151150	ENST00000280772	T	0.63913	-0.07	6.05	-6.05	0.02172	.	0.483365	0.17261	N	0.180784	T	0.39937	0.1097	N	0.08118	0	0.47214	D	0.999357	B	0.23540	0.087	B	0.28553	0.091	T	0.06826	-1.0805	10	0.87932	D	0	.	16.1838	0.81934	0.0:0.186:0.0:0.814	.	2231	Q12955	ANK3_HUMAN	I	2231	ENSP00000280772:N2231I	ENSP00000280772:N2231I	N	-	2	0	ANK3	61503953	0.031000	0.19500	0.011000	0.14972	0.785000	0.44390	0.111000	0.15458	-1.027000	0.03325	-0.255000	0.11280	AAT	.	.		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
JMJD1C	221037	hgsc.bcm.edu	37	10	64968996	64968996	+	Splice_Site	SNP	C	C	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr10:64968996C>A	ENST00000399262.2	-	9	2913		c.e9-1		JMJD1C_ENST00000399251.1_Splice_Site|JMJD1C_ENST00000402544.1_Splice_Site|JMJD1C_ENST00000542921.1_Splice_Site	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C						blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGGGAGAATTCTATTAACAAA	0.418																																					.		Atlas-SNP	.											.	JMJD1C	347	.	0			c.2695-1G>T						.						51.0	46.0	48.0					10																	64968996		1861	4095	5956	SO:0001630	splice_region_variant	221037	exon10			AGAATTCTATTAA	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2695-1G>T	chr10.hg19:g.64968996C>A		108.0	0.0		102.0	49.0	NM_032776	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	SNP	ENST00000399262.2	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635404	0.87760	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JMJD1C	64639002	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.326000	0.65875	2.854000	0.98071	0.655000	0.94253	.	.	.		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Intron
LIPF	8513	hgsc.bcm.edu	37	10	90431671	90431671	+	Silent	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr10:90431671T>C	ENST00000238983.4	+	6	664	c.618T>C	c.(616-618)taT>taC	p.Y206Y	LIPF_ENST00000394375.3_Silent_p.Y216Y|LIPF_ENST00000608620.1_Silent_p.Y173Y|LIPF_ENST00000355843.2_Silent_p.Y183Y	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	206					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CTGTGAAGTATACAAAAAGCC	0.378																																					p.Y216Y		Atlas-SNP	.											.	LIPF	62	.	0			c.T648C						.						184.0	187.0	186.0					10																	90431671		2203	4300	6503	SO:0001819	synonymous_variant	8513	exon7			GAAGTATACAAAA	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.618T>C	chr10.hg19:g.90431671T>C		136.0	0.0		122.0	65.0	NM_001198829	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	ENST00000238983.4	hg19	CCDS7389.1																																																																																			.	.		0.378	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1		
ENTPD7	57089	hgsc.bcm.edu	37	10	101455831	101455831	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr10:101455831G>C	ENST00000370489.4	+	9	1140	c.962G>C	c.(961-963)cGg>cCg	p.R321P		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	321						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AACTTTGCCCGGCAGCGCTAC	0.453																																					p.R321P		Atlas-SNP	.											.	ENTPD7	44	.	0			c.G962C						.						109.0	102.0	105.0					10																	101455831		2203	4300	6503	SO:0001583	missense	57089	exon9			TTGCCCGGCAGCG	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.962G>C	chr10.hg19:g.101455831G>C	ENSP00000359520:p.Arg321Pro	166.0	0.0		124.0	61.0	NM_020354	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	hg19	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575504	0.86645	.	.	ENSG00000198018	ENST00000370489	T	0.12465	2.68	4.85	4.85	0.62838	.	0.066539	0.64402	D	0.000010	T	0.50939	0.1645	H	0.94658	3.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.65421	-0.6172	10	0.66056	D	0.02	-12.0459	18.5057	0.90896	0.0:0.0:1.0:0.0	.	321	Q9NQZ7	ENTP7_HUMAN	P	321	ENSP00000359520:R321P	ENSP00000359520:R321P	R	+	2	0	ENTPD7	101445821	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.601000	0.98297	2.675000	0.91044	0.655000	0.94253	CGG	.	.		0.453	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354	
CYP17A1	1586	hgsc.bcm.edu	37	10	104597106	104597106	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr10:104597106C>G	ENST00000369887.3	-	1	184	c.13G>C	c.(13-15)Gtg>Ctg	p.V5L	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	5					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AAGAGAGCCACGAGCTCCCAC	0.582																																					p.V5L		Atlas-SNP	.											.	CYP17A1	48	.	0			c.G13C						.						39.0	41.0	40.0					10																	104597106		2203	4300	6503	SO:0001583	missense	1586	exon1			GAGCCACGAGCTC	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.13G>C	chr10.hg19:g.104597106C>G	ENSP00000358903:p.Val5Leu	56.0	0.0		49.0	14.0	NM_000102	Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	hg19	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	3.576	-0.086682	0.07097	.	.	ENSG00000148795	ENST00000369887	T	0.69175	-0.38	5.27	-2.77	0.05877	.	0.725648	0.13150	N	0.409983	T	0.36690	0.0976	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32375	-0.9909	10	0.08381	T	0.77	.	9.4631	0.38796	0.2276:0.3558:0.4166:0.0	.	5	P05093	CP17A_HUMAN	L	5	ENSP00000358903:V5L	ENSP00000358903:V5L	V	-	1	0	CYP17A1	104587096	0.000000	0.05858	0.005000	0.12908	0.187000	0.23431	-2.011000	0.01452	-0.115000	0.11915	0.462000	0.41574	GTG	.	.		0.582	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102	
CHST15	51363	hgsc.bcm.edu	37	10	125798100	125798100	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr10:125798100G>A	ENST00000346248.5	-	5	1763	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	CHST15_ENST00000435907.1_Missense_Mutation_p.T374M|CHST15_ENST00000421115.1_Missense_Mutation_p.T374M	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	374					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GAAGTCCTGCGTCAGAAACGG	0.532																																					p.T374M		Atlas-SNP	.											.	CHST15	134	.	0			c.C1121T						.						127.0	99.0	109.0					10																	125798100		2203	4300	6503	SO:0001583	missense	51363	exon5			TCCTGCGTCAGAA	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1121C>T	chr10.hg19:g.125798100G>A	ENSP00000333947:p.Thr374Met	187.0	0.0		109.0	33.0	NM_014863	O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	hg19	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491531	0.26774	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.55413	0.52;0.52;0.52	5.12	2.7	0.31948	Sulfotransferase domain (1);	0.158508	0.56097	D	0.000027	T	0.32376	0.0827	N	0.08118	0	0.28764	N	0.900739	D;B	0.59357	0.985;0.375	P;B	0.46076	0.503;0.114	T	0.17379	-1.0371	10	0.49607	T	0.09	-24.7579	7.4829	0.27415	0.3052:0.0:0.6948:0.0	.	374;374	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	M	374	ENSP00000333947:T374M;ENSP00000402394:T374M;ENSP00000412477:T374M	ENSP00000333947:T374M	T	-	2	0	CHST15	125788090	1.000000	0.71417	0.997000	0.53966	0.043000	0.13939	3.006000	0.49529	0.764000	0.33197	0.561000	0.74099	ACG	.	.		0.532	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
KNDC1	85442	hgsc.bcm.edu	37	10	135012081	135012082	+	Splice_Site	DNP	GG	GG	AT			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr10:135012081_135012082GG>AT	ENST00000304613.3	+	14	2090_2091	c.2069_2070GG>AT	c.(2068-2070)aGG>aAT	p.R690N	KNDC1_ENST00000368572.2_Splice_Site_p.R690N|KNDC1_ENST00000368571.2_Splice_Site_p.R625N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	690					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCTCCCGTAGGGACCAGCCTG	0.703																																					.|p.R690S		Atlas-SNP	.											.	KNDC1	155	.	0			c.2070-1G>A|c.G2070T						.																																			SO:0001630	splice_region_variant	85442	exon14			CCCGTAGGGACCA|CCGTAGGGACCAG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	chr10.hg19:g.135012081_135012082delinsAT		231.0	0.0		187.0|186.0	107.0|102.0	NM_152643	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Splice_Site|Missense_Mutation	SNP	ENST00000304613.3	hg19	CCDS7674.1																																																																																			.	.		0.703	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Missense_Mutation
RBMXL2	27288	hgsc.bcm.edu	37	11	7110726	7110726	+	Silent	SNP	C	C	T	rs369241566	byFrequency	TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:7110726C>T	ENST00000306904.5	+	1	562	c.375C>T	c.(373-375)ggC>ggT	p.G125G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	125	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATCCCGGGGCGGGCCCGATG	0.806													C|||	22	0.00439297	0.0	0.0	5008	,	,		3255	0.0208		0.0	False		,,,				2504	0.001				p.G125G		Atlas-SNP	.											.	RBMXL2	47	.	0			c.C375T						.						1.0	1.0	1.0					11																	7110726		516	1275	1791	SO:0001819	synonymous_variant	27288	exon1			CCGGGGCGGGCCC	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.375C>T	chr11.hg19:g.7110726C>T		4.0	0.0		22.0	14.0	NM_014469	Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	hg19	CCDS7777.1																																																																																			.	.		0.806	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469	
PPFIBP2	8495	hgsc.bcm.edu	37	11	7618805	7618805	+	Silent	SNP	A	A	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:7618805A>G	ENST00000299492.4	+	5	775	c.387A>G	c.(385-387)acA>acG	p.T129T	PPFIBP2_ENST00000533792.1_5'UTR|PPFIBP2_ENST00000528883.1_Silent_p.T17T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	129					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGTCCTCACAGACCAAGTAG	0.512																																					p.T129T		Atlas-SNP	.											.	PPFIBP2	87	.	0			c.A387G						.						64.0	59.0	61.0					11																	7618805		2201	4296	6497	SO:0001819	synonymous_variant	8495	exon5			CCTCACAGACCAA	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.387A>G	chr11.hg19:g.7618805A>G		92.0	0.0		87.0	37.0	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	hg19	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406954	0.25378	.	.	ENSG00000166387	ENST00000524548	.	.	.	5.5	4.33	0.51752	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55256	-0.8169	4	.	.	.	-12.8079	7.5715	0.27911	0.6792:0.0:0.0:0.3208	.	.	.	.	R	84	.	.	Q	+	2	0	PPFIBP2	7575381	0.578000	0.26717	1.000000	0.80357	0.997000	0.91878	-0.108000	0.10857	2.102000	0.63906	0.533000	0.62120	CAG	.	.		0.512	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	
DCDC1	341019	hgsc.bcm.edu	37	11	30938526	30938526	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:30938526G>A	ENST00000597505.1	-	24	3342	c.3343C>T	c.(3343-3345)Ccc>Tcc	p.P1115S	DCDC1_ENST00000339794.5_Missense_Mutation_p.P194S|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCATACCTGGGAAGTGTGTGA	0.418																																					p.P222S		Atlas-SNP	.											.	DCDC5	137	.	0			c.C664T						.						161.0	157.0	158.0					11																	30938526		2202	4299	6501	SO:0001583	missense	100506627	exon7			ACCTGGGAAGTGT	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3343C>T	chr11.hg19:g.30938526G>A	ENSP00000472625:p.Pro1115Ser	131.0	0.0		147.0	14.0	NM_020869	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.351	1.065551	0.20067	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.27	3.01	0.34805	.	0.276992	0.25654	N	0.029186	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.15484	0.013	T	0.18555	-1.0333	9	0.19590	T	0.45	1.3571	7.6938	0.28583	0.0961:0.3156:0.5883:0.0	.	194	Q6ZRR9	DCDC5_HUMAN	S	194	.	ENSP00000341700:P194S	P	-	1	0	DCDC5	30895102	0.003000	0.15002	0.262000	0.24481	0.447000	0.32167	0.310000	0.19356	1.190000	0.43042	0.561000	0.74099	CCC	.	.		0.418	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
PATL1	219988	hgsc.bcm.edu	37	11	59423093	59423093	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:59423093C>T	ENST00000300146.9	-	8	1018	c.934G>A	c.(934-936)Gca>Aca	p.A312T		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	312	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AAGCCTGGTGCTGGGGGAAGC	0.587																																					p.A312T		Atlas-SNP	.											.	PATL1	92	.	0			c.G934A						.						57.0	60.0	59.0					11																	59423093		1982	4160	6142	SO:0001583	missense	219988	exon8			CTGGTGCTGGGGG	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.934G>A	chr11.hg19:g.59423093C>T	ENSP00000300146:p.Ala312Thr	88.0	0.0		81.0	30.0	NM_152716	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	hg19	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900898	0.52227	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.44482	0.92	4.86	3.93	0.45458	.	0.066293	0.56097	D	0.000025	T	0.21674	0.0522	N	0.08118	0	0.32355	N	0.557926	B;B	0.06786	0.001;0.001	B;B	0.12156	0.004;0.007	T	0.14282	-1.0478	10	0.15499	T	0.54	-12.3094	12.5459	0.56199	0.0:0.917:0.0:0.083	.	282;312	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	T	312;282	ENSP00000300146:A312T	ENSP00000300146:A312T	A	-	1	0	PATL1	59179669	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	1.890000	0.39728	2.398000	0.81561	0.563000	0.77884	GCA	.	.		0.587	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716	
SLC22A10	387775	hgsc.bcm.edu	37	11	63071682	63071682	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:63071682T>C	ENST00000332793.6	+	8	1390	c.1388T>C	c.(1387-1389)gTt>gCt	p.V463A	SLC22A10_ENST00000544661.1_Missense_Mutation_p.F262L|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	463						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ATCCCCACTGTTCTCAGGTAT	0.443																																					p.V463A		Atlas-SNP	.											.	SLC22A10	79	.	0			c.T1388C						.						170.0	168.0	169.0					11																	63071682		1952	4182	6134	SO:0001583	missense	387775	exon8			CCACTGTTCTCAG	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1388T>C	chr11.hg19:g.63071682T>C	ENSP00000327569:p.Val463Ala	45.0	0.0		64.0	18.0	NM_001039752	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	hg19	CCDS41661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.53|10.53	1.377226|1.377226	0.24944|0.24944	.|.	.|.	ENSG00000184999|ENSG00000184999	ENST00000544661|ENST00000332793	T|T	0.67865|0.56941	-0.29|0.43	3.05|3.05	-0.605|-0.605	0.11623|0.11623	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.277066	.|0.29558	.|N	.|0.011811	T|T	0.49253|0.49253	0.1546|0.1546	M|M	0.83692|0.83692	2.655|2.655	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.24092	0.0|0.097	B|B	0.01281|0.24974	0.0|0.057	T|T	0.50276|0.50276	-0.8847|-0.8847	9|10	0.46703|0.62326	T|D	0.11|0.03	.|.	5.5731|5.5731	0.17208|0.17208	0.0:0.4515:0.0:0.5485|0.0:0.4515:0.0:0.5485	.|.	257|463	E9PJB1|Q63ZE4	.|S22AA_HUMAN	L|A	262|463	ENSP00000445667:F262L|ENSP00000327569:V463A	ENSP00000433817:F257L|ENSP00000327569:V463A	F|V	+|+	1|2	0|0	SLC22A10|SLC22A10	62828258|62828258	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.285000|0.285000	0.18883|0.18883	0.024000|0.024000	0.15214|0.15214	0.472000|0.472000	0.43445|0.43445	TTC|GTT	.	.		0.443	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
CATSPER1	117144	hgsc.bcm.edu	37	11	65784577	65784577	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:65784577C>T	ENST00000312106.5	-	11	2407	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	757					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGCCTGGGAGCGGAACTTCTG	0.647																																					p.R757H		Atlas-SNP	.											.	CATSPER1	101	.	0			c.G2270A						.						51.0	44.0	46.0					11																	65784577		2201	4296	6497	SO:0001583	missense	117144	exon11			TGGGAGCGGAACT	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2270G>A	chr11.hg19:g.65784577C>T	ENSP00000309052:p.Arg757His	44.0	0.0		56.0	20.0	NM_053054	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981445	0.34942	.	.	ENSG00000175294	ENST00000312106	D	0.97480	-4.4	5.39	3.48	0.39840	.	0.000000	0.32769	U	0.005673	D	0.95076	0.8405	L	0.32530	0.975	0.27891	N	0.939311	D	0.67145	0.996	P	0.53689	0.732	D	0.90115	0.4195	10	0.48119	T	0.1	-21.4499	7.1435	0.25570	0.0:0.7343:0.1735:0.0922	.	757	Q8NEC5	CTSR1_HUMAN	H	757	ENSP00000309052:R757H	ENSP00000309052:R757H	R	-	2	0	CATSPER1	65541153	0.998000	0.40836	0.709000	0.30452	0.268000	0.26511	2.080000	0.41586	0.629000	0.30376	0.644000	0.83932	CGC	.	.		0.647	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	
FAT3	120114	hgsc.bcm.edu	37	11	92616054	92616054	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:92616054G>T	ENST00000298047.6	+	23	12449	c.12432G>T	c.(12430-12432)caG>caT	p.Q4144H	FAT3_ENST00000533797.1_Missense_Mutation_p.Q479H|FAT3_ENST00000409404.2_Missense_Mutation_p.Q4144H|FAT3_ENST00000525166.1_Missense_Mutation_p.Q3994H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4144					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAATATCCAGGCTGGCCACT	0.612										TCGA Ovarian(4;0.039)																											p.Q4144H		Atlas-SNP	.											.	FAT3	1822	.	0			c.G12432T						.						62.0	81.0	75.0					11																	92616054		2056	4196	6252	SO:0001583	missense	120114	exon23			TATCCAGGCTGGC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12432G>T	chr11.hg19:g.92616054G>T	ENSP00000298047:p.Gln4144His	110.0	0.0		95.0	25.0	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	G	17.57	3.422376	0.62622	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86230	-0.91;-0.91;-0.91;-2.09	5.85	2.4	0.29515	.	.	.	.	.	D	0.87637	0.6227	L	0.53249	1.67	0.80722	D	1	D;D	0.65815	0.995;0.957	P;P	0.58172	0.834;0.719	D	0.84095	0.0392	9	0.38643	T	0.18	.	7.0344	0.24985	0.225:0.1497:0.6253:0.0	.	4144;4144	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	4144;4144;3994;479	ENSP00000298047:Q4144H;ENSP00000387040:Q4144H;ENSP00000432586:Q3994H;ENSP00000436399:Q479H	ENSP00000298047:Q4144H	Q	+	3	2	FAT3	92255702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.357000	0.44125	0.757000	0.33036	0.655000	0.94253	CAG	.	.		0.612	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
HEPHL1	341208	hgsc.bcm.edu	37	11	93796813	93796813	+	Silent	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:93796813G>A	ENST00000315765.9	+	3	563	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	185	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGACCTGGGTGTACCATTCGC	0.532																																					p.V185V		Atlas-SNP	.											HEPHL1,right_upper_lobe,carcinoma,0,1	HEPHL1	144	.	0			c.G555A						.						104.0	104.0	104.0					11																	93796813		1974	4167	6141	SO:0001819	synonymous_variant	341208	exon3			CTGGGTGTACCAT	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.555G>A	chr11.hg19:g.93796813G>A		154.0	0.0		170.0	10.0	NM_001098672	Q3C1W7	Silent	SNP	ENST00000315765.9	hg19	CCDS44710.1																																																																																			.	.		0.532	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
MMP20	9313	hgsc.bcm.edu	37	11	102487623	102487623	+	Silent	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:102487623A>T	ENST00000260228.2	-	2	306	c.294T>A	c.(292-294)ccT>ccA	p.P98P	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	88					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CTCCACAGCGAGGCTTCTTGA	0.448																																					p.P98P		Atlas-SNP	.											.	MMP20	52	.	0			c.T294A						.						160.0	137.0	145.0					11																	102487623		2203	4299	6502	SO:0001819	synonymous_variant	9313	exon2			ACAGCGAGGCTTC	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.294T>A	chr11.hg19:g.102487623A>T		170.0	0.0		198.0	78.0	NM_004771	D3DUA8|Q9H3Q0	Silent	SNP	ENST00000260228.2	hg19	CCDS8318.1																																																																																			.	.		0.448	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		
DYNC2H1	79659	hgsc.bcm.edu	37	11	103091404	103091404	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:103091404T>C	ENST00000375735.2	+	57	9143	c.8999T>C	c.(8998-9000)cTt>cCt	p.L3000P	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3000P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3000	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCCGAATCACTTTCAGAAATT	0.353																																					p.L3000P		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.T8999C						.						104.0	103.0	103.0					11																	103091404		1866	4112	5978	SO:0001583	missense	79659	exon57			AATCACTTTCAGA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8999T>C	chr11.hg19:g.103091404T>C	ENSP00000364887:p.Leu3000Pro	118.0	0.0		143.0	6.0	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491429	0.84962	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.81908	-1.55;-1.55	5.99	5.99	0.97316	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.49916	U	0.000136	D	0.93032	0.7782	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94346	0.7575	10	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	3000;3000	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	P	3000	ENSP00000364887:L3000P;ENSP00000381167:L3000P	ENSP00000364887:L3000P	L	+	2	0	DYNC2H1	102596614	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	CTT	.	.		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
MSANTD4	84437	hgsc.bcm.edu	37	11	105881275	105881275	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:105881275C>T	ENST00000301919.4	-	2	1785	c.370G>A	c.(370-372)Gac>Aac	p.D124N	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	124						nucleus (GO:0005634)											TTTTGCCAGTCAAAATTTGCA	0.453																																					p.D124N		Atlas-SNP	.											.	.	.	.	0			c.G370A						.						138.0	141.0	140.0					11																	105881275		2201	4299	6500	SO:0001583	missense	84437	exon2			GCCAGTCAAAATT	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.370G>A	chr11.hg19:g.105881275C>T	ENSP00000304713:p.Asp124Asn	104.0	0.0		147.0	10.0	NM_032424	Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	hg19	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790278	0.70337	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.88	5.88	0.94601	.	0.157513	0.53938	D	0.000050	T	0.51449	0.1675	L	0.36672	1.1	0.39787	D	0.972385	B	0.31893	0.345	B	0.27170	0.077	T	0.53056	-0.8492	9	0.56958	D	0.05	-20.2628	20.2139	0.98290	0.0:1.0:0.0:0.0	.	124	Q8NCY6	K1826_HUMAN	N	124	.	ENSP00000304713:D124N	D	-	1	0	KIAA1826	105386485	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.697000	0.61782	2.782000	0.95742	0.561000	0.74099	GAC	.	.		0.453	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424	
TMEM45B	120224	hgsc.bcm.edu	37	11	129722516	129722516	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:129722516A>G	ENST00000524567.1	+	2	420	c.139A>G	c.(139-141)Atc>Gtc	p.I47V	TMEM45B_ENST00000281441.3_Missense_Mutation_p.I47V			Q96B21	TM45B_HUMAN	transmembrane protein 45B	47						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCGTCTCGAGATCGTCGAAGC	0.483																																					p.I47V		Atlas-SNP	.											.	TMEM45B	25	.	0			c.A139G						.						142.0	131.0	135.0					11																	129722516		2201	4297	6498	SO:0001583	missense	120224	exon2			CTCGAGATCGTCG	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.139A>G	chr11.hg19:g.129722516A>G	ENSP00000436293:p.Ile47Val	170.0	0.0		157.0	63.0	NM_138788	A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	hg19	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	A	7.217	0.596632	0.13875	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.29397	1.57;1.57	5.64	1.76	0.24704	.	0.466508	0.25388	N	0.031025	T	0.22742	0.0549	L	0.52905	1.665	0.27196	N	0.960285	B	0.09022	0.002	B	0.11329	0.006	T	0.21895	-1.0232	10	0.16896	T	0.51	0.1149	5.7621	0.18207	0.4164:0.4253:0.1583:0.0	.	47	Q96B21	TM45B_HUMAN	V	47	ENSP00000281441:I47V;ENSP00000436293:I47V	ENSP00000281441:I47V	I	+	1	0	TMEM45B	129227726	0.792000	0.28813	0.892000	0.35008	0.034000	0.12701	-0.134000	0.10436	0.389000	0.25086	0.533000	0.62120	ATC	.	.		0.483	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788	
C1RL	51279	hgsc.bcm.edu	37	12	7261740	7261740	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr12:7261740T>A	ENST00000266542.4	-	1	129	c.37A>T	c.(37-39)Aga>Tga	p.R13*	C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000545280.1_Nonsense_Mutation_p.R13*|C1RL_ENST00000545337.1_Nonsense_Mutation_p.R13*|C1RL-AS1_ENST00000541775.1_RNA|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000382215.3_RNA|C1RL_ENST00000544702.1_Nonsense_Mutation_p.R13*	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	13					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAGGGCTTCTCCAGAGATAT	0.602											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R13X		Atlas-SNP	.											.	C1RL	39	.	0			c.A37T						.						46.0	37.0	40.0					12																	7261740		2203	4300	6503	SO:0001587	stop_gained	51279	exon1			GGCTTCTCCAGAG	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.37A>T	chr12.hg19:g.7261740T>A	ENSP00000266542:p.Arg13*	88.0	0.0	640	73.0	25.0	NM_016546	Q53GX9	Nonsense_Mutation	SNP	ENST00000266542.4	hg19	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152291	0.57259	.	.	ENSG00000139178	ENST00000545280;ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.	.	.	3.67	-0.00687	0.14011	.	0.776606	0.11337	N	0.574428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9941	0.19483	0.0:0.3373:0.0:0.6627	.	.	.	.	X	13	.	ENSP00000266542:R13X	R	-	1	2	C1RL	7153016	0.356000	0.24930	0.867000	0.34043	0.049000	0.14656	-0.024000	0.12435	0.004000	0.14682	0.317000	0.21355	AGA	.	.		0.602	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546	
ACSM4	341392	hgsc.bcm.edu	37	12	7479610	7479610	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr12:7479610G>T	ENST00000399422.4	+	12	1623	c.1575G>T	c.(1573-1575)aaG>aaT	p.K525N		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	525					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CACCCTTTAAGTCCTACAACC	0.373																																					p.K525N		Atlas-SNP	.											.	ACSM4	98	.	0			c.G1575T						.						72.0	65.0	67.0					12																	7479610		1839	4099	5938	SO:0001583	missense	341392	exon12			CTTTAAGTCCTAC		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1575G>T	chr12.hg19:g.7479610G>T	ENSP00000382349:p.Lys525Asn	90.0	0.0		87.0	24.0	NM_001080454	A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	hg19	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	G	2.590	-0.295463	0.05532	.	.	ENSG00000215009	ENST00000399422	T	0.10763	2.84	2.55	-1.63	0.08345	.	0.390868	0.18012	U	0.154528	T	0.07413	0.0187	L	0.46670	1.46	0.33804	D	0.627097	B	0.24533	0.105	B	0.21917	0.037	T	0.24119	-1.0169	10	0.25751	T	0.34	-11.0269	4.101	0.10014	0.3618:0.2102:0.428:0.0	.	525	P0C7M7	ACSM4_HUMAN	N	525	ENSP00000382349:K525N	ENSP00000382349:K525N	K	+	3	2	ACSM4	7370877	0.001000	0.12720	0.924000	0.36721	0.878000	0.50629	-0.018000	0.12568	-0.287000	0.09064	-1.012000	0.02466	AAG	.	.		0.373	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
WIF1	11197	hgsc.bcm.edu	37	12	65471574	65471574	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr12:65471574G>T	ENST00000286574.4	-	3	723	c.349C>A	c.(349-351)Cca>Aca	p.P117T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	117	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTGACGGTTGGATCTGCCATG	0.458			T	HMGA2	pleomorphic salivary gland adenoma																																p.P117T	Esophageal Squamous(148;1595 1816 48559 49439 49664)	Atlas-SNP	.		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	.	WIF1	96	.	0			c.C349A						.						126.0	106.0	113.0					12																	65471574		2203	4300	6503	SO:0001583	missense	11197	exon3			CGGTTGGATCTGC	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.349C>A	chr12.hg19:g.65471574G>T	ENSP00000286574:p.Pro117Thr	115.0	0.0		130.0	47.0	NM_007191	Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	hg19	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403689	0.83230	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.58940	0.3;0.3	5.35	5.35	0.76521	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71431	-0.4595	9	.	.	.	.	19.4405	0.94817	0.0:0.0:1.0:0.0	.	117	Q9Y5W5	WIF1_HUMAN	T	117;55	ENSP00000286574:P117T;ENSP00000442063:P55T	.	P	-	1	0	WIF1	63757841	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	7.700000	0.84556	2.689000	0.91719	0.650000	0.86243	CCA	.	.		0.458	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		
PTPRB	5787	hgsc.bcm.edu	37	12	70986218	70986218	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr12:70986218G>T	ENST00000261266.5	-	5	999	c.970C>A	c.(970-972)Ctg>Atg	p.L324M	PTPRB_ENST00000538708.1_Missense_Mutation_p.L324M|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.L324M|PTPRB_ENST00000334414.6_Missense_Mutation_p.L542M|PTPRB_ENST00000550857.1_Missense_Mutation_p.L324M|PTPRB_ENST00000551525.1_Missense_Mutation_p.L541M|PTPRB_ENST00000550358.1_Missense_Mutation_p.L542M	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	324	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGTGAGACAGGGTGATATTG	0.418																																					p.L542M		Atlas-SNP	.											.	PTPRB	676	.	0			c.C1624A						.						71.0	65.0	67.0					12																	70986218		1853	4094	5947	SO:0001583	missense	5787	exon7			GAGACAGGGTGAT	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.970C>A	chr12.hg19:g.70986218G>T	ENSP00000261266:p.Leu324Met	165.0	0.0		140.0	49.0	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806807	0.31961	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.96	1.58	0.23477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.142736	0.47455	D	0.000231	T	0.73567	0.3603	M	0.87269	2.87	0.30963	N	0.723477	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;0.998;0.999;0.995	T	0.71381	-0.4610	10	0.52906	T	0.07	.	6.9284	0.24428	0.325:0.1225:0.5525:0.0	.	324;324;421;542;541;542;324;542	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	M	542;324;542;542;324;324;324;541;421	ENSP00000334928:L542M;ENSP00000393028:L324M;ENSP00000448058:L542M;ENSP00000438927:L324M;ENSP00000447302:L324M;ENSP00000261266:L324M;ENSP00000448349:L541M;ENSP00000446982:L421M	ENSP00000261266:L324M	L	-	1	2	PTPRB	69272485	0.996000	0.38824	0.874000	0.34290	0.084000	0.17831	0.989000	0.29629	0.422000	0.26005	0.655000	0.94253	CTG	.	.		0.418	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
SLC41A2	84102	hgsc.bcm.edu	37	12	105289099	105289099	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr12:105289099G>C	ENST00000258538.3	-	3	815	c.688C>G	c.(688-690)Ccc>Gcc	p.P230A		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	230					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTTTCAATGGGTGAATCCATC	0.353																																					p.P230A	Esophageal Squamous(195;176 2919 4272 35572)	Atlas-SNP	.											.	SLC41A2	66	.	0			c.C688G						.						143.0	129.0	134.0					12																	105289099		2203	4300	6503	SO:0001583	missense	84102	exon3			CAATGGGTGAATC	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.688C>G	chr12.hg19:g.105289099G>C	ENSP00000258538:p.Pro230Ala	89.0	0.0		85.0	5.0	NM_032148	Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	hg19	CCDS9100.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.637265|2.637265	0.47049|0.47049	.|.	.|.	ENSG00000136052|ENSG00000136052	ENST00000437220|ENST00000258538	.|T	.|0.21932	.|1.98	5.65|5.65	4.77|4.77	0.60923|0.60923	.|MgtE magnesium transporter, integral membrane (1);	.|0.182059	.|0.49305	.|D	.|0.000155	T|T	0.13586|0.13586	0.0329|0.0329	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|P	.|0.40000	.|0.698	.|B	.|0.37550	.|0.253	T|T	0.08126|0.08126	-1.0737|-1.0737	5|10	.|0.14656	.|T	.|0.56	-11.0024|-11.0024	14.5831|14.5831	0.68305|0.68305	0.0705:0.0:0.9295:0.0|0.0705:0.0:0.9295:0.0	.|.	.|230	.|Q96JW4	.|S41A2_HUMAN	Q|A	85|230	.|ENSP00000258538:P230A	.|ENSP00000258538:P230A	H|P	-|-	3|1	2|0	SLC41A2|SLC41A2	103813229|103813229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.886000|8.886000	0.92447|0.92447	1.391000|1.391000	0.46566|0.46566	0.591000|0.591000	0.81541|0.81541	CAC|CCC	.	.		0.353	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148	
PIWIL1	9271	hgsc.bcm.edu	37	12	130847644	130847644	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr12:130847644T>C	ENST00000245255.3	+	18	2422	c.2150T>C	c.(2149-2151)gTg>gCg	p.V717A		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	717	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AACTACGAAGTGCCACAGTTT	0.438																																					p.V717A		Atlas-SNP	.											.	PIWIL1	157	.	0			c.T2150C						.						111.0	110.0	111.0					12																	130847644		2203	4300	6503	SO:0001583	missense	9271	exon18			ACGAAGTGCCACA	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2150T>C	chr12.hg19:g.130847644T>C	ENSP00000245255:p.Val717Ala	142.0	0.0		151.0	7.0	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	hg19	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150177	0.57151	.	.	ENSG00000125207	ENST00000245255	T	0.37235	1.21	5.71	5.71	0.89125	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.112361	0.64402	D	0.000011	T	0.62097	0.2400	M	0.82517	2.595	0.58432	D	0.999998	P;D	0.64830	0.68;0.994	P;D	0.66847	0.562;0.947	T	0.65569	-0.6136	10	0.48119	T	0.1	-12.0576	15.1655	0.72821	0.0:0.0:0.0:1.0	.	717;717	Q96J94;Q96J94-2	PIWL1_HUMAN;.	A	717	ENSP00000245255:V717A	ENSP00000245255:V717A	V	+	2	0	PIWIL1	129413597	1.000000	0.71417	0.909000	0.35828	0.014000	0.08584	7.670000	0.83925	2.176000	0.68965	0.383000	0.25322	GTG	.	.		0.438	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
SACS	26278	hgsc.bcm.edu	37	13	23909599	23909599	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr13:23909599T>C	ENST00000382292.3	-	9	8689	c.8416A>G	c.(8416-8418)Atg>Gtg	p.M2806V	SACS_ENST00000402364.1_Missense_Mutation_p.M2056V|SACS_ENST00000382298.3_Missense_Mutation_p.M2806V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2806					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAGTATCCATAGTATAGGTT	0.348																																					p.M2806V		Atlas-SNP	.											.	SACS	871	.	0			c.A8416G						.						105.0	100.0	102.0					13																	23909599		2203	4299	6502	SO:0001583	missense	26278	exon10			TATCCATAGTATA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8416A>G	chr13.hg19:g.23909599T>C	ENSP00000371729:p.Met2806Val	44.0	0.0		44.0	24.0	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587158	0.66105	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86627	-1.95;-2.15;-1.95	5.65	3.15	0.36227	.	0.040409	0.85682	D	0.000000	T	0.74520	0.3727	N	0.15975	0.35	0.30551	N	0.76544	P	0.38565	0.637	B	0.37047	0.24	T	0.71623	-0.4537	10	0.48119	T	0.1	.	8.4391	0.32805	0.0:0.0683:0.132:0.7997	.	2806	Q9NZJ4	SACS_HUMAN	V	2806;2056;2806	ENSP00000371729:M2806V;ENSP00000385844:M2056V;ENSP00000371735:M2806V	ENSP00000371729:M2806V	M	-	1	0	SACS	22807599	1.000000	0.71417	0.961000	0.40146	0.983000	0.72400	4.849000	0.62882	0.403000	0.25479	0.454000	0.30748	ATG	.	.		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
OR4K1	79544	hgsc.bcm.edu	37	14	20404228	20404228	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr14:20404228A>T	ENST00000285600.4	+	1	462	c.403A>T	c.(403-405)Att>Ttt	p.I135F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTACAGTACAATTATGAACCG	0.438																																					p.I135F		Atlas-SNP	.											.	OR4K1	108	.	0			c.A403T						.						134.0	128.0	130.0					14																	20404228		2203	4300	6503	SO:0001583	missense	79544	exon1			AGTACAATTATGA		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.403A>T	chr14.hg19:g.20404228A>T	ENSP00000285600:p.Ile135Phe	131.0	0.0		102.0	42.0	NM_001004063	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	hg19	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.816750	0.50633	.	.	ENSG00000155249	ENST00000285600	T	0.00912	5.55	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.03564	0.0102	H	0.94264	3.515	0.42393	D	0.992539	P	0.36616	0.561	B	0.37422	0.249	T	0.00953	-1.1502	10	0.87932	D	0	.	12.5899	0.56437	1.0:0.0:0.0:0.0	.	135	Q8NGD4	OR4K1_HUMAN	F	135	ENSP00000285600:I135F	ENSP00000285600:I135F	I	+	1	0	OR4K1	19474068	0.008000	0.16893	0.918000	0.36340	0.902000	0.53008	1.011000	0.29911	2.066000	0.61787	0.533000	0.62120	ATT	.	.		0.438	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		
MAPK1IP1L	93487	hgsc.bcm.edu	37	14	55529487	55529487	+	Missense_Mutation	SNP	C	C	A	rs568012336		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr14:55529487C>A	ENST00000395468.4	+	3	347	c.170C>A	c.(169-171)gCa>gAa	p.A57E	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	57	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						CCACCAAGTGCAACACCCTCC	0.577																																					p.A57E		Atlas-SNP	.											.	MAPK1IP1L	14	.	0			c.C170A						.						87.0	74.0	79.0					14																	55529487		2203	4300	6503	SO:0001583	missense	93487	exon3			CAAGTGCAACACC	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.170C>A	chr14.hg19:g.55529487C>A	ENSP00000378851:p.Ala57Glu	136.0	0.0		108.0	5.0	NM_144578	B2RDD8|Q96BG5	Missense_Mutation	SNP	ENST00000395468.4	hg19	CCDS32085.1	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804441	0.70682	.	.	ENSG00000168175	ENST00000395468	.	.	.	5.31	5.31	0.75309	.	0.099642	0.44688	D	0.000439	T	0.52693	0.1750	N	0.19112	0.55	0.39301	D	0.964902	P	0.40731	0.728	P	0.46076	0.503	T	0.60535	-0.7244	9	0.72032	D	0.01	-11.1092	17.3476	0.87314	0.0:1.0:0.0:0.0	.	57	Q8NDC0	MISSL_HUMAN	E	57	.	ENSP00000378851:A57E	A	+	2	0	MAPK1IP1L	54599240	0.998000	0.40836	0.995000	0.50966	0.407000	0.30961	4.330000	0.59266	2.768000	0.95171	0.650000	0.86243	GCA	.	.		0.577	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2	NM_144578	
DACT1	51339	hgsc.bcm.edu	37	14	59112146	59112146	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr14:59112146T>C	ENST00000335867.4	+	4	829	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	DACT1_ENST00000395153.3_Missense_Mutation_p.Y232H|DACT1_ENST00000556859.1_5'UTR|DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000555845.1_3'UTR			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	269					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTATATCGCTATCCCAGTCC	0.488																																					p.Y269H		Atlas-SNP	.											.	DACT1	119	.	0			c.T805C						.						169.0	155.0	160.0					14																	59112146		2203	4300	6503	SO:0001583	missense	51339	exon4			TATCGCTATCCCA	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.805T>C	chr14.hg19:g.59112146T>C	ENSP00000337439:p.Tyr269His	130.0	0.0		104.0	17.0	NM_016651	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	hg19	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062036	0.76187	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.71579	-0.58;-0.58	5.71	5.71	0.89125	.	0.128441	0.53938	D	0.000047	D	0.84875	0.5569	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87035	0.2137	10	0.87932	D	0	-14.657	15.979	0.80091	0.0:0.0:0.0:1.0	.	232;269	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	H	232;269	ENSP00000378582:Y232H;ENSP00000337439:Y269H	ENSP00000337439:Y269H	Y	+	1	0	DACT1	58181899	1.000000	0.71417	0.987000	0.45799	0.843000	0.47879	7.665000	0.83852	2.182000	0.69389	0.460000	0.39030	TAT	.	.		0.488	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
BTBD7	55727	hgsc.bcm.edu	37	14	93712481	93712481	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr14:93712481A>C	ENST00000334746.5	-	10	2580	c.2273T>G	c.(2272-2274)tTg>tGg	p.L758W	BTBD7_ENST00000393170.2_Missense_Mutation_p.L332W|BTBD7_ENST00000554565.1_Missense_Mutation_p.L407W	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	758	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGAGGGGGCAAGGGTGGATG	0.542																																					p.L758W		Atlas-SNP	.											.	BTBD7	112	.	0			c.T2273G						.						130.0	133.0	132.0					14																	93712481		2203	4300	6503	SO:0001583	missense	55727	exon10			GGGGGCAAGGGTG	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2273T>G	chr14.hg19:g.93712481A>C	ENSP00000335615:p.Leu758Trp	134.0	0.0		135.0	10.0	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	hg19	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617463	0.87359	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.62639	0.38;0.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.995	T	0.73658	-0.3913	10	0.72032	D	0.01	.	16.0605	0.80836	1.0:0.0:0.0:0.0	.	332;407;758	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	W	758;407;373;332	ENSP00000335615:L758W;ENSP00000451010:L407W	ENSP00000335615:L758W	L	-	2	0	BTBD7	92782234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.690000	0.91272	2.193000	0.70182	0.528000	0.53228	TTG	.	.		0.542	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
ATP10A	57194	hgsc.bcm.edu	37	15	25959142	25959142	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr15:25959142C>G	ENST00000356865.6	-	10	2134	c.2023G>C	c.(2023-2025)Gac>Cac	p.D675H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	675					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCCAGTTGTCCGCCTGGCTG	0.692																																					p.D675H		Atlas-SNP	.											.	ATP10A	270	.	0			c.G2023C						.						24.0	26.0	25.0					15																	25959142		2199	4296	6495	SO:0001583	missense	57194	exon10			AGTTGTCCGCCTG	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2023G>C	chr15.hg19:g.25959142C>G	ENSP00000349325:p.Asp675His	51.0	0.0		50.0	16.0	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	7.682	0.689238	0.14973	.	.	ENSG00000206190	ENST00000356865	T	0.10763	2.84	3.77	2.83	0.33086	HAD-like domain (1);	1.723910	0.02350	N	0.075817	T	0.19248	0.0462	L	0.29908	0.895	0.09310	N	1	P	0.42248	0.774	P	0.53450	0.726	T	0.28004	-1.0057	10	0.48119	T	0.1	-3.2906	8.5411	0.33393	0.1612:0.525:0.3138:0.0	.	675	O60312	AT10A_HUMAN	H	675	ENSP00000349325:D675H	ENSP00000349325:D675H	D	-	1	0	ATP10A	23510235	0.002000	0.14202	0.003000	0.11579	0.038000	0.13279	1.500000	0.35682	0.911000	0.36747	0.561000	0.74099	GAC	.	.		0.692	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
CTDSPL2	51496	hgsc.bcm.edu	37	15	44783063	44783063	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr15:44783063A>T	ENST00000260327.4	+	5	1120	c.557A>T	c.(556-558)gAg>gTg	p.E186V	CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.E186V	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	186							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CAGGTGGATGAGATCACTACC	0.408																																					p.E186V		Atlas-SNP	.											.	CTDSPL2	31	.	0			c.A557T						.						159.0	147.0	151.0					15																	44783063		2198	4298	6496	SO:0001583	missense	51496	exon5			TGGATGAGATCAC	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.557A>T	chr15.hg19:g.44783063A>T	ENSP00000260327:p.Glu186Val	387.0	1.0		429.0	158.0	NM_016396	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	hg19	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671372	0.88348	.	.	ENSG00000137770	ENST00000260327	T	0.79454	-1.27	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	L	0.34521	1.04	0.80722	D	1	D	0.60575	0.988	P	0.55577	0.779	T	0.77640	-0.2512	10	0.37606	T	0.19	-8.4198	14.8259	0.70113	1.0:0.0:0.0:0.0	.	186	Q05D32	CTSL2_HUMAN	V	186	ENSP00000260327:E186V	ENSP00000260327:E186V	E	+	2	0	CTDSPL2	42570355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.007000	0.76335	1.962000	0.57031	0.459000	0.35465	GAG	.	.		0.408	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396	
CYP11A1	1583	hgsc.bcm.edu	37	15	74637456	74637456	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr15:74637456C>T	ENST00000268053.6	-	3	708	c.554G>A	c.(553-555)cGc>cAc	p.R185H	CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000358632.4_Missense_Mutation_p.R27H|CYP11A1_ENST00000419019.2_Missense_Mutation_p.R27H	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	185					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R185H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTTCTTGATGCGCCTGTGCAG	0.582																																					p.R185H	Esophageal Squamous(87;818 1337 4093 9268 37314)	Atlas-SNP	.											CYP11A1,bladder,carcinoma,-1,2	CYP11A1	54	.	1	Substitution - Missense(1)	lung(1)	c.G554A						.						88.0	84.0	85.0					15																	74637456		2197	4296	6493	SO:0001583	missense	1583	exon3			TTGATGCGCCTGT	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.554G>A	chr15.hg19:g.74637456C>T	ENSP00000268053:p.Arg185His	116.0	0.0		126.0	27.0	NM_000781	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	hg19	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668563	0.47677	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.68903	-0.36;-0.36;-0.36	4.37	4.37	0.52481	.	0.165365	0.53938	D	0.000057	T	0.60521	0.2275	M	0.78344	2.41	0.80722	D	1	P;P;P	0.41910	0.764;0.583;0.616	B;B;B	0.34991	0.193;0.11;0.065	T	0.64795	-0.6323	10	0.46703	T	0.11	-17.2513	7.0912	0.25285	0.0:0.8342:0.0:0.1658	.	185;155;185	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	H	185;27;27;97	ENSP00000268053:R185H;ENSP00000351455:R27H;ENSP00000405488:R27H	ENSP00000268053:R185H	R	-	2	0	CYP11A1	72424509	1.000000	0.71417	0.998000	0.56505	0.495000	0.33615	1.438000	0.35002	1.977000	0.57605	0.549000	0.68633	CGC	.	.		0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		
IQGAP1	8826	hgsc.bcm.edu	37	15	90977012	90977012	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr15:90977012G>C	ENST00000268182.5	+	5	576	c.452G>C	c.(451-453)tGt>tCt	p.C151S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	151	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.C151F(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTATCTACTGTATCCATGCA	0.328																																					p.C151S		Atlas-SNP	.											IQGAP1,NS,carcinoma,0,1	IQGAP1	140	.	1	Substitution - Missense(1)	lung(1)	c.G452C						.						113.0	111.0	112.0					15																	90977012		2198	4297	6495	SO:0001583	missense	8826	exon5			TCTACTGTATCCA	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.452G>C	chr15.hg19:g.90977012G>C	ENSP00000268182:p.Cys151Ser	114.0	0.0		150.0	48.0	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	hg19	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464398	0.84425	.	.	ENSG00000140575	ENST00000268182	D	0.95205	-3.64	5.28	5.28	0.74379	Calponin homology domain (5);	0.114370	0.64402	D	0.000012	D	0.97362	0.9137	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97411	1.0002	10	0.56958	D	0.05	-12.3997	18.0822	0.89444	0.0:0.0:1.0:0.0	.	151	P46940	IQGA1_HUMAN	S	151	ENSP00000268182:C151S	ENSP00000268182:C151S	C	+	2	0	IQGAP1	88778016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.491000	0.97954	2.744000	0.94065	0.655000	0.94253	TGT	.	.		0.328	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
MCTP2	55784	hgsc.bcm.edu	37	15	95001427	95001427	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr15:95001427T>C	ENST00000357742.4	+	19	2312	c.2312T>C	c.(2311-2313)gTt>gCt	p.V771A	MCTP2_ENST00000451018.3_Missense_Mutation_p.V716A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	771					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTTTCAACTGTTCAAAACGTC	0.348																																					p.V771A		Atlas-SNP	.											.	MCTP2	122	.	0			c.T2312C						.						127.0	132.0	130.0					15																	95001427		2197	4298	6495	SO:0001583	missense	55784	exon19			CAACTGTTCAAAA	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2312T>C	chr15.hg19:g.95001427T>C	ENSP00000350377:p.Val771Ala	144.0	0.0		170.0	41.0	NM_018349	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466273	0.84425	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.75704	-0.96;-0.56	4.94	4.94	0.65067	Phosphoribosyltransferase C-terminal (1);	0.063559	0.64402	D	0.000008	D	0.84629	0.5514	M	0.76433	2.335	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.66196	0.904;0.942	D	0.86947	0.2083	10	0.87932	D	0	.	14.931	0.70914	0.0:0.0:0.0:1.0	.	716;771	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	A	716;771	ENSP00000395109:V716A;ENSP00000350377:V771A	ENSP00000350377:V771A	V	+	2	0	MCTP2	92802431	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.630000	0.83225	1.976000	0.57569	0.454000	0.30748	GTT	.	.		0.348	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
PPL	5493	hgsc.bcm.edu	37	16	4937194	4937194	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr16:4937194T>A	ENST00000345988.2	-	21	2638	c.2549A>T	c.(2548-2550)tAt>tTt	p.Y850F	PPL_ENST00000590782.2_Missense_Mutation_p.Y848F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	850					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTTGATGGCATAAACTTCAGT	0.463																																					p.Y850F		Atlas-SNP	.											.	PPL	168	.	0			c.A2549T						.						164.0	166.0	165.0					16																	4937194		2197	4300	6497	SO:0001583	missense	5493	exon21			ATGGCATAAACTT	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2549A>T	chr16.hg19:g.4937194T>A	ENSP00000340510:p.Tyr850Phe	79.0	0.0		59.0	32.0	NM_002705	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	hg19	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226678	0.39300	.	.	ENSG00000118898	ENST00000345988	T	0.48201	0.82	5.41	3.16	0.36331	.	0.170917	0.49916	D	0.000128	T	0.22936	0.0554	N	0.08118	0	0.20074	N	0.999931	B	0.20550	0.046	B	0.19666	0.026	T	0.19192	-1.0313	10	0.12103	T	0.63	.	8.6546	0.34055	0.0:0.1603:0.0:0.8397	.	850	O60437	PEPL_HUMAN	F	850	ENSP00000340510:Y850F	ENSP00000340510:Y850F	Y	-	2	0	PPL	4877195	0.977000	0.34250	0.005000	0.12908	0.893000	0.52053	2.102000	0.41796	0.887000	0.36136	0.533000	0.62120	TAT	.	.		0.463	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
ACSM2A	123876	hgsc.bcm.edu	37	16	20497911	20497911	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr16:20497911A>C	ENST00000573854.1	+	14	1759	c.1645A>C	c.(1645-1647)Aac>Cac	p.N549H	ACSM2A_ENST00000219054.6_Missense_Mutation_p.N549H|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N549H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N549H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N470H|AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000536134.1_Missense_Mutation_p.N321H	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	549					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						GTTTGTCTTGAACCTGCCCAA	0.488																																					p.N549H		Atlas-SNP	.											.	ACSM2A	120	.	0			c.A1645C						.						150.0	148.0	148.0					16																	20497911		2203	4300	6503	SO:0001583	missense	123876	exon15			GTCTTGAACCTGC	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.1645A>C	chr16.hg19:g.20497911A>C	ENSP00000459451:p.Asn549His	183.0	0.0		110.0	71.0	NM_001010845	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	hg19	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	6.415	0.444769	0.12164	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	3.74	0.46	0.16684	.	1.079770	0.07321	N	0.877544	T	0.33498	0.0865	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.14578	0.011	T	0.31052	-0.9957	10	0.66056	D	0.02	-5.3894	5.0797	0.14649	0.2048:0.3202:0.475:0.0	.	549	Q08AH3	ACS2A_HUMAN	H	470;549;321;549	ENSP00000392169:N470H;ENSP00000219054:N549H;ENSP00000445082:N321H;ENSP00000379411:N549H	ENSP00000219054:N549H	N	+	1	0	ACSM2A	20405412	0.000000	0.05858	0.555000	0.28281	0.379000	0.30106	-0.009000	0.12765	0.243000	0.21327	0.254000	0.18369	AAC	.	.		0.488	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
ZNF423	23090	hgsc.bcm.edu	37	16	49660081	49660081	+	Splice_Site	SNP	C	C	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr16:49660081C>A	ENST00000561648.1	-	5	3630	c.3577G>T	c.(3577-3579)Gag>Tag	p.E1193*	ZNF423_ENST00000535559.1_Splice_Site_p.E1076*|ZNF423_ENST00000562520.1_Splice_Site_p.E1133*|ZNF423_ENST00000567169.1_Splice_Site_p.E1076*|ZNF423_ENST00000562871.1_Splice_Site_p.E1133*|ZNF423_ENST00000262383.2_Splice_Site_p.E1193*|ZNF423_ENST00000563137.2_Splice_Site_p.E1133*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1193					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTCTCTTACCAATCATGTGG	0.448																																					p.E1193X		Atlas-SNP	.											.	ZNF423	463	.	0			c.G3577T						.						268.0	239.0	248.0					16																	49660081		2199	4300	6499	SO:0001630	splice_region_variant	23090	exon5			TCTTACCAATCAT	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3577+1G>T	chr16.hg19:g.49660081C>A		124.0	0.0		62.0	43.0	NM_015069	O94860|Q76N04|Q9NZ13	Nonsense_Mutation	SNP	ENST00000561648.1	hg19	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	46	12.538145	0.99676	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	.	.	.	4.81	4.81	0.61882	.	0.221814	0.38058	N	0.001822	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.8225	18.2985	0.90155	0.0:1.0:0.0:0.0	.	.	.	.	X	1193;1076	.	.	E	-	1	0	ZNF423	48217582	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	7.439000	0.80444	2.399000	0.81585	0.306000	0.20318	GAG	.	.		0.448	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	Nonsense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	rs483352695|rs397516437		TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr17:7577545T>C	ENST00000269305.4	-	7	925	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000420246.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M246V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCCGGTTCATGCCGCCCATG	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.M246V	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,rectum,carcinoma,0,6	TP53	33396	.	67	Substitution - Missense(39)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	liver(8)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|biliary_tract(6)|lung(6)|ovary(6)|breast(5)|stomach(4)|bone(4)|upper_aerodigestive_tract(3)|urinary_tract(3)|oesophagus(3)|soft_tissue(2)|central_nervous_system(2)|pancreas(2)	c.A736G	GRCh37	CM942294	TP53	M		.						152.0	113.0	126.0					17																	7577545		2203	4300	6503	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	GGTTCATGCCGCC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.736A>G	chr17.hg19:g.7577545T>C	ENSP00000269305:p.Met246Val	123.0	0.0		68.0	39.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945888	0.73672	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	4.62	3.54	0.40534	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.87971	2.92	0.53005	D	0.999962	D;P;P;D;P;D	0.76494	0.993;0.889;0.832;0.994;0.931;0.999	D;P;B;D;D;D	0.80764	0.972;0.545;0.403;0.984;0.947;0.994	D	0.98572	1.0646	10	0.87932	D	0	-28.5667	8.419	0.32690	0.0:0.0941:0.0:0.9059	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246V;ENSP00000352610:M246V;ENSP00000269305:M246V;ENSP00000398846:M246V;ENSP00000391127:M246V;ENSP00000391478:M246V;ENSP00000425104:M114V;ENSP00000423862:M153V	ENSP00000269305:M246V	M	-	1	0	TP53	7518270	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.824000	0.86668	0.914000	0.36822	0.379000	0.24179	ATG	.	.		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
GJD3	125111	hgsc.bcm.edu	37	17	38519621	38519621	+	Silent	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr17:38519621G>A	ENST00000578689.1	-	1	446	c.447C>T	c.(445-447)acC>acT	p.T149T	GJD3_ENST00000337376.4_Silent_p.T149T|CTD-2267D19.3_ENST00000578774.1_Missense_Mutation_p.G145S	NM_152219.3	NP_689343.3	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa	149					cell communication (GO:0007154)|gap junction assembly (GO:0016264)	cell surface (GO:0009986)|connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			CGCCCAGGAAGGTCAGCTCGG	0.771																																					p.T149T		Atlas-SNP	.											.	GJD3	2	.	0			c.C447T						.						1.0	1.0	1.0					17																	38519621		905	1932	2837	SO:0001819	synonymous_variant	125111	exon1			CAGGAAGGTCAGC	AF514298	CCDS58547.1	17q21.1	2012-04-19	2007-11-06	2007-11-06	ENSG00000183153	ENSG00000183153		"""Ion channels / Gap junction proteins (connexins)"""	19147	protein-coding gene	gene with protein product	"""connexin 31.9"""	607425	"""gap junction protein, chi 1, 31.9kDa"""	GJC1		12176752	Standard	NM_152219		Approved	CX31.9, GJA11, Cx30.2	uc010cwz.3	Q8N144		ENST00000578689.1:c.447C>T	chr17.hg19:g.38519621G>A		20.0	0.0		32.0	12.0	NM_152219	Q6ZUW6	Silent	SNP	ENST00000578689.1	hg19	CCDS58547.1																																																																																			.	.		0.771	GJD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447449.1	NM_152219	
SMCHD1	23347	hgsc.bcm.edu	37	18	2762109	2762109	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr18:2762109G>A	ENST00000320876.6	+	36	4779	c.4441G>A	c.(4441-4443)Gtt>Att	p.V1481I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.V1481I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1481					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TAAGGTTATAGTTGAAGTCCT	0.363																																					p.V1481I		Atlas-SNP	.											.	SMCHD1	88	.	0			c.G4441A						.						171.0	158.0	162.0					18																	2762109		1851	4106	5957	SO:0001583	missense	23347	exon36			GTTATAGTTGAAG	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4441G>A	chr18.hg19:g.2762109G>A	ENSP00000326603:p.Val1481Ile	157.0	0.0		139.0	59.0	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	2.651	-0.282036	0.05642	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.21932	1.98;1.99	5.34	1.49	0.22878	.	0.343185	0.30999	N	0.008447	T	0.08714	0.0216	N	0.11724	0.165	0.27226	N	0.959537	B	0.02656	0.0	B	0.04013	0.001	T	0.34428	-0.9829	10	0.12103	T	0.63	-15.5249	6.4522	0.21910	0.2793:0.0:0.5896:0.1311	.	1481	A6NHR9	SMHD1_HUMAN	I	1481	ENSP00000326603:V1481I;ENSP00000261598:V1481I	ENSP00000261598:V1481I	V	+	1	0	SMCHD1	2752109	0.485000	0.25972	0.998000	0.56505	0.885000	0.51271	-0.294000	0.08309	0.621000	0.30232	0.650000	0.86243	GTT	.	.		0.363	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
RFX2	5990	hgsc.bcm.edu	37	19	6013025	6013025	+	Silent	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr19:6013025G>T	ENST00000303657.5	-	8	1020	c.871C>A	c.(871-873)Cgg>Agg	p.R291R	RFX2_ENST00000592546.1_Silent_p.R266R|RFX2_ENST00000359161.3_Silent_p.R291R|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCTGCTGCCGCATGGCCATG	0.622																																					p.R291R	Colon(38;171 817 19800 47433 48051)	Atlas-SNP	.											.	RFX2	60	.	0			c.C871A						.						103.0	103.0	103.0					19																	6013025		2203	4300	6503	SO:0001819	synonymous_variant	5990	exon8			GCTGCCGCATGGC		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.871C>A	chr19.hg19:g.6013025G>T		39.0	0.0		28.0	21.0	NM_000635	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	hg19	CCDS12157.1																																																																																			.	.		0.622	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635	
CLEC4G	339390	hgsc.bcm.edu	37	19	7795018	7795018	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr19:7795018A>T	ENST00000328853.5	-	7	582	c.514T>A	c.(514-516)Ttc>Atc	p.F172I	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	172	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GAGCCCTCGAAGGACAGCCAC	0.662																																					p.F172I	Esophageal Squamous(146;540 1807 3349 19438 30853)	Atlas-SNP	.											.	CLEC4G	18	.	0			c.T514A						.						17.0	21.0	19.0					19																	7795018		2165	4236	6401	SO:0001583	missense	339390	exon7			CCTCGAAGGACAG	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.514T>A	chr19.hg19:g.7795018A>T	ENSP00000327599:p.Phe172Ile	134.0	0.0		89.0	5.0	NM_198492		Missense_Mutation	SNP	ENST00000328853.5	hg19	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141441	0.77775	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.19394	2.15	5.52	5.52	0.82312	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.38005	N	0.001853	T	0.55481	0.1923	M	0.93375	3.41	0.40952	D	0.984555	D	0.89917	1.0	D	0.80764	0.994	T	0.67749	-0.5590	10	0.72032	D	0.01	.	12.3072	0.54908	1.0:0.0:0.0:0.0	.	172	Q6UXB4	CLC4G_HUMAN	I	172;56	ENSP00000327599:F172I	ENSP00000327599:F172I	F	-	1	0	CLEC4G	7701018	1.000000	0.71417	0.867000	0.34043	0.331000	0.28603	3.707000	0.54838	2.224000	0.72417	0.533000	0.62120	TTC	.	.		0.662	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492	
ZNF844	284391	hgsc.bcm.edu	37	19	12186502	12186502	+	Silent	SNP	A	A	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr19:12186502A>T	ENST00000439326.3	+	4	742	c.567A>T	c.(565-567)atA>atT	p.I189I	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GACACATGATAATGCACAATG	0.373																																					p.I189I		Atlas-SNP	.											.	ZNF844	69	.	0			c.A567T						.						43.0	36.0	38.0					19																	12186502		692	1591	2283	SO:0001819	synonymous_variant	284391	exon4			CATGATAATGCAC	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.567A>T	chr19.hg19:g.12186502A>T		182.0	0.0		104.0	11.0	NM_001136501	Q5JPI8	Silent	SNP	ENST00000439326.3	hg19	CCDS45985.1																																																																																			.	.		0.373	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
RYR1	6261	hgsc.bcm.edu	37	19	38979817	38979817	+	Splice_Site	SNP	G	G	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr19:38979817G>T	ENST00000359596.3	+	35	5548	c.5548G>T	c.(5548-5550)Gtg>Ttg	p.V1850L	RYR1_ENST00000355481.4_Splice_Site_p.V1850L|RYR1_ENST00000360985.3_Splice_Site_p.V1850L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1850	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGTCCTGTAGGTGATGGGCAT	0.532																																					p.V1850L		Atlas-SNP	.											.	RYR1	708	.	0			c.G5548T						.						126.0	107.0	113.0					19																	38979817		2203	4300	6503	SO:0001630	splice_region_variant	6261	exon35			CTGTAGGTGATGG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5548-1G>T	chr19.hg19:g.38979817G>T		60.0	0.0		38.0	23.0	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.682637	0.29872	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74106	-0.81;-0.81;-0.81	4.06	4.06	0.47325	.	0.088140	0.42964	U	0.000637	T	0.54919	0.1888	N	0.16201	0.385	0.50813	D	0.999898	B;B	0.33637	0.42;0.063	B;B	0.32928	0.155;0.074	T	0.54186	-0.8331	9	.	.	.	.	11.6139	0.51078	0.0:0.0:1.0:0.0	.	1850;1850	P21817-2;P21817	.;RYR1_HUMAN	L	1850	ENSP00000352608:V1850L;ENSP00000347667:V1850L;ENSP00000354254:V1850L	.	V	+	1	0	RYR1	43671657	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.040000	0.57333	2.073000	0.62155	0.552000	0.68991	GTG	.	.		0.532	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation
RYR1	6261	hgsc.bcm.edu	37	19	38995537	38995537	+	Silent	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr19:38995537T>A	ENST00000359596.3	+	51	8217	c.8217T>A	c.(8215-8217)ccT>ccA	p.P2739P	RYR1_ENST00000355481.4_Silent_p.P2739P|RYR1_ENST00000360985.3_Silent_p.P2739P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2739	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCCCCGGCCTGTGGAGACCC	0.597																																					p.P2739P		Atlas-SNP	.											.	RYR1	708	.	0			c.T8217A						.						50.0	50.0	50.0					19																	38995537		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon51			CCGGCCTGTGGAG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8217T>A	chr19.hg19:g.38995537T>A		104.0	0.0		81.0	57.0	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	hg19	CCDS33011.1																																																																																			.	.		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	hgsc.bcm.edu	37	19	39009927	39009927	+	Silent	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr19:39009927G>A	ENST00000359596.3	+	67	10092	c.10092G>A	c.(10090-10092)cgG>cgA	p.R3364R	RYR1_ENST00000355481.4_Silent_p.R3364R|RYR1_ENST00000360985.3_Silent_p.R3364R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3364					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTATCGGGCGGCTGCGCAAGA	0.677																																					p.R3364R		Atlas-SNP	.											.	RYR1	708	.	0			c.G10092A						.						45.0	43.0	43.0					19																	39009927		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon67			CGGGCGGCTGCGC	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10092G>A	chr19.hg19:g.39009927G>A		144.0	0.0		103.0	75.0	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	hg19	CCDS33011.1																																																																																			.	.		0.677	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
MKKS	8195	hgsc.bcm.edu	37	20	10393861	10393861	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr20:10393861T>C	ENST00000347364.3	-	3	1064	c.302A>G	c.(301-303)aAc>aGc	p.N101S	MKKS_ENST00000399054.2_Missense_Mutation_p.N101S	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	101					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTCAATCAGGTTGCAGCAAAG	0.393																																					p.N101S	Melanoma(79;1979 2212 6640)	Atlas-SNP	.											.	MKKS	35	.	0			c.A302G						.						120.0	110.0	113.0					20																	10393861		2203	4300	6503	SO:0001583	missense	8195	exon3			ATCAGGTTGCAGC	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.302A>G	chr20.hg19:g.10393861T>C	ENSP00000246062:p.Asn101Ser	114.0	0.0		125.0	50.0	NM_170784	A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	hg19	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	T	7.328	0.618388	0.14129	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.78481	-1.18;-1.18	6.07	3.75	0.43078	.	0.317552	0.36972	N	0.002313	T	0.66567	0.2802	L	0.42245	1.32	0.24460	N	0.994445	B	0.14012	0.009	B	0.18263	0.021	T	0.56456	-0.7976	10	0.42905	T	0.14	-31.6163	5.3612	0.16089	0.0:0.1845:0.1484:0.6671	.	101	Q9NPJ1	MKKS_HUMAN	S	101	ENSP00000246062:N101S;ENSP00000382008:N101S	ENSP00000246062:N101S	N	-	2	0	MKKS	10341861	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.005000	0.40864	0.499000	0.27970	0.477000	0.44152	AAC	.	.		0.393	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3		
MYH7B	57644	hgsc.bcm.edu	37	20	33578100	33578100	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr20:33578100C>T	ENST00000262873.7	+	20	2182	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	655	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGACGGTGTCCCAGCTGCAC	0.617																																					p.S697F		Atlas-SNP	.											.	MYH7B	145	.	0			c.C2090T						.						98.0	101.0	100.0					20																	33578100		2203	4300	6503	SO:0001583	missense	57644	exon22			CGGTGTCCCAGCT	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2090C>T	chr20.hg19:g.33578100C>T	ENSP00000262873:p.Ser697Phe	136.0	0.0		136.0	26.0	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360033	0.82353	.	.	ENSG00000078814	ENST00000262873	D	0.88509	-2.39	4.39	4.39	0.52855	Myosin head, motor domain (2);	0.000000	0.37437	N	0.002091	D	0.97096	0.9051	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	17.5203	0.87784	0.0:1.0:0.0:0.0	.	655	A7E2Y1	MYH7B_HUMAN	F	697	ENSP00000262873:S697F	ENSP00000262873:S697F	S	+	2	0	MYH7B	33041761	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.651000	0.83577	2.445000	0.82738	0.511000	0.50034	TCC	.	.		0.617	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
SALL4	57167	hgsc.bcm.edu	37	20	50406736	50406736	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr20:50406736G>C	ENST00000217086.4	-	2	2397	c.2286C>G	c.(2284-2286)gaC>gaG	p.D762E	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	762					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCGAGGATGAGTCGTTGGTCA	0.582																																					p.D762E		Atlas-SNP	.											.	SALL4	168	.	0			c.C2286G						.						83.0	66.0	72.0					20																	50406736		2203	4300	6503	SO:0001583	missense	57167	exon2			GGATGAGTCGTTG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2286C>G	chr20.hg19:g.50406736G>C	ENSP00000217086:p.Asp762Glu	111.0	0.0		140.0	38.0	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	hg19	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592760	0.28357	.	.	ENSG00000101115	ENST00000217086	T	0.10192	2.9	5.67	3.7	0.42460	.	0.000000	0.46442	D	0.000291	T	0.14442	0.0349	M	0.71036	2.16	0.80722	D	1	P	0.46706	0.883	B	0.43301	0.415	T	0.04454	-1.0950	10	0.30854	T	0.27	-43.5142	9.9426	0.41589	0.2691:0.0:0.7309:0.0	.	762	Q9UJQ4	SALL4_HUMAN	E	762	ENSP00000217086:D762E	ENSP00000217086:D762E	D	-	3	2	SALL4	49840143	0.999000	0.42202	0.981000	0.43875	0.799000	0.45148	0.530000	0.23036	1.375000	0.46248	0.655000	0.94253	GAC	.	.		0.582	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
SLC5A1	6523	hgsc.bcm.edu	37	22	32464553	32464553	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr22:32464553T>A	ENST00000266088.4	+	5	693	c.443T>A	c.(442-444)cTg>cAg	p.L148Q	SLC5A1_ENST00000543737.1_Missense_Mutation_p.L21Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	148					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CTTTCCCTTCTGTCCCTGCTG	0.577																																					p.L148Q		Atlas-SNP	.											.	SLC5A1	80	.	0			c.T443A						.						154.0	120.0	131.0					22																	32464553		2203	4300	6503	SO:0001583	missense	6523	exon5			CCCTTCTGTCCCT		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.443T>A	chr22.hg19:g.32464553T>A	ENSP00000266088:p.Leu148Gln	89.0	0.0		87.0	32.0	NM_000343	B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	hg19	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591634	0.86953	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.91686	-2.89;-2.89	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98227	1.0481	10	0.87932	D	0	.	14.2177	0.65805	0.0:0.0:0.0:1.0	.	148	P13866	SC5A1_HUMAN	Q	148;21	ENSP00000266088:L148Q;ENSP00000444898:L21Q	ENSP00000266088:L148Q	L	+	2	0	SLC5A1	30794553	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	7.574000	0.82434	2.042000	0.60477	0.455000	0.32223	CTG	.	.		0.577	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343	
CXorf36	79742	hgsc.bcm.edu	37	X	45051186	45051186	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chrX:45051186T>A	ENST00000398000.2	-	2	382	c.308A>T	c.(307-309)gAt>gTt	p.D103V	CXorf36_ENST00000477281.1_5'Flank|RP11-342D14.1_ENST00000438181.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.D103V|RP11-342D14.1_ENST00000450527.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	103						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						TTTGGAATCATCTGAGTAATT	0.483																																					p.D103V		Atlas-SNP	.											.	CXorf36	53	.	0			c.A308T						.						71.0	69.0	70.0					X																	45051186		2203	4300	6503	SO:0001583	missense	79742	exon2			GAATCATCTGAGT	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.308A>T	chrX.hg19:g.45051186T>A	ENSP00000381086:p.Asp103Val	47.0	0.0		62.0	51.0	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	hg19	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219113	0.79464	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.40225	1.29;1.04	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68712	-0.5336	10	0.87932	D	0	.	13.4411	0.61114	0.0:0.0:0.0:1.0	.	103;103	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	V	103	ENSP00000381086:D103V;ENSP00000367168:D103V	ENSP00000367168:D103V	D	-	2	0	CXorf36	44936130	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.176000	0.58269	1.891000	0.54761	0.486000	0.48141	GAT	.	.		0.483	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689	
KIAA2022	340533	hgsc.bcm.edu	37	X	73962219	73962219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chrX:73962219C>A	ENST00000055682.6	-	3	2784	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	725					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AACCTAGCTTCACTTTTAAAT	0.413																																					p.E725X		Atlas-SNP	.											.	KIAA2022	262	.	0			c.G2173T						.						77.0	75.0	75.0					X																	73962219		2202	4300	6502	SO:0001587	stop_gained	340533	exon3			TAGCTTCACTTTT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2173G>T	chrX.hg19:g.73962219C>A	ENSP00000055682:p.Glu725*	51.0	0.0		65.0	6.0	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	ENST00000055682.6	hg19	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	44	10.846814	0.99477	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	5.73	5.73	0.89815	.	0.046391	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.9809	18.9182	0.92515	0.0:1.0:0.0:0.0	.	.	.	.	X	725	.	ENSP00000055682:E725X	E	-	1	0	KIAA2022	73878944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.415000	0.81967	0.600000	0.82982	GAA	.	.		0.413	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
MAGEE2	139599	hgsc.bcm.edu	37	X	75004522	75004522	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chrX:75004522G>A	ENST00000373359.2	-	1	557	c.365C>T	c.(364-366)tCa>tTa	p.S122L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	122	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAACTGATCTGAGTACTCTCT	0.498																																					p.S122L		Atlas-SNP	.											.	MAGEE2	94	.	0			c.C365T						.						35.0	31.0	32.0					X																	75004522		2203	4300	6503	SO:0001583	missense	139599	exon1			TGATCTGAGTACT	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.365C>T	chrX.hg19:g.75004522G>A	ENSP00000362457:p.Ser122Leu	60.0	0.0		100.0	10.0	NM_138703	Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	hg19	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626081	0.46840	.	.	ENSG00000186675	ENST00000373359	T	0.05025	3.51	3.02	1.1	0.20463	.	.	.	.	.	T	0.10465	0.0256	L	0.29908	0.895	0.24936	N	0.991887	D	0.63046	0.992	P	0.60068	0.868	T	0.23726	-1.0180	9	0.62326	D	0.03	.	6.855	0.24036	0.0:0.0:0.5005:0.4995	.	122	Q8TD90	MAGE2_HUMAN	L	122	ENSP00000362457:S122L	ENSP00000362457:S122L	S	-	2	0	MAGEE2	74921247	1.000000	0.71417	0.908000	0.35775	0.708000	0.40852	1.576000	0.36504	0.148000	0.19059	0.370000	0.22315	TCA	.	.		0.498	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703	
KIAA1210	57481	hgsc.bcm.edu	37	X	118222963	118222963	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chrX:118222963T>A	ENST00000402510.2	-	11	2229	c.2230A>T	c.(2230-2232)Agt>Tgt	p.S744C		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	744										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCCAAAACACTTGCTGTAAAG	0.443																																					p.S744C		Atlas-SNP	.											.	KIAA1210	171	.	0			c.A2230T						.						37.0	36.0	36.0					X																	118222963		1905	4117	6022	SO:0001583	missense	57481	exon11			AAACACTTGCTGT	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2230A>T	chrX.hg19:g.118222963T>A	ENSP00000384670:p.Ser744Cys	96.0	0.0		93.0	12.0	NM_020721	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	hg19	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.57|13.57	2.277806|2.277806	0.40294|0.40294	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.18810	.|2.19	4.18|4.18	0.506|0.506	0.16961|0.16961	.|.	.|.	.|.	.|.	.|.	T|T	0.28300|0.28300	0.0699|0.0699	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.64776	.|0.929	T|T	0.11470|0.11470	-1.0586|-1.0586	5|9	.|0.56958	.|D	.|0.05	.|.	5.7972|5.7972	0.18394|0.18394	0.0:0.3605:0.0:0.6395|0.0:0.3605:0.0:0.6395	.|.	.|744	.|Q9ULL0	.|K1210_HUMAN	M|C	150|744	.|ENSP00000384670:S744C	.|ENSP00000384670:S744C	K|S	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118106991|118106991	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.180000|0.180000	0.16860|0.16860	-0.013000|-0.013000	0.14199|0.14199	-0.472000|-0.472000	0.04984|0.04984	AAG|AGT	.	.		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
SLITRK2	84631	hgsc.bcm.edu	37	X	144904522	144904522	+	Silent	SNP	A	A	G			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chrX:144904522A>G	ENST00000370490.1	+	1	4834	c.579A>G	c.(577-579)ctA>ctG	p.L193L	SLITRK2_ENST00000428560.2_Silent_p.L193L|SLITRK2_ENST00000413937.2_Silent_p.L193L|SLITRK2_ENST00000434188.2_Silent_p.L193L|SLITRK2_ENST00000447897.2_Silent_p.L193L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	193					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGAATAGGCTAAAAGTAATGC	0.473																																					p.L193L		Atlas-SNP	.											.	SLITRK2	221	.	0			c.A579G						.						142.0	124.0	130.0					X																	144904522		2203	4300	6503	SO:0001819	synonymous_variant	84631	exon5			TAGGCTAAAAGTA	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.579A>G	chrX.hg19:g.144904522A>G		104.0	0.0		100.0	24.0	NM_001144005	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	hg19	CCDS14680.1																																																																																			.	.		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
FANCM	57697	hgsc.bcm.edu	37	14	45650891	45650891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr14:45650891delA	ENST00000267430.5	+	16	4454	c.4369delA	c.(4369-4371)agafs	p.R1457fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.R1431fs|FANCM_ENST00000555013.1_3'UTR	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1457					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAAAAAGCGCAGATTTCCTAT	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R1456fs		Atlas-INDEL	.											.	FANCM	225	.	0			c.4368delC						.						54.0	54.0	54.0					14																	45650891		2203	4295	6498	SO:0001589	frameshift_variant	57697	exon16	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	.	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4369delA	chr14.hg19:g.45650891delA	ENSP00000267430:p.Arg1457fs	152.0	0.0		151.0	31.0	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	hg19	CCDS32070.1																																																																																			.	.		0.308	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
AHNAK	79026	hgsc.bcm.edu	37	11	62288775	62288782	+	Frame_Shift_Del	DEL	TTGGACCC	TTGGACCC	-			TCGA-DD-AACU-01A-11D-A40R-10	TCGA-DD-AACU-10A-01D-A40U-10	TTGGACCC	TTGGACCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9d326320-5639-47af-8d15-1638282ab9d8	7534c02c-55eb-4c65-97dd-31520dc6d63a	g.chr11:62288775_62288782delTTGGACCC	ENST00000378024.4	-	5	13381_13388	c.13107_13114delGGGTCCAA	c.(13105-13116)aagggtccaaagfs	p.KGPK4369fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4369					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGAACTTTGGACCCTTGAGTTTTG	0.466																																					p.4370_4372del		Atlas-INDEL	.											.	AHNAK	532	.	0			c.13108_13115del						.																																			SO:0001589	frameshift_variant	79026	exon5			.	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13107_13114delGGGTCCAA	chr11.hg19:g.62288775_62288782delTTGGACCC	ENSP00000367263:p.Lys4369fs	131.0	0.0		150.0	13.0	NM_001620	A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	hg19	CCDS31584.1																																																																																			.	.		0.466	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
