#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
DFFA	1676	hgsc.bcm.edu	37	1	10523576	10523576	+	Silent	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:10523576T>C	ENST00000377038.3	-	4	610	c.543A>G	c.(541-543)caA>caG	p.Q181Q	DFFA_ENST00000377036.2_Silent_p.Q181Q	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	181					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CTTCCTCTCTTTGGTCAAGCA	0.567																																					p.Q181Q		Atlas-SNP	.											.	DFFA	24	.	0			c.A543G						.						93.0	85.0	88.0					1																	10523576		2203	4300	6503	SO:0001819	synonymous_variant	1676	exon4			CTCTCTTTGGTCA	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.543A>G	chr1.hg19:g.10523576T>C		29.0	0.0		25.0	13.0	NM_004401	Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Silent	SNP	ENST00000377038.3	hg19	CCDS118.1																																																																																			.	.		0.567	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401	
MYCL	4610	hgsc.bcm.edu	37	1	40366890	40366890	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:40366890C>A	ENST00000372816.2	-	1	664	c.217G>T	c.(217-219)Gcg>Tcg	p.A73S	MYCL_ENST00000397332.2_Missense_Mutation_p.A103S|MYCL_ENST00000372815.1_Missense_Mutation_p.A103S|MYCL_ENST00000429311.1_Missense_Mutation_p.A73S|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	73						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CGGGATTCCGCTTCGTCTCCG	0.726																																					p.A103S		Atlas-SNP	.											.	MYCL1	36	.	0			c.G307T						.						22.0	21.0	22.0					1																	40366890		2196	4293	6489	SO:0001583	missense	4610	exon2			ATTCCGCTTCGTC		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.217G>T	chr1.hg19:g.40366890C>A	ENSP00000361903:p.Ala73Ser	157.0	0.0		82.0	21.0	NM_005376	A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	ENST00000372816.2	hg19	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	c	14.54	2.565427	0.45694	.	.	ENSG00000116990	ENST00000397332;ENST00000372816;ENST00000372815;ENST00000429311;ENST00000450953	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	4.53	2.66	0.31614	Transcription regulator Myc, N-terminal (1);	2.903690	0.00864	N	0.001942	T	0.13756	0.0333	L	0.27053	0.805	0.27567	N	0.950001	B;B	0.31548	0.328;0.062	B;B	0.34242	0.178;0.055	T	0.31052	-0.9957	10	0.09084	T	0.74	-3.8721	7.1237	0.25458	0.0:0.6942:0.1423:0.1635	.	73;73	P12524-2;P12524	.;MYCL1_HUMAN	S	103;73;103;73;73	ENSP00000380494:A103S;ENSP00000361903:A73S;ENSP00000361902:A103S;ENSP00000389358:A73S;ENSP00000434375:A73S	ENSP00000361902:A103S	A	-	1	0	MYCL1	40139477	0.028000	0.19301	0.995000	0.50966	0.682000	0.39822	0.943000	0.29030	0.648000	0.30732	0.558000	0.71614	GCG	.	.		0.726	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082	
SLC1A7	6512	hgsc.bcm.edu	37	1	53553703	53553703	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:53553703C>T	ENST00000371494.4	-	11	1788	c.1661G>A	c.(1660-1662)aGt>aAt	p.S554N	SLC1A7_ENST00000488036.1_5'UTR|RP11-334A14.5_ENST00000447867.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	554					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CTCCAGCTCACTGATCTGGAT	0.657																																					p.S554N	NSCLC(128;80 1811 21245 38490 51715)	Atlas-SNP	.											.	SLC1A7	65	.	0			c.G1661A						.						43.0	42.0	42.0					1																	53553703		2203	4300	6503	SO:0001583	missense	6512	exon11			AGCTCACTGATCT	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1661G>A	chr1.hg19:g.53553703C>T	ENSP00000360549:p.Ser554Asn	107.0	0.0		86.0	49.0	NM_006671	Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	hg19	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	0.088	-1.171696	0.01646	.	.	ENSG00000162383	ENST00000371494	T	0.49432	0.78	5.76	2.41	0.29592	.	0.230381	0.43260	N	0.000582	T	0.18341	0.0440	N	0.03608	-0.345	0.80722	D	1	B;B	0.14438	0.0;0.01	B;B	0.09377	0.0;0.004	T	0.21211	-1.0252	10	0.02654	T	1	0.4463	9.3022	0.37853	0.0:0.6597:0.0:0.3403	.	554;207	O00341;B3KSM4	EAA5_HUMAN;.	N	554	ENSP00000360549:S554N	ENSP00000360549:S554N	S	-	2	0	SLC1A7	53326291	0.801000	0.28930	0.643000	0.29450	0.172000	0.22775	1.258000	0.32944	0.757000	0.33036	0.655000	0.94253	AGT	.	.		0.657	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	
IVL	3713	hgsc.bcm.edu	37	1	152883884	152883884	+	Silent	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:152883884G>A	ENST00000368764.3	+	2	1675	c.1611G>A	c.(1609-1611)aaG>aaA	p.K537K	IVL_ENST00000392667.2_Silent_p.K391K			P07476	INVO_HUMAN	involucrin	537	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagaaggggcagctgg	0.577																																					p.K537K		Atlas-SNP	.											.	IVL	100	.	0			c.G1611A						.						57.0	56.0	56.0					1																	152883884		2203	4300	6503	SO:0001819	synonymous_variant	3713	exon2			GCAGAAGGGGCAG	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1611G>A	chr1.hg19:g.152883884G>A		88.0	0.0		76.0	19.0	NM_005547	Q5T7P4	Silent	SNP	ENST00000368764.3	hg19	CCDS1030.1																																																																																			.	.		0.577	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
IQGAP3	128239	hgsc.bcm.edu	37	1	156503902	156503902	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:156503902C>G	ENST00000361170.2	-	30	3782	c.3772G>C	c.(3772-3774)Gag>Cag	p.E1258Q		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1258					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTCTGGCTCTGGCACCTGG	0.597																																					p.E1258Q		Atlas-SNP	.											.	IQGAP3	146	.	0			c.G3772C						.						110.0	102.0	104.0					1																	156503902		2203	4300	6503	SO:0001583	missense	128239	exon30			CTGGCTCTGGCAC	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3772G>C	chr1.hg19:g.156503902C>G	ENSP00000354451:p.Glu1258Gln	26.0	0.0		29.0	9.0	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	hg19	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669470	0.88348	.	.	ENSG00000183856	ENST00000361170	T	0.53640	0.61	4.88	4.88	0.63580	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	M	0.83384	2.64	0.46927	D	0.999259	D	0.63046	0.992	D	0.66716	0.946	T	0.70335	-0.4900	10	0.72032	D	0.01	-33.8292	17.1295	0.86723	0.0:1.0:0.0:0.0	.	1258	Q86VI3	IQGA3_HUMAN	Q	1258	ENSP00000354451:E1258Q	ENSP00000354451:E1258Q	E	-	1	0	IQGAP3	154770526	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	4.725000	0.61979	2.700000	0.92200	0.462000	0.41574	GAG	.	.		0.597	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
INSRR	3645	hgsc.bcm.edu	37	1	156815496	156815496	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:156815496G>T	ENST00000368195.3	-	10	2485	c.2089C>A	c.(2089-2091)Cag>Aag	p.Q697K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	697	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGAACCTGACCAGGAGGT	0.617																																					p.Q697K		Atlas-SNP	.											.	INSRR	309	.	0			c.C2089A						.						46.0	45.0	45.0					1																	156815496		2203	4300	6503	SO:0001583	missense	3645	exon10			GAACCTGACCAGG	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2089C>A	chr1.hg19:g.156815496G>T	ENSP00000357178:p.Gln697Lys	58.0	0.0		74.0	19.0	NM_014215	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	hg19	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	9.275	1.046560	0.19748	.	.	ENSG00000027644	ENST00000368195	T	0.55413	0.52	4.58	4.58	0.56647	Fibronectin, type III (2);	0.000000	0.45867	D	0.000333	T	0.22003	0.0530	.	.	.	0.25684	N	0.985763	B	0.26809	0.16	B	0.26094	0.066	T	0.03287	-1.1052	9	0.35671	T	0.21	.	10.3197	0.43758	0.0:0.0:0.8035:0.1965	.	697	P14616	INSRR_HUMAN	K	697	ENSP00000357178:Q697K	ENSP00000357178:Q697K	Q	-	1	0	INSRR	155082120	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.757000	0.62213	2.535000	0.85469	0.561000	0.74099	CAG	.	.		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
ATP1A2	477	hgsc.bcm.edu	37	1	160093074	160093074	+	Silent	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:160093074A>G	ENST00000361216.3	+	4	338	c.249A>G	c.(247-249)acA>acG	p.T83T	ATP1A2_ENST00000392233.3_Silent_p.T83T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	83					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACCTCCCACAACCCCTGAGT	0.632																																					p.T83T		Atlas-SNP	.											.	ATP1A2	167	.	0			c.A249G						.						158.0	157.0	158.0					1																	160093074		2203	4300	6503	SO:0001819	synonymous_variant	477	exon4			TCCCACAACCCCT	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.249A>G	chr1.hg19:g.160093074A>G		62.0	0.0		88.0	26.0	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	hg19	CCDS1196.1																																																																																			.	.		0.632	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
TNN	63923	hgsc.bcm.edu	37	1	175048844	175048844	+	Splice_Site	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:175048844G>A	ENST00000239462.4	+	3	897		c.e3+1			NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N						axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTGCCCAGGGTGAGAGCGGA	0.602																																					.		Atlas-SNP	.											.	TNN	297	.	0			c.784+1G>A						.						24.0	18.0	20.0					1																	175048844		2157	4229	6386	SO:0001630	splice_region_variant	63923	exon3			CCCAGGGTGAGAG	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.784+1G>A	chr1.hg19:g.175048844G>A		107.0	0.0		98.0	34.0	NM_022093	B9EGP3|Q5R360	Splice_Site	SNP	ENST00000239462.4	hg19	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507294	0.85282	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNN	173315467	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.917000	0.92751	2.321000	0.78463	0.491000	0.48974	.	.	.		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	Intron
KIF21B	23046	hgsc.bcm.edu	37	1	200946389	200946389	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:200946389T>C	ENST00000422435.2	-	31	4592	c.4276A>G	c.(4276-4278)Atg>Gtg	p.M1426V	KIF21B_ENST00000461742.2_Missense_Mutation_p.M1426V|KIF21B_ENST00000360529.5_Missense_Mutation_p.M1413V|KIF21B_ENST00000332129.2_Missense_Mutation_p.M1413V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1426					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCGTACAGCATGGTGCCCGAA	0.632																																					p.M1426V		Atlas-SNP	.											.	KIF21B	208	.	0			c.A4276G						.						141.0	127.0	132.0					1																	200946389		2203	4300	6503	SO:0001583	missense	23046	exon31			ACAGCATGGTGCC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4276A>G	chr1.hg19:g.200946389T>C	ENSP00000411831:p.Met1426Val	72.0	0.0		64.0	20.0	NM_001252102	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	hg19	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.572007	0.00895	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	4.88	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.340989	0.31636	N	0.007319	T	0.01661	0.0053	N	0.00583	-1.355	0.24546	N	0.994043	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.45279	-0.9272	10	0.16896	T	0.51	.	6.9738	0.24664	0.1331:0.075:0.0:0.7918	.	1413;1426;1426;1413	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1413;1413;1426;1426;1426	ENSP00000328494:M1413V;ENSP00000353724:M1413V;ENSP00000433808:M1426V;ENSP00000411831:M1426V	ENSP00000328494:M1413V	M	-	1	0	KIF21B	199213012	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	1.537000	0.36083	0.692000	0.31613	-0.516000	0.04426	ATG	.	.		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
LGR6	59352	hgsc.bcm.edu	37	1	202273760	202273760	+	Splice_Site	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:202273760T>A	ENST00000367278.3	+	11	1159		c.e11+2		LGR6_ENST00000255432.7_Splice_Site|LGR6_ENST00000308543.3_Splice_Site|LGR6_ENST00000439764.2_Splice_Site	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCGAGTCCTGTGAGTGCTCAC	0.597																																					.		Atlas-SNP	.											.	LGR6	102	.	0			c.1070+2T>A						.						48.0	52.0	51.0					1																	202273760		2203	4300	6503	SO:0001630	splice_region_variant	59352	exon11			GTCCTGTGAGTGC	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1070+2T>A	chr1.hg19:g.202273760T>A		77.0	0.0		105.0	23.0	NM_001017403	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Splice_Site	SNP	ENST00000367278.3	hg19	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416715	0.83449	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6335	0.56671	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGR6	200540383	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.464000	0.73534	1.966000	0.57179	0.533000	0.62120	.	.	.		0.597	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	Intron
IRF6	3664	hgsc.bcm.edu	37	1	209961787	209961787	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:209961787G>A	ENST00000367021.3	-	9	1554	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	IRF6_ENST00000542854.1_Missense_Mutation_p.P366L|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	461					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGGGCAGGGGGCAGTTGCAT	0.468										HNSCC(57;0.16)																											p.P461L		Atlas-SNP	.											.	IRF6	65	.	0			c.C1382T						.						58.0	62.0	60.0					1																	209961787		2203	4300	6503	SO:0001583	missense	3664	exon9			GCAGGGGGCAGTT	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1382C>T	chr1.hg19:g.209961787G>A	ENSP00000355988:p.Pro461Leu	48.0	0.0		55.0	19.0	NM_006147	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	hg19	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	9.897	1.205880	0.22205	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.97430	-4.38;-3.96	5.67	5.67	0.87782	.	1.245660	0.04898	N	0.450813	D	0.94208	0.8141	N	0.08118	0	0.37386	D	0.912241	B	0.13594	0.008	B	0.09377	0.004	T	0.73691	-0.3903	10	0.72032	D	0.01	.	19.7847	0.96432	0.0:0.0:1.0:0.0	.	461	O14896	IRF6_HUMAN	L	461;366	ENSP00000355988:P461L;ENSP00000440532:P366L	ENSP00000355988:P461L	P	-	2	0	IRF6	208028410	0.972000	0.33761	0.343000	0.25615	0.226000	0.24999	4.067000	0.57527	2.679000	0.91253	0.650000	0.86243	CCC	.	.		0.468	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	
TATDN3	128387	hgsc.bcm.edu	37	1	212977961	212977961	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:212977961G>C	ENST00000366974.4	+	7	549	c.455G>C	c.(454-456)gGa>gCa	p.G152A	TATDN3_ENST00000366973.4_Missense_Mutation_p.G152A|TATDN3_ENST00000526997.1_Missense_Mutation_p.G152A|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526641.1_Missense_Mutation_p.G131A|TATDN3_ENST00000532324.1_Missense_Mutation_p.G152A|TATDN3_ENST00000531963.1_Missense_Mutation_p.G152A	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	152					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CGCTCTGCTGGAAGACCTACC	0.343																																					p.G152A		Atlas-SNP	.											.	TATDN3	23	.	0			c.G455C						.						96.0	83.0	87.0					1																	212977961		2203	4300	6503	SO:0001583	missense	128387	exon7			CTGCTGGAAGACC	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.455G>C	chr1.hg19:g.212977961G>C	ENSP00000355941:p.Gly152Ala	230.0	0.0		211.0	68.0	NM_001146169	A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	hg19	CCDS31019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.541482|4.541482	0.85917|0.85917	.|.	.|.	ENSG00000203705|ENSG00000203705	ENST00000527693|ENST00000532324;ENST00000366974;ENST00000526641;ENST00000531963;ENST00000366973;ENST00000526997;ENST00000530399	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56307|0.56307	0.1976|0.1976	L|L	0.28776|0.28776	0.89|0.89	0.80722|0.80722	D|D	1|1	.|B;P;P;P;P;P	.|0.50617	.|0.214;0.737;0.838;0.937;0.652;0.866	.|B;P;P;P;B;P	.|0.53035	.|0.153;0.601;0.525;0.716;0.226;0.527	T|T	0.47169|0.47169	-0.9138|-0.9138	5|9	.|0.06365	.|T	.|0.9	-5.013|-5.013	19.4401|19.4401	0.94815|0.94815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|100;131;152;152;152;152	.|B7Z2Z9;E9PNH3;G3V151;E9PJE5;Q17R31-2;Q17R31	.|.;.;.;.;.;TATD3_HUMAN	Q|A	1|152;152;131;152;152;152;151	.|.	.|ENSP00000355940:G152A	E|G	+|+	1|2	0|0	TATDN3|TATDN3	211044584|211044584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.918000|8.918000	0.92759|0.92759	2.697000|2.697000	0.92050|0.92050	0.557000|0.557000	0.71058|0.71058	GAA|GGA	.	.		0.343	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838	
ANGEL2	90806	hgsc.bcm.edu	37	1	213181634	213181634	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:213181634T>C	ENST00000366962.3	-	3	714	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	ANGEL2_ENST00000540642.1_Missense_Mutation_p.Y61C|ANGEL2_ENST00000360506.2_Missense_Mutation_p.Y18C|ANGEL2_ENST00000535388.1_Missense_Mutation_p.Y18C|ANGEL2_ENST00000544555.1_Missense_Mutation_p.Y18C	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	187										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GCAATGTCTATAAAGGTGAGA	0.353																																					p.Y187C		Atlas-SNP	.											.	ANGEL2	45	.	0			c.A560G						.						95.0	95.0	95.0					1																	213181634		2203	4300	6503	SO:0001583	missense	90806	exon3			TGTCTATAAAGGT	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.560A>G	chr1.hg19:g.213181634T>C	ENSP00000355929:p.Tyr187Cys	178.0	0.0		150.0	38.0	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	hg19	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188229	0.78789	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388;ENST00000310246	T;T;T;T;T	0.58060	1.31;0.36;0.36;0.96;0.55	5.76	4.64	0.57946	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83764	0.0216	10	0.87932	D	0	-17.5195	11.6532	0.51301	0.0:0.0689:0.0:0.9311	.	61;165;187	F5H476;Q96AL9;Q5VTE6	.;.;ANGE2_HUMAN	C	187;18;18;61;18;165	ENSP00000355929:Y187C;ENSP00000353696:Y18C;ENSP00000443193:Y18C;ENSP00000446124:Y61C;ENSP00000438141:Y18C	ENSP00000309755:Y165C	Y	-	2	0	ANGEL2	211248257	1.000000	0.71417	0.745000	0.31077	0.989000	0.77384	7.603000	0.82811	1.010000	0.39314	0.533000	0.62120	TAT	.	.		0.353	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
TLR5	7100	hgsc.bcm.edu	37	1	223284946	223284946	+	Silent	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:223284946T>C	ENST00000540964.1	-	4	1889	c.1428A>G	c.(1426-1428)gaA>gaG	p.E476E	TLR5_ENST00000342210.6_Silent_p.E476E			O60602	TLR5_HUMAN	toll-like receptor 5	476			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGAAAAGCTGTTCTAAGCTGG	0.423																																					p.E476E		Atlas-SNP	.											.	TLR5	86	.	0			c.A1428G						.						75.0	77.0	76.0					1																	223284946		2203	4300	6503	SO:0001819	synonymous_variant	7100	exon6			AAGCTGTTCTAAG		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1428A>G	chr1.hg19:g.223284946T>C		79.0	0.0		102.0	13.0	NM_003268	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	hg19	CCDS31033.1																																																																																			.	.		0.423	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
OBSCN	84033	hgsc.bcm.edu	37	1	228399589	228399589	+	Silent	SNP	T	T	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:228399589T>G	ENST00000422127.1	+	2	149	c.105T>G	c.(103-105)ggT>ggG	p.G35G	OBSCN_ENST00000570156.2_Silent_p.G35G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.G35G|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	35	Ig-like 1.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATCGTGGGTAATCCCACGC	0.687																																					p.G35G		Atlas-SNP	.											.	OBSCN	2142	.	0			c.T105G						.						10.0	12.0	12.0					1																	228399589		2037	4169	6206	SO:0001819	synonymous_variant	84033	exon2			CGTGGGTAATCCC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.105T>G	chr1.hg19:g.228399589T>G		119.0	0.0		128.0	32.0	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	hg19	CCDS58065.1																																																																																			.	.		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
TARBP1	6894	hgsc.bcm.edu	37	1	234565278	234565278	+	Silent	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:234565278G>A	ENST00000040877.1	-	16	2754	c.2755C>T	c.(2755-2757)Cta>Tta	p.L919L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	919					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACGGCAGGTAGAAACGGTTCC	0.423																																					p.L919L		Atlas-SNP	.											.	TARBP1	111	.	0			c.C2755T						.						96.0	98.0	97.0					1																	234565278		2203	4300	6503	SO:0001819	synonymous_variant	6894	exon16			CAGGTAGAAACGG		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2755C>T	chr1.hg19:g.234565278G>A		149.0	0.0		161.0	39.0	NM_005646	Q9H581	Silent	SNP	ENST00000040877.1	hg19	CCDS1601.1																																																																																			.	.		0.423	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	
ZP4	57829	hgsc.bcm.edu	37	1	238045816	238045816	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:238045816G>T	ENST00000366570.4	-	12	1687	c.1529C>A	c.(1528-1530)gCa>gAa	p.A510E	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	510					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAAAGGCCTGCCACCCACAG	0.453																																					p.A510E	NSCLC(166;160 2029 11600 18754 19936)	Atlas-SNP	.											.	ZP4	161	.	0			c.C1529A						.						114.0	115.0	115.0					1																	238045816		2203	4300	6503	SO:0001583	missense	57829	exon12			AGGCCTGCCACCC	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1529C>A	chr1.hg19:g.238045816G>T	ENSP00000355529:p.Ala510Glu	57.0	0.0		57.0	23.0	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	hg19	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381892	0.61845	.	.	ENSG00000116996	ENST00000366570	T	0.75367	-0.93	3.3	1.38	0.22167	.	0.999559	0.08091	N	0.999251	T	0.71804	0.3383	L	0.43923	1.385	0.21762	N	0.999558	D	0.57571	0.98	P	0.51701	0.677	T	0.58498	-0.7626	10	0.46703	T	0.11	-1.5864	5.0904	0.14706	0.2839:0.0:0.7161:0.0	.	510	Q12836	ZP4_HUMAN	E	510	ENSP00000355529:A510E	ENSP00000355529:A510E	A	-	2	0	ZP4	236112439	0.952000	0.32445	0.724000	0.30704	0.470000	0.32858	1.876000	0.39588	0.391000	0.25143	-0.150000	0.13652	GCA	.	.		0.453	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
GEN1	348654	hgsc.bcm.edu	37	2	17962727	17962727	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:17962727G>T	ENST00000381254.2	+	14	2462	c.2248G>T	c.(2248-2250)Gtc>Ttc	p.V750F	GEN1_ENST00000317402.7_Missense_Mutation_p.V750F|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	750					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGACTATAAAGTCAATACTTC	0.368								Homologous recombination																													p.V750F		Atlas-SNP	.											GEN1_ENST00000381254,NS,carcinoma,0,1	GEN1	79	.	0			c.G2248T						.						78.0	82.0	81.0					2																	17962727		2203	4298	6501	SO:0001583	missense	348654	exon14			TATAAAGTCAATA	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2248G>T	chr2.hg19:g.17962727G>T	ENSP00000370653:p.Val750Phe	96.0	0.0		90.0	33.0	NM_182625	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	hg19	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	8.702	0.910041	0.17833	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.31769	1.48;1.48	5.19	-4.34	0.03666	.	1.705140	0.03574	N	0.229152	T	0.19685	0.0473	L	0.40543	1.245	0.09310	N	1	P	0.35982	0.531	B	0.30782	0.12	T	0.14008	-1.0488	10	0.62326	D	0.03	-23.9512	1.9392	0.03343	0.4547:0.0924:0.1723:0.2807	.	750	Q17RS7	GEN_HUMAN	F	750;750;387	ENSP00000318977:V750F;ENSP00000370653:V750F	ENSP00000318977:V750F	V	+	1	0	GEN1	17826208	0.000000	0.05858	0.000000	0.03702	0.323000	0.28346	-0.382000	0.07408	-1.052000	0.03222	0.655000	0.94253	GTC	.	.		0.368	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
EFR3B	22979	hgsc.bcm.edu	37	2	25364302	25364302	+	Splice_Site	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:25364302G>A	ENST00000403714.3	+	17	2105	c.1922G>A	c.(1921-1923)aGg>aAg	p.R641K	EFR3B_ENST00000402191.1_Splice_Site_p.R606K|EFR3B_ENST00000401432.3_Splice_Site_p.R641K|EFR3B_ENST00000405108.1_Splice_Site_p.R493K	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	641										endometrium(1)	1						GAGAGGCCCAGGTGAGGAGAG	0.592																																					p.R641K		Atlas-SNP	.											.	EFR3B	29	.	0			c.G1922A						.						68.0	63.0	64.0					2																	25364302		692	1591	2283	SO:0001630	splice_region_variant	22979	exon17			GGCCCAGGTGAGG	AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.1922+1G>A	chr2.hg19:g.25364302G>A		54.0	0.0		38.0	14.0	NM_014971	B7WPL8|Q86XU6	Missense_Mutation	SNP	ENST00000403714.3	hg19	CCDS46231.1	.	.	.	.	.	.	.	.	.	.	G	5.195	0.221460	0.09863	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000405108;ENST00000264719	T;T;T;T;T	0.28895	1.59;1.61;1.61;1.61;1.64	5.25	5.25	0.73442	.	0.107670	0.64402	D	0.000006	T	0.12347	0.0300	N	0.02315	-0.6	0.50813	D	0.999893	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.13442	-1.0509	10	0.05833	T	0.94	-26.6435	15.5535	0.76173	0.0:0.0:1.0:0.0	.	641;641	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	K	641;641;606;606;493;476	ENSP00000386082:R641K;ENSP00000384081:R641K;ENSP00000385832:R606K;ENSP00000384454:R493K;ENSP00000264719:R476K	ENSP00000264719:R476K	R	+	2	0	EFR3B	25217806	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	2.851000	0.48302	2.449000	0.82847	0.563000	0.77884	AGG	.	.		0.592	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324808.1	NM_014971	Missense_Mutation
TMEM214	54867	hgsc.bcm.edu	37	2	27261574	27261574	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:27261574A>G	ENST00000238788.9	+	12	1360	c.1298A>G	c.(1297-1299)cAg>cGg	p.Q433R	TMEM214_ENST00000404032.3_Missense_Mutation_p.Q388R	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	433					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCATAGGTACAGAAGTCTTTG	0.512																																					p.Q433R		Atlas-SNP	.											.	TMEM214	41	.	0			c.A1298G						.						54.0	57.0	56.0					2																	27261574		2017	4177	6194	SO:0001583	missense	54867	exon12			AGGTACAGAAGTC		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1298A>G	chr2.hg19:g.27261574A>G	ENSP00000238788:p.Gln433Arg	58.0	0.0		56.0	21.0	NM_017727	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	hg19	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.52|10.52	1.372934|1.372934	0.24857|0.24857	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135|ENST00000425720	T;T;T|.	0.39056|.	1.1;1.1;1.1|.	5.39|5.39	-1.48|-1.48	0.08745|0.08745	.|.	0.499938|.	0.22690|.	N|.	0.056831|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.11560|0.11560	0.145|0.145	0.25854|0.25854	N|N	0.983905|0.983905	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.31138|0.31138	-0.9954|-0.9954	10|5	0.02654|.	T|.	1|.	-0.6395|-0.6395	10.9816|10.9816	0.47497|0.47497	0.3754:0.0:0.6246:0.0|0.3754:0.0:0.6246:0.0	.|.	388;433|.	Q6NUQ4-2;Q6NUQ4|.	.;TM214_HUMAN|.	R|G	433;388;173;93|218	ENSP00000238788:Q433R;ENSP00000384417:Q388R;ENSP00000392442:Q93R|.	ENSP00000238788:Q433R|.	Q|R	+|+	2|1	0|2	TMEM214|TMEM214	27115078|27115078	0.292000|0.292000	0.24362|0.24362	0.405000|0.405000	0.26409|0.26409	0.941000|0.941000	0.58515|0.58515	0.469000|0.469000	0.22067|0.22067	-0.202000|-0.202000	0.10268|0.10268	0.459000|0.459000	0.35465|0.35465	CAG|AGA	.	.		0.512	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727	
NRXN1	9378	hgsc.bcm.edu	37	2	50573856	50573856	+	Intron	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:50573856A>G	ENST00000406316.2	-	18	4841				NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000342183.5_Missense_Mutation_p.S78P	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATGCCGGTGACCTGTAGATT	0.602																																					p.S78P		Atlas-SNP	.											.	NRXN1	1118	.	0			c.T232C						.						96.0	75.0	82.0					2																	50573856		2203	4300	6503	SO:0001627	intron_variant	9378	exon1			CCGGTGACCTGTA	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.3365-109748T>C	chr2.hg19:g.50573856A>G		49.0	0.0		46.0	17.0	NM_138735	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	hg19	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941531	0.73557	.	.	ENSG00000179915	ENST00000342183;ENST00000536347	T	0.48201	0.82	4.52	4.52	0.55395	.	.	.	.	.	T	0.43634	0.1256	L	0.46157	1.445	0.80722	D	1	B	0.12630	0.006	B	0.17979	0.02	T	0.44406	-0.9330	9	0.87932	D	0	.	13.9972	0.64409	1.0:0.0:0.0:0.0	.	78	P58400	NRX1B_HUMAN	P	78;32	ENSP00000341184:S78P	ENSP00000341184:S78P	S	-	1	0	NRXN1	50427360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.569000	0.82380	1.916000	0.55485	0.379000	0.24179	TCA	.	.		0.602	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
MEIS1	4211	hgsc.bcm.edu	37	2	66664888	66664888	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:66664888A>G	ENST00000272369.9	+	2	489	c.32A>G	c.(31-33)tAc>tGc	p.Y11C	MEIS1_ENST00000488550.1_Missense_Mutation_p.Y11C|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000398506.2_Missense_Mutation_p.Y9C|MEIS1_ENST00000407092.2_Missense_Mutation_p.Y11C|MEIS1_ENST00000444274.2_5'Flank|MEIS1_ENST00000495021.2_5'Flank|MEIS1_ENST00000560281.2_Missense_Mutation_p.Y11C	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	11					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTACCCCATTACGGGGGCATG	0.587																																					p.Y11C		Atlas-SNP	.											.	MEIS1	52	.	0			c.A32G						.						46.0	45.0	46.0					2																	66664888		1999	4188	6187	SO:0001583	missense	4211	exon2			CCCATTACGGGGG		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.32A>G	chr2.hg19:g.66664888A>G	ENSP00000272369:p.Tyr11Cys	56.0	0.0		72.0	23.0	NM_002398	A8MV50	Missense_Mutation	SNP	ENST00000272369.9	hg19	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293359	0.80914	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506	T;T;T	0.30448	1.53;1.53;1.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.69823	2.125	0.80722	D	1	D;D;D	0.67145	0.996;0.975;0.996	D;P;D	0.66497	0.944;0.832;0.944	T	0.57323	-0.7831	10	0.66056	D	0.02	.	15.5973	0.76595	1.0:0.0:0.0:0.0	.	9;11;11	O00470-2;O00470;F8W8U3	.;MEIS1_HUMAN;.	C	11;11;9	ENSP00000272369:Y11C;ENSP00000384461:Y11C;ENSP00000381518:Y9C	ENSP00000272369:Y11C	Y	+	2	0	MEIS1	66518392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.656000	0.91102	2.217000	0.71921	0.533000	0.62120	TAC	.	.		0.587	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	
ALMS1	7840	hgsc.bcm.edu	37	2	73680731	73680731	+	Silent	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:73680731T>A	ENST00000264448.6	+	8	7185	c.7074T>A	c.(7072-7074)gtT>gtA	p.V2358V	ALMS1_ENST00000377715.1_Silent_p.V2358V|ALMS1_ENST00000409009.1_Silent_p.V2316V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2358					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAACTACAGTTAGAAGTCCTC	0.433																																					p.V2358V		Atlas-SNP	.											.	ALMS1	384	.	0			c.T7074A						.						63.0	58.0	60.0					2																	73680731		1875	4119	5994	SO:0001819	synonymous_variant	7840	exon8			TACAGTTAGAAGT	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7074T>A	chr2.hg19:g.73680731T>A		87.0	0.0		86.0	14.0	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																			.	.		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
PLA2R1	22925	hgsc.bcm.edu	37	2	160879323	160879323	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:160879323T>C	ENST00000283243.7	-	7	1353	c.1147A>G	c.(1147-1149)Aat>Gat	p.N383D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.N383D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	383					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTGTAGGGATTCCAGCCAGGC	0.373																																					p.N383D		Atlas-SNP	.											.	PLA2R1	153	.	0			c.A1147G						.						137.0	135.0	135.0					2																	160879323		2203	4300	6503	SO:0001583	missense	22925	exon7			AGGGATTCCAGCC	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1147A>G	chr2.hg19:g.160879323T>C	ENSP00000283243:p.Asn383Asp	87.0	0.0		66.0	22.0	NM_001195641	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	hg19	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.354739	0.41700	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16597	2.33;2.33	5.49	1.46	0.22682	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.663319	0.16750	N	0.201075	T	0.11707	0.0285	L	0.51422	1.61	0.25529	N	0.9873	B;B;B	0.28820	0.043;0.118;0.224	B;B;B	0.24701	0.045;0.055;0.035	T	0.22977	-1.0201	10	0.35671	T	0.21	.	0.9544	0.01382	0.2883:0.0948:0.2595:0.3574	.	383;383;383	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	D	383	ENSP00000283243:N383D;ENSP00000376524:N383D	ENSP00000283243:N383D	N	-	1	0	PLA2R1	160587569	0.996000	0.38824	0.984000	0.44739	0.991000	0.79684	0.192000	0.17096	0.352000	0.24053	0.533000	0.62120	AAT	.	.		0.373	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
PLA2R1	22925	hgsc.bcm.edu	37	2	160901376	160901376	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:160901376A>C	ENST00000283243.7	-	2	608	c.402T>G	c.(400-402)caT>caG	p.H134Q	PLA2R1_ENST00000392771.1_Missense_Mutation_p.H134Q	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	134	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGTGTTGTCATGCGCCACCT	0.463																																					p.H134Q		Atlas-SNP	.											.	PLA2R1	153	.	0			c.T402G						.						82.0	83.0	83.0					2																	160901376		2203	4300	6503	SO:0001583	missense	22925	exon2			GTTGTCATGCGCC	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.402T>G	chr2.hg19:g.160901376A>C	ENSP00000283243:p.His134Gln	106.0	0.0		80.0	10.0	NM_001195641	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	hg19	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	A	0.062	-1.221360	0.01530	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.40756	1.02;1.02	5.69	-11.4	0.00090	Ricin B-related lectin (1);Ricin B lectin (1);	1.391850	0.04601	N	0.398467	T	0.11067	0.0270	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.27739	-1.0065	10	0.23302	T	0.38	.	4.7628	0.13116	0.4352:0.3369:0.0989:0.1291	.	134;134;134	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	Q	134	ENSP00000283243:H134Q;ENSP00000376524:H134Q	ENSP00000283243:H134Q	H	-	3	2	PLA2R1	160609622	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.280000	0.01158	-4.392000	0.00052	-1.055000	0.02315	CAT	.	.		0.463	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
UNC80	285175	hgsc.bcm.edu	37	2	210650854	210650854	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:210650854G>T	ENST00000439458.1	+	5	745	c.665G>T	c.(664-666)aGa>aTa	p.R222I	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.6_Missense_Mutation_p.R222I	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	222					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGGGAACACAGACAGCCCGGA	0.498																																					p.R222I		Atlas-SNP	.											.	UNC80	280	.	0			c.G665T						.						118.0	106.0	110.0					2																	210650854		2203	4300	6503	SO:0001583	missense	285175	exon5			AACACAGACAGCC	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.665G>T	chr2.hg19:g.210650854G>T	ENSP00000391088:p.Arg222Ile	46.0	0.0		53.0	23.0	NM_182587	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	hg19	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172174	0.94807	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.40756	1.02;1.02	5.95	5.08	0.68730	.	0.046935	0.85682	D	0.000000	T	0.61899	0.2384	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.967	D;P	0.80764	0.994;0.549	T	0.65932	-0.6048	10	0.87932	D	0	.	14.9427	0.71006	0.0682:0.0:0.9318:0.0	.	222;222	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	I	222	ENSP00000391088:R222I;ENSP00000272845:R222I	ENSP00000272845:R222I	R	+	2	0	UNC80	210359099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.780000	0.75063	1.528000	0.49103	0.650000	0.86243	AGA	.	.		0.498	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
ERBB4	2066	hgsc.bcm.edu	37	2	212495254	212495254	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:212495254A>G	ENST00000342788.4	-	17	2322	c.2012T>C	c.(2011-2013)tTt>tCt	p.F671S	ERBB4_ENST00000436443.1_Missense_Mutation_p.F671S|ERBB4_ENST00000402597.1_Missense_Mutation_p.F661S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	671					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATAAACAGCAAATGTCAGACC	0.393										TSP Lung(8;0.080)																											p.F671S		Atlas-SNP	.											.	ERBB4	480	.	0			c.T2012C						.						102.0	106.0	105.0					2																	212495254		2203	4300	6503	SO:0001583	missense	2066	exon17			ACAGCAAATGTCA	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2012T>C	chr2.hg19:g.212495254A>G	ENSP00000342235:p.Phe671Ser	74.0	0.0		64.0	23.0	NM_001042599	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596329	0.66332	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76839	-1.05;-1.04;-1.04	5.62	5.62	0.85841	.	0.049344	0.85682	D	0.000000	T	0.72763	0.3501	L	0.38531	1.155	0.58432	D	0.999997	P;B;B;P;P	0.42692	0.787;0.01;0.001;0.787;0.682	B;B;B;B;B	0.42282	0.382;0.01;0.002;0.382;0.212	T	0.75252	-0.3383	10	0.51188	T	0.08	.	15.8218	0.78654	1.0:0.0:0.0:0.0	.	661;661;530;671;671	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	S	671;671;661	ENSP00000342235:F671S;ENSP00000403204:F671S;ENSP00000385565:F661S	ENSP00000342235:F671S	F	-	2	0	ERBB4	212203499	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.957000	0.93082	2.146000	0.66826	0.477000	0.44152	TTT	.	.		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ABCA12	26154	hgsc.bcm.edu	37	2	215890440	215890440	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:215890440T>C	ENST00000272895.7	-	11	1463	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C	AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000602182.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Y97C|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	415					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTAATCTTCATAGGAACCATT	0.303																																					p.Y415C	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											.	ABCA12	368	.	0			c.A1244G						.						77.0	81.0	79.0					2																	215890440		2203	4300	6503	SO:0001583	missense	26154	exon11			TCTTCATAGGAAC	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1244A>G	chr2.hg19:g.215890440T>C	ENSP00000272895:p.Tyr415Cys	47.0	0.0		31.0	10.0	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550258	0.45383	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.54675	0.56;0.56	5.96	0.436	0.16549	.	0.473178	0.19903	N	0.103480	T	0.35098	0.0920	N	0.19112	0.55	0.80722	D	1	P;P	0.34892	0.472;0.474	B;B	0.39904	0.302;0.313	T	0.05402	-1.0887	10	0.40728	T	0.16	.	5.8502	0.18689	0.2849:0.0:0.2703:0.4448	.	415;97	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	C	415;97	ENSP00000272895:Y415C;ENSP00000374312:Y97C	ENSP00000272895:Y415C	Y	-	2	0	ABCA12	215598685	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	0.276000	0.18716	-0.153000	0.11137	0.533000	0.62120	TAT	.	.		0.303	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
D2HGDH	728294	hgsc.bcm.edu	37	2	242684139	242684139	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr2:242684139A>G	ENST00000321264.4	+	6	909	c.700A>G	c.(700-702)Act>Gct	p.T234A	D2HGDH_ENST00000342518.6_Missense_Mutation_p.T234A|D2HGDH_ENST00000403782.1_Missense_Mutation_p.T100A|D2HGDH_ENST00000537090.1_Missense_Mutation_p.T234A	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	234	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCCGACGGCACTGTCCTGGA	0.622																																					p.T234A		Atlas-SNP	.											.	D2HGDH	39	.	0			c.A700G						.						160.0	133.0	142.0					2																	242684139		2203	4298	6501	SO:0001583	missense	728294	exon6			GACGGCACTGTCC	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.700A>G	chr2.hg19:g.242684139A>G	ENSP00000315351:p.Thr234Ala	105.0	0.0		84.0	7.0	NM_152783	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	hg19	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.621|9.621	1.133767|1.133767	0.21123|0.21123	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000417686|ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518	.|D;D;D;D	.|0.96587	.|-4.06;-4.06;-4.06;-4.06	5.1|5.1	2.43|2.43	0.29744|0.29744	.|FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	.|0.505399	.|0.20924	.|N	.|0.083233	D|D	0.95843|0.95843	0.8647|0.8647	M|M	0.81497|0.81497	2.545|2.545	0.09310|0.09310	N|N	1|1	.|P	.|0.34462	.|0.454	.|B	.|0.43155	.|0.41	D|D	0.91429|0.91429	0.5164|0.5164	5|10	.|0.52906	.|T	.|0.07	0.1971|0.1971	6.7859|6.7859	0.23673|0.23673	0.5517:0.1093:0.0:0.339|0.5517:0.1093:0.0:0.339	.|.	.|234	.|Q8N465	.|D2HDH_HUMAN	R|A	75|234;234;100;234	.|ENSP00000442796:T234A;ENSP00000315351:T234A;ENSP00000384723:T100A;ENSP00000339536:T234A	.|ENSP00000315351:T234A	H|T	+|+	2|1	0|0	D2HGDH|D2HGDH	242332812|242332812	0.104000|0.104000	0.21937|0.21937	0.241000|0.241000	0.24154|0.24154	0.014000|0.014000	0.08584|0.08584	1.608000|1.608000	0.36847|0.36847	0.748000|0.748000	0.32831|0.32831	0.459000|0.459000	0.35465|0.35465	CAC|ACT	.	.		0.622	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783	
ABHD5	51099	hgsc.bcm.edu	37	3	43743957	43743957	+	Silent	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr3:43743957G>A	ENST00000458276.2	+	3	507	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	128					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		AAGAAGTGGAGAATCAGTTTG	0.458																																					p.E128E		Atlas-SNP	.											ABHD5,colon,carcinoma,0,1	ABHD5	33	.	0			c.G384A						.						269.0	258.0	262.0					3																	43743957		2203	4300	6503	SO:0001819	synonymous_variant	51099	exon3			AGTGGAGAATCAG	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.384G>A	chr3.hg19:g.43743957G>A		95.0	0.0		109.0	39.0	NM_016006	B2R9K0|Q9Y369	Silent	SNP	ENST00000458276.2	hg19	CCDS2711.1																																																																																			.	.		0.458	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006	
COL7A1	1294	hgsc.bcm.edu	37	3	48624721	48624721	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr3:48624721C>T	ENST00000328333.8	-	23	3148	c.3041G>A	c.(3040-3042)cGg>cAg	p.R1014Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1014Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1014	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTGTCACCCGCTGGGAGCT	0.587																																					p.R1014Q		Atlas-SNP	.											.	COL7A1	320	.	0			c.G3041A						.						48.0	46.0	46.0					3																	48624721		2201	4300	6501	SO:0001583	missense	1294	exon23			GTCACCCGCTGGG	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3041G>A	chr3.hg19:g.48624721C>T	ENSP00000332371:p.Arg1014Gln	159.0	0.0		176.0	62.0	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.205961	0.22205	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.56444	0.46;0.46	5.91	-1.36	0.09085	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.388231	0.18643	N	0.135226	T	0.30135	0.0755	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.22626	-1.0211	10	0.46703	T	0.11	.	12.1584	0.54091	0.0:0.412:0.0:0.588	.	1014	Q02388	CO7A1_HUMAN	Q	1014	ENSP00000332371:R1014Q;ENSP00000412569:R1014Q	ENSP00000332371:R1014Q	R	-	2	0	COL7A1	48599725	0.001000	0.12720	0.964000	0.40570	0.468000	0.32798	-1.170000	0.03118	-0.092000	0.12417	-0.137000	0.14449	CGG	.	.		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
OR5H1	26341	hgsc.bcm.edu	37	3	97852199	97852199	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr3:97852199T>A	ENST00000354565.2	+	1	658	c.658T>A	c.(658-660)Ttt>Att	p.F220I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATCTTATACATTTGTTCTCTT	0.333																																					p.F220I		Atlas-SNP	.											.	OR5H1	71	.	0			c.T658A						.						70.0	76.0	74.0					3																	97852199		2201	4299	6500	SO:0001583	missense	26341	exon1			TATACATTTGTTC	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.658T>A	chr3.hg19:g.97852199T>A	ENSP00000346575:p.Phe220Ile	129.0	0.0		96.0	27.0	NM_001005338		Missense_Mutation	SNP	ENST00000354565.2	hg19	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	T	3.163	-0.171690	0.06421	.	.	ENSG00000231192	ENST00000354565	T	0.00115	8.71	3.57	-3.25	0.05079	GPCR, rhodopsin-like superfamily (1);	0.693493	0.12553	N	0.458902	T	0.00178	0.0005	M	0.73430	2.235	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.26467	-1.0102	10	0.72032	D	0.01	.	9.398	0.38415	0.0:0.2468:0.0:0.7532	.	220	A6NKK0	OR5H1_HUMAN	I	220	ENSP00000346575:F220I	ENSP00000346575:F220I	F	+	1	0	OR5H1	99334889	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.601000	0.05687	-0.674000	0.05253	0.164000	0.16699	TTT	.	.		0.333	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
CP	1356	hgsc.bcm.edu	37	3	148924011	148924011	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr3:148924011G>C	ENST00000264613.6	-	6	1414	c.1152C>G	c.(1150-1152)aaC>aaG	p.N384K		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	384	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGGGAGCATAGTTCCAGATGA	0.398																																					p.N384K		Atlas-SNP	.											.	CP	112	.	0			c.C1152G						.						138.0	137.0	137.0					3																	148924011		2203	4300	6503	SO:0001583	missense	1356	exon6			AGCATAGTTCCAG	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1152C>G	chr3.hg19:g.148924011G>C	ENSP00000264613:p.Asn384Lys	76.0	0.0		97.0	24.0	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	hg19	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306531	0.60305	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98978	-5.29;-5.29	5.81	-2.42	0.06542	Cupredoxin (2);	0.334565	0.38959	N	0.001515	D	0.97607	0.9216	M	0.75884	2.315	0.44927	D	0.997943	D;D;D;D	0.54047	0.964;0.964;0.964;0.964	B;B;B;B	0.42361	0.385;0.385;0.385;0.385	D	0.94716	0.7896	10	0.87932	D	0	-13.1636	12.8609	0.57913	0.5672:0.0:0.4328:0.0	.	384;384;384;384	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	K	384;167	ENSP00000264613:N384K;ENSP00000420545:N167K	ENSP00000264613:N384K	N	-	3	2	CP	150406701	1.000000	0.71417	0.539000	0.28077	0.890000	0.51754	1.024000	0.30077	-0.323000	0.08602	-0.736000	0.03550	AAC	.	.		0.398	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
COMMD2	51122	hgsc.bcm.edu	37	3	149468548	149468548	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr3:149468548T>C	ENST00000473414.1	-	4	373	c.319A>G	c.(319-321)Aga>Gga	p.R107G		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	107										NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATCTCTTTTCTGTTGTCCAGA	0.368																																					p.R107G		Atlas-SNP	.											.	COMMD2	21	.	0			c.A319G						.						142.0	137.0	138.0					3																	149468548		2203	4300	6503	SO:0001583	missense	51122	exon4			CTTTTCTGTTGTC	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.319A>G	chr3.hg19:g.149468548T>C	ENSP00000419475:p.Arg107Gly	148.0	0.0		142.0	38.0	NM_016094	Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	hg19	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895605	0.72639	.	.	ENSG00000114744	ENST00000473414	T	0.10763	2.84	5.58	4.39	0.52855	.	0.134163	0.64402	D	0.000003	T	0.23572	0.0570	M	0.85945	2.785	0.58432	D	0.99999	P	0.44946	0.846	P	0.46685	0.524	T	0.03139	-1.1068	10	0.62326	D	0.03	-23.518	12.1821	0.54218	0.0:0.0:0.2695:0.7305	.	107	Q86X83	COMD2_HUMAN	G	107	ENSP00000419475:R107G	ENSP00000419475:R107G	R	-	1	2	COMMD2	150951238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.011000	0.40922	1.015000	0.39444	0.528000	0.53228	AGA	.	.		0.368	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094	
ATP13A5	344905	hgsc.bcm.edu	37	3	193029669	193029669	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr3:193029669T>A	ENST00000342358.4	-	20	2498	c.2381A>T	c.(2380-2382)cAt>cTt	p.H794L	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	794						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CATTGCAAAATGGTAACAGCT	0.393																																					p.H794L		Atlas-SNP	.											.	ATP13A5	171	.	0			c.A2381T						.						142.0	130.0	134.0					3																	193029669		2203	4300	6503	SO:0001583	missense	344905	exon20			GCAAAATGGTAAC	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2381A>T	chr3.hg19:g.193029669T>A	ENSP00000341942:p.His794Leu	52.0	0.0		86.0	28.0	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	hg19	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213913	0.79352	.	.	ENSG00000187527	ENST00000342358	D	0.84660	-1.88	5.81	5.81	0.92471	HAD-like domain (1);	0.083216	0.52532	D	0.000075	D	0.92496	0.7617	M	0.89095	3.005	0.49483	D	0.999798	D	0.69078	0.997	D	0.69479	0.964	D	0.91779	0.5434	10	0.27785	T	0.31	-17.2742	14.1191	0.65175	0.0:0.0:0.0:1.0	.	794	Q4VNC0	AT135_HUMAN	L	794	ENSP00000341942:H794L	ENSP00000341942:H794L	H	-	2	0	ATP13A5	194512363	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	6.817000	0.75252	2.224000	0.72417	0.528000	0.53228	CAT	.	.		0.393	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
BANK1	55024	hgsc.bcm.edu	37	4	102951351	102951351	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr4:102951351G>C	ENST00000322953.4	+	10	2103	c.1829G>C	c.(1828-1830)aGa>aCa	p.R610T	BANK1_ENST00000508653.1_Missense_Mutation_p.R477T|BANK1_ENST00000444316.2_Missense_Mutation_p.R580T|BANK1_ENST00000504592.1_Missense_Mutation_p.R595T|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Missense_Mutation_p.R477T	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	610					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ATTATAAATAGACCTCCTGCC	0.388																																					p.R610T		Atlas-SNP	.											.	BANK1	95	.	0			c.G1829C						.						103.0	112.0	109.0					4																	102951351		2203	4300	6503	SO:0001583	missense	55024	exon10			TAAATAGACCTCC	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1829G>C	chr4.hg19:g.102951351G>C	ENSP00000320509:p.Arg610Thr	225.0	0.0		171.0	8.0	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	hg19	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260884	0.80246	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	M	0.62723	1.935	0.39151	D	0.962228	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64330	-0.6433	10	0.22706	T	0.39	.	16.9051	0.86124	0.0:0.0:1.0:0.0	.	477;610;595	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	T	595;610;477;477;580	ENSP00000421443:R595T;ENSP00000320509:R610T;ENSP00000412748:R477T;ENSP00000422314:R477T;ENSP00000388817:R580T	ENSP00000320509:R610T	R	+	2	0	BANK1	103170374	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.719000	0.68462	2.777000	0.95525	0.591000	0.81541	AGA	.	.		0.388	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
NDST4	64579	hgsc.bcm.edu	37	4	115754812	115754812	+	Silent	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr4:115754812G>T	ENST00000264363.2	-	12	3024	c.2346C>A	c.(2344-2346)gtC>gtA	p.V782V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	782	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GAAACTTCTGGACTTCATCCA	0.363																																					p.V782V		Atlas-SNP	.											.	NDST4	193	.	0			c.C2346A						.						81.0	79.0	79.0					4																	115754812		2203	4300	6503	SO:0001819	synonymous_variant	64579	exon12			CTTCTGGACTTCA	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2346C>A	chr4.hg19:g.115754812G>T		157.0	0.0		84.0	7.0	NM_022569	Q2KHM8	Silent	SNP	ENST00000264363.2	hg19	CCDS3706.1																																																																																			.	.		0.363	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
SPCS3	60559	hgsc.bcm.edu	37	4	177249473	177249473	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr4:177249473A>G	ENST00000503362.1	+	5	648	c.535A>G	c.(535-537)Agt>Ggt	p.S179G	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	179					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		AATAACGAAGAGTTATTAAAT	0.338																																					p.S179G		Atlas-SNP	.											.	SPCS3	15	.	0			c.A535G						.						52.0	48.0	49.0					4																	177249473		1818	4075	5893	SO:0001583	missense	60559	exon5			ACGAAGAGTTATT	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.535A>G	chr4.hg19:g.177249473A>G	ENSP00000427463:p.Ser179Gly	59.0	0.0		37.0	6.0	NM_021928	P12280|Q9H0S7	Missense_Mutation	SNP	ENST00000503362.1	hg19	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.232932	0.58777	.	.	ENSG00000129128	ENST00000503362	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	N	0.22421	0.69	0.58432	D	0.999999	B	0.20368	0.044	B	0.19148	0.024	T	0.49835	-0.8897	9	0.62326	D	0.03	-6.5363	15.7533	0.78005	1.0:0.0:0.0:0.0	.	179	P61009	SPCS3_HUMAN	G	179	.	ENSP00000427463:S179G	S	+	1	0	SPCS3	177486467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.660000	0.91121	2.170000	0.68504	0.528000	0.53228	AGT	.	.		0.338	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928	
IRX4	50805	hgsc.bcm.edu	37	5	1882113	1882113	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr5:1882113C>G	ENST00000505790.1	-	3	562	c.106G>C	c.(106-108)Gac>Cac	p.D36H	IRX4_ENST00000513692.1_Missense_Mutation_p.D36H|CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_Missense_Mutation_p.D36H	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	36					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGCCCGGAGTCCGCCAGCGTG	0.736																																					p.D36H		Atlas-SNP	.											.	IRX4	45	.	0			c.G106C						.						2.0	2.0	2.0					5																	1882113		1412	3187	4599	SO:0001583	missense	50805	exon2			CGGAGTCCGCCAG	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.106G>C	chr5.hg19:g.1882113C>G	ENSP00000423161:p.Asp36His	89.0	0.0		65.0	17.0	NM_016358	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	hg19	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.731551	0.48939	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;D	0.83837	-0.39;-0.39;-0.39;-1.77	3.99	3.11	0.35812	.	0.124888	0.51477	U	0.000085	D	0.85004	0.5598	M	0.83384	2.64	0.80722	D	1	P	0.42039	0.769	B	0.42882	0.401	D	0.86414	0.1750	10	0.87932	D	0	-12.1117	13.4828	0.61345	0.0:0.8413:0.1587:0.0	.	36	P78413	IRX4_HUMAN	H	36	ENSP00000231357:D36H;ENSP00000423161:D36H;ENSP00000424235:D36H;ENSP00000421772:D36H	ENSP00000231357:D36H	D	-	1	0	IRX4	1935113	1.000000	0.71417	0.620000	0.29132	0.009000	0.06853	6.622000	0.74233	0.788000	0.33755	0.461000	0.40582	GAC	.	.		0.736	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358	
NIM1K	167359	hgsc.bcm.edu	37	5	43280745	43280745	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr5:43280745C>A	ENST00000512796.1	+	4	2724	c.1225C>A	c.(1225-1227)Cca>Aca	p.P409T	NIM1_ENST00000326035.2_Missense_Mutation_p.P409T			Q8IY84	NIM1_HUMAN		409					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										CATGATGCTACCAGACCCTAA	0.428																																					p.P409T		Atlas-SNP	.											.	.	.	.	0			c.C1225A						.						47.0	48.0	48.0					5																	43280745		2203	4300	6503	SO:0001583	missense	0	exon4			ATGCTACCAGACC																												ENST00000512796.1:c.1225C>A	chr5.hg19:g.43280745C>A	ENSP00000420849:p.Pro409Thr	49.0	0.0		51.0	17.0	NM_153361	B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	hg19	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085169	0.36758	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.71103	-0.54;-0.54	5.56	5.56	0.83823	.	0.437993	0.25447	N	0.030604	T	0.70316	0.3210	L	0.56769	1.78	0.58432	D	0.999995	B	0.18610	0.029	B	0.16722	0.016	T	0.65549	-0.6141	10	0.45353	T	0.12	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	409	Q8IY84	NIM1_HUMAN	T	409	ENSP00000313572:P409T;ENSP00000420849:P409T	ENSP00000313572:P409T	P	+	1	0	AC114947.1	43316502	0.971000	0.33674	0.976000	0.42696	0.819000	0.46315	2.500000	0.45381	2.629000	0.89072	0.655000	0.94253	CCA	.	.		0.428	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
MTX3	345778	hgsc.bcm.edu	37	5	79285983	79285983	+	Splice_Site	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr5:79285983C>T	ENST00000512528.1	-	3	248	c.228G>A	c.(226-228)caG>caA	p.Q76Q	MTX3_ENST00000509852.1_Splice_Site_p.Q76Q|MTX3_ENST00000512560.1_Splice_Site_p.Q15Q			Q5HYI7	MTX3_HUMAN	metaxin 3	76					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AACCACCCACCTGTTTTCTTA	0.333																																					p.Q76Q		Atlas-SNP	.											.	MTX3	29	.	0			c.G228A						.						75.0	71.0	72.0					5																	79285983		1814	4069	5883	SO:0001630	splice_region_variant	345778	exon3			ACCCACCTGTTTT	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.228+1G>A	chr5.hg19:g.79285983C>T		377.0	0.0		291.0	65.0	NM_001010891	B4DL65|E9PB57|Q7Z380|Q8NB92	Silent	SNP	ENST00000512528.1	hg19																																																																																				.	.		0.333	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971	Silent
DMXL1	1657	hgsc.bcm.edu	37	5	118560447	118560447	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr5:118560447A>G	ENST00000311085.8	+	37	8338	c.8258A>G	c.(8257-8259)cAt>cGt	p.H2753R	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.H2774R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2753										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGACTTCTCATCCAACTCTT	0.239																																					p.H2753R		Atlas-SNP	.											.	DMXL1	268	.	0			c.A8258G						.						60.0	64.0	63.0					5																	118560447		2179	4245	6424	SO:0001583	missense	1657	exon37			CTTCTCATCCAAC	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8258A>G	chr5.hg19:g.118560447A>G	ENSP00000309690:p.His2753Arg	239.0	0.0		194.0	48.0	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075900	0.76415	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01388	4.95;4.95	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	M	0.84585	2.705	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00461	-1.1725	10	0.87932	D	0	-16.8583	15.0902	0.72188	1.0:0.0:0.0:0.0	.	2774;2753	F5H269;Q9Y485	.;DMXL1_HUMAN	R	2753;2774	ENSP00000309690:H2753R;ENSP00000439479:H2774R	ENSP00000309690:H2753R	H	+	2	0	DMXL1	118588346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.875000	0.92372	1.963000	0.57068	0.397000	0.26171	CAT	.	.		0.239	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
CDC25C	995	hgsc.bcm.edu	37	5	137625188	137625188	+	Splice_Site	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr5:137625188A>G	ENST00000323760.6	-	10	1206		c.e10+1		CDC25C_ENST00000348983.3_Splice_Site|CDC25C_ENST00000415130.2_Splice_Site|CDC25C_ENST00000513970.1_Splice_Site|CDC25C_ENST00000356505.3_Splice_Site|CDC25C_ENST00000514555.1_Splice_Site|CDC25C_ENST00000357274.3_Splice_Site	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AAATCTGCTTACTGTTTCTGG	0.418																																					.		Atlas-SNP	.											.	CDC25C	37	.	0			c.708+2T>C						.						154.0	137.0	143.0					5																	137625188		2203	4300	6503	SO:0001630	splice_region_variant	995	exon8			CTGCTTACTGTTT	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.927+1T>C	chr5.hg19:g.137625188A>G		75.0	0.0		67.0	12.0	NM_022809	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Splice_Site	SNP	ENST00000323760.6	hg19	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276556	0.80580	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5357	0.67958	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC25C	137653087	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.847000	0.75404	2.263000	0.75096	0.533000	0.62120	.	.	.		0.418	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1		Intron
PCDHA10	56139	hgsc.bcm.edu	37	5	140236128	140236128	+	Silent	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr5:140236128A>G	ENST00000307360.5	+	1	495	c.495A>G	c.(493-495)gcA>gcG	p.A165A	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A165A|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGAACGCATTGCTTACTT	0.413																																					p.A165A		Atlas-SNP	.											.	PCDHA10	358	.	0			c.A495G						.						114.0	120.0	118.0					5																	140236128		2198	4271	6469	SO:0001819	synonymous_variant	56139	exon1			GAACGCATTGCTT	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.495A>G	chr5.hg19:g.140236128A>G		245.0	0.0		196.0	38.0	NM_031859	A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	hg19	CCDS54921.1																																																																																			.	.		0.413	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
NR3C1	2908	hgsc.bcm.edu	37	5	142680245	142680245	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr5:142680245T>A	ENST00000343796.2	-	5	2545	c.1552A>T	c.(1552-1554)Aaa>Taa	p.K518*	NR3C1_ENST00000415690.2_Nonsense_Mutation_p.K518*|NR3C1_ENST00000504572.1_Nonsense_Mutation_p.K519*|NR3C1_ENST00000416954.2_Nonsense_Mutation_p.K121*|NR3C1_ENST00000231509.3_Nonsense_Mutation_p.K519*|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000394466.2_Nonsense_Mutation_p.K519*|NR3C1_ENST00000394464.2_Nonsense_Mutation_p.K518*|NR3C1_ENST00000424646.2_Nonsense_Mutation_p.K492*|NR3C1_ENST00000503201.1_Nonsense_Mutation_p.K518*	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	518	Hinge.|Interaction with CLOCK.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ACTATTGTTTTGTTACCAGGA	0.408																																					p.K519X		Atlas-SNP	.											.	NR3C1	124	.	0			c.A1555T						.						173.0	158.0	163.0					5																	142680245		2203	4300	6503	SO:0001587	stop_gained	2908	exon5			TTGTTTTGTTACC	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1552A>T	chr5.hg19:g.142680245T>A	ENSP00000343205:p.Lys518*	118.0	0.0		90.0	14.0	NM_001024094	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Nonsense_Mutation	SNP	ENST00000343796.2	hg19	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	T	42	9.207009	0.99099	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	.	.	.	5.69	5.69	0.88448	.	0.235606	0.42420	D	0.000711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	15.94	0.79747	0.0:0.0:0.0:1.0	.	.	.	.	X	518;518;518;492;519;519;519;121;518	.	ENSP00000231509:K519X	K	-	1	0	NR3C1	142660438	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.430000	0.66501	2.156000	0.67533	0.533000	0.62120	AAA	.	.		0.408	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
HIST1H2BM	8342	hgsc.bcm.edu	37	6	27782903	27782903	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr6:27782903A>T	ENST00000359465.4	+	1	82	c.82A>T	c.(82-84)Aag>Tag	p.K28*	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	28					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAAGGATGGAAAGAAGCGCAA	0.498																																					p.K28X		Atlas-SNP	.											.	HIST1H2BM	36	.	0			c.A82T						.						150.0	145.0	147.0					6																	27782903		2203	4300	6503	SO:0001587	stop_gained	8342	exon1			GATGGAAAGAAGC	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.82A>T	chr6.hg19:g.27782903A>T	ENSP00000352442:p.Lys28*	111.0	0.0		88.0	37.0	NM_003521	Q6NWQ3	Nonsense_Mutation	SNP	ENST00000359465.4	hg19	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	12.21	1.870568	0.33069	.	.	ENSG00000196374	ENST00000359465	.	.	.	3.73	3.73	0.42828	.	0.000000	0.64402	U	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6095	0.56544	1.0:0.0:0.0:0.0	.	.	.	.	X	28	.	ENSP00000352442:K28X	K	+	1	0	HIST1H2BM	27890882	0.974000	0.33945	0.999000	0.59377	0.015000	0.08874	2.243000	0.43115	1.914000	0.55421	0.460000	0.39030	AAG	.	.		0.498	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521	
DAAM2	23500	hgsc.bcm.edu	37	6	39867896	39867896	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr6:39867896A>C	ENST00000398904.2	+	23	2905	c.2723A>C	c.(2722-2724)aAg>aCg	p.K908T	DAAM2_ENST00000538976.1_Missense_Mutation_p.K907T|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.K908T|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	908	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAGTGACAAGTTTGTCCCT	0.582																																					p.K908T		Atlas-SNP	.											.	DAAM2	101	.	0			c.A2723C						.						41.0	44.0	43.0					6																	39867896		2030	4170	6200	SO:0001583	missense	23500	exon23			GTGACAAGTTTGT	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2723A>C	chr6.hg19:g.39867896A>C	ENSP00000381876:p.Lys908Thr	55.0	0.0		48.0	11.0	NM_001201427	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	hg19	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.038921	0.35989	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.19532	2.14;2.14;2.14	5.13	1.37	0.22104	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.231645	0.43260	D	0.000590	T	0.17365	0.0417	M	0.82323	2.585	0.80722	D	1	B;B	0.33022	0.188;0.394	B;B	0.40101	0.165;0.319	T	0.02781	-1.1111	10	0.72032	D	0.01	.	8.6463	0.34007	0.6292:0.0:0.3708:0.0	.	907;908	G5EA45;Q86T65	.;DAAM2_HUMAN	T	908;908;907	ENSP00000274867:K908T;ENSP00000381876:K908T;ENSP00000437808:K907T	ENSP00000274867:K908T	K	+	2	0	DAAM2	39975874	1.000000	0.71417	0.999000	0.59377	0.418000	0.31294	1.965000	0.40471	0.092000	0.17331	0.459000	0.35465	AAG	.	.		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
GPR110	266977	hgsc.bcm.edu	37	6	46982578	46982578	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr6:46982578G>T	ENST00000371253.2	-	9	981	c.766C>A	c.(766-768)Cag>Aag	p.Q256K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.Q59K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	256	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCATTACACTGGGCTGGAAAC	0.403																																					p.Q256K		Atlas-SNP	.											.	GPR110	102	.	0			c.C766A						.						46.0	42.0	43.0					6																	46982578		2203	4300	6503	SO:0001583	missense	266977	exon9			TACACTGGGCTGG	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.766C>A	chr6.hg19:g.46982578G>T	ENSP00000360299:p.Gln256Lys	62.0	0.0		51.0	13.0	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	hg19	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963615	0.18583	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.31510	1.49;1.5	6.16	3.29	0.37713	.	0.490231	0.18826	N	0.130111	T	0.09862	0.0242	M	0.65975	2.015	0.09310	N	1	B	0.26672	0.156	B	0.19666	0.026	T	0.35549	-0.9784	10	0.07175	T	0.84	0.4581	8.9053	0.35519	0.0:0.3827:0.4729:0.1443	.	256	Q5T601	GP110_HUMAN	K	256;256;59	ENSP00000360299:Q256K;ENSP00000283297:Q59K	ENSP00000283297:Q59K	Q	-	1	0	GPR110	47090537	0.769000	0.28531	0.664000	0.29753	0.086000	0.17979	0.749000	0.26320	0.886000	0.36113	0.650000	0.86243	CAG	.	.		0.403	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	
GPR110	266977	hgsc.bcm.edu	37	6	46982580	46982580	+	Splice_Site	SNP	G	G	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr6:46982580G>C	ENST00000371253.2	-	9	979	c.764C>G	c.(763-765)gCc>gGc	p.A255G	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Splice_Site_p.A58G	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	255	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATTACACTGGGCTGGAAACAA	0.398																																					p.A255G		Atlas-SNP	.											.	GPR110	102	.	0			c.C764G						.						45.0	41.0	42.0					6																	46982580		2203	4300	6503	SO:0001630	splice_region_variant	266977	exon9			CACTGGGCTGGAA	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.764-1C>G	chr6.hg19:g.46982580G>C		63.0	0.0		49.0	14.0	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	hg19	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169183	0.38315	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.35605	1.33;1.3	6.16	1.24	0.21308	.	0.322217	0.26753	N	0.022676	T	0.18841	0.0452	M	0.66939	2.045	0.24316	N	0.995066	P	0.50819	0.939	P	0.45998	0.5	T	0.19386	-1.0307	10	0.25106	T	0.35	.	8.606	0.33773	0.381:0.0:0.619:0.0	.	255	Q5T601	GP110_HUMAN	G	255;255;58	ENSP00000360299:A255G;ENSP00000283297:A58G	ENSP00000283297:A58G	A	-	2	0	GPR110	47090539	0.774000	0.28592	0.653000	0.29593	0.095000	0.18619	-0.021000	0.12504	-0.057000	0.13199	0.650000	0.86243	GCC	.	.		0.398	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	Missense_Mutation
TMEM196	256130	hgsc.bcm.edu	37	7	19812310	19812310	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:19812310T>C	ENST00000405764.3	-	1	706	c.10A>G	c.(10-12)Agc>Ggc	p.S4G	TMEM196_ENST00000433641.1_Intron|TMEM196_ENST00000405844.1_Missense_Mutation_p.S4G|TMEM196_ENST00000422233.1_Intron|TMEM196_ENST00000493519.1_Intron	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	4						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						ATCTGACCGCTGGTGCACATC	0.577																																					p.S4G		Atlas-SNP	.											.	TMEM196	34	.	0			c.A10G						.						47.0	55.0	53.0					7																	19812310		692	1591	2283	SO:0001583	missense	256130	exon1			GACCGCTGGTGCA		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.10A>G	chr7.hg19:g.19812310T>C	ENSP00000384234:p.Ser4Gly	69.0	0.0		61.0	22.0	NM_152774	Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	hg19	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	T	28.2	4.897781	0.91962	.	.	ENSG00000173452	ENST00000405844;ENST00000405764	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	T	0.62889	0.2465	N	0.19112	0.55	0.80722	D	1	P	0.52577	0.954	D	0.63597	0.916	T	0.66701	-0.5857	8	0.59425	D	0.04	0.0072	16.5582	0.84512	0.0:0.0:0.0:1.0	.	4	Q5HYL7-4	.	G	4	.	ENSP00000384234:S4G	S	-	1	0	TMEM196	19778835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.594000	0.82698	2.308000	0.77769	0.533000	0.62120	AGC	.	.		0.577	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774	
PPP1R17	10842	hgsc.bcm.edu	37	7	31735086	31735086	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:31735086A>G	ENST00000342032.3	+	3	714	c.86A>G	c.(85-87)gAt>gGt	p.D29G	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	29					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										AAATTAGATGATCTTTCAGAC	0.363																																					p.D29G		Atlas-SNP	.											.	.	.	.	0			c.A86G						.						69.0	70.0	70.0					7																	31735086		2203	4300	6503	SO:0001583	missense	10842	exon3			TAGATGATCTTTC	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.86A>G	chr7.hg19:g.31735086A>G	ENSP00000340125:p.Asp29Gly	54.0	0.0		77.0	22.0	NM_006658	B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	hg19	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300939	0.81136	.	.	ENSG00000106341	ENST00000342032	T	0.38240	1.15	5.45	5.45	0.79879	.	0.273612	0.36740	N	0.002432	T	0.46964	0.1420	L	0.60455	1.87	0.80722	D	1	P	0.37330	0.59	P	0.46172	0.506	T	0.47699	-0.9097	10	0.62326	D	0.03	-10.7605	15.4777	0.75497	1.0:0.0:0.0:0.0	.	29	O96001	PPR17_HUMAN	G	29	ENSP00000340125:D29G	ENSP00000340125:D29G	D	+	2	0	C7orf16	31701611	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	4.687000	0.61708	2.195000	0.70347	0.533000	0.62120	GAT	.	.		0.363	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658	
CDK13	8621	hgsc.bcm.edu	37	7	40102432	40102432	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:40102432T>A	ENST00000181839.4	+	8	3213	c.2608T>A	c.(2608-2610)Tat>Aat	p.Y870N	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.Y870N	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	870	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAGTCGGCCGTATACTAACAA	0.388																																					p.Y870N		Atlas-SNP	.											.	CDK13	114	.	0			c.T2608A						.						291.0	309.0	303.0					7																	40102432		2203	4300	6503	SO:0001583	missense	8621	exon8			CGGCCGTATACTA	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2608T>A	chr7.hg19:g.40102432T>A	ENSP00000181839:p.Tyr870Asn	95.0	0.0		48.0	6.0	NM_003718	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	hg19	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	.	18.49	3.634836	0.67130	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.45276	0.9;0.9	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.59783	0.2219	L	0.55017	1.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.989	T	0.58115	-0.7693	8	.	.	.	-8.5737	15.6901	0.77442	0.0:0.0:0.0:1.0	.	256;870;870	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	N	870	ENSP00000181839:Y870N;ENSP00000340557:Y870N	.	Y	+	1	0	CDK13	40068957	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.252000	0.72447	2.172000	0.68678	0.460000	0.39030	TAT	.	.		0.388	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
COA1	55744	hgsc.bcm.edu	37	7	43684913	43684913	+	Silent	SNP	A	A	G	rs564919110		TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:43684913A>G	ENST00000395879.1	-	3	1882	c.201T>C	c.(199-201)ccT>ccC	p.P67P	COA1_ENST00000223336.6_Silent_p.P67P|COA1_ENST00000395880.3_Silent_p.P67P|COA1_ENST00000310564.6_Silent_p.P67P			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)	67					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											GGATGTTGAGAGGAGGGCCCA	0.517													A|||	1	0.000199681	0.0	0.0	5008	,	,		15099	0.0		0.0	False		,,,				2504	0.001				p.P67P		Atlas-SNP	.											.	.	.	.	0			c.T201C						.						98.0	77.0	84.0					7																	43684913		2203	4300	6503	SO:0001819	synonymous_variant	55744	exon4			GTTGAGAGGAGGG	AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"""Mitochondrial respiratory chain complex assembly factors"""	21868	protein-coding gene	gene with protein product		614769	"""chromosome 7 open reading frame 44"""	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.201T>C	chr7.hg19:g.43684913A>G		78.0	0.0		76.0	26.0	NM_018224	A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Silent	SNP	ENST00000395879.1	hg19	CCDS5471.1																																																																																			.	.		0.517	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1	NM_018224	
TNS3	64759	hgsc.bcm.edu	37	7	47476876	47476876	+	Silent	SNP	C	C	T	rs376868413		TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:47476876C>T	ENST00000398879.1	-	7	552	c.186G>A	c.(184-186)acG>acA	p.T62T	TNS3_ENST00000355730.3_Silent_p.T62T|TNS3_ENST00000311160.9_Silent_p.T62T|TNS3_ENST00000442536.2_Silent_p.T62T|TNS3_ENST00000458317.2_Silent_p.T62T			Q68CZ2	TENS3_HUMAN	tensin 3	62	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGTTAAGCTTCGTAAGGTCAT	0.269																																					p.T62T		Atlas-SNP	.											.	TNS3	140	.	0			c.G186A						.	C		1,3603		0,1,1801	68.0	68.0	68.0		186	-8.9	0.1	7		68	0,8130		0,0,4065	no	coding-synonymous	TNS3	NM_022748.11		0,1,5866	TT,TC,CC		0.0,0.0277,0.0085		62/1446	47476876	1,11733	1802	4065	5867	SO:0001819	synonymous_variant	64759	exon7			AAGCTTCGTAAGG	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.186G>A	chr7.hg19:g.47476876C>T		229.0	0.0		203.0	68.0	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	hg19	CCDS5506.2																																																																																			.	.		0.269	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
ABCA13	154664	hgsc.bcm.edu	37	7	48327638	48327638	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:48327638C>T	ENST00000435803.1	+	20	8942	c.8918C>T	c.(8917-8919)gCt>gTt	p.A2973V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2973					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						ATTTTATCTGCTATACAAGGG	0.443																																					p.A2973V		Atlas-SNP	.											.	ABCA13	1192	.	0			c.C8918T						.						175.0	170.0	172.0					7																	48327638		1861	4109	5970	SO:0001583	missense	154664	exon20			TATCTGCTATACA	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.8918C>T	chr7.hg19:g.48327638C>T	ENSP00000411096:p.Ala2973Val	62.0	0.0		67.0	12.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	9.528	1.110158	0.20714	.	.	ENSG00000179869	ENST00000435803	D	0.86164	-2.08	5.63	2.54	0.30619	.	0.351640	0.20494	N	0.091221	T	0.72053	0.3413	N	0.11201	0.11	0.09310	N	1	B;B	0.17852	0.004;0.024	B;B	0.15052	0.006;0.012	T	0.62613	-0.6817	10	0.87932	D	0	.	5.2919	0.15731	0.0:0.4:0.0:0.6	.	675;2973	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	V	2973	ENSP00000411096:A2973V	ENSP00000411096:A2973V	A	+	2	0	ABCA13	48298184	0.000000	0.05858	0.003000	0.11579	0.528000	0.34623	0.059000	0.14322	0.266000	0.21894	0.591000	0.81541	GCT	.	.		0.443	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
CACNA2D1	781	hgsc.bcm.edu	37	7	81591327	81591327	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:81591327T>C	ENST00000356253.5	-	36	3140	c.2885A>G	c.(2884-2886)gAt>gGt	p.D962G	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D950G|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D162G			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	962					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GAAGTCATCATCCTCCATCTC	0.483																																					p.D950G		Atlas-SNP	.											.	CACNA2D1	191	.	0			c.A2849G						.						114.0	107.0	109.0					7																	81591327		2203	4300	6503	SO:0001583	missense	781	exon36			TCATCATCCTCCA	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2885A>G	chr7.hg19:g.81591327T>C	ENSP00000348589:p.Asp962Gly	79.0	0.0		55.0	13.0	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	hg19		.	.	.	.	.	.	.	.	.	.	T	13.98	2.398645	0.42512	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.69306	-0.39;-0.39;-0.39	5.19	5.19	0.71726	.	0.308729	0.38778	N	0.001563	T	0.77598	0.4154	M	0.73962	2.25	0.47511	D	0.999444	D;B	0.52996	0.957;0.001	P;B	0.58577	0.841;0.012	T	0.76061	-0.3097	10	0.27082	T	0.32	-9.0925	15.3769	0.74615	0.0:0.0:0.0:1.0	.	162;950	B7Z658;P54289-2	.;.	G	950;969;962;162	ENSP00000349320:D950G;ENSP00000348589:D962G;ENSP00000443124:D162G	ENSP00000284088:D969G	D	-	2	0	CACNA2D1	81429263	1.000000	0.71417	0.438000	0.26821	0.924000	0.55760	5.186000	0.65082	2.093000	0.63338	0.529000	0.55759	GAT	.	.		0.483	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
PCLO	27445	hgsc.bcm.edu	37	7	82585807	82585807	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:82585807G>A	ENST00000333891.9	-	5	4799	c.4462C>T	c.(4462-4464)Cct>Tct	p.P1488S	PCLO_ENST00000423517.2_Missense_Mutation_p.P1488S	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						TTGCTGGAAGGAATATCTTGT	0.348																																					p.P1488S		Atlas-SNP	.											.	PCLO	1506	.	0			c.C4462T						.						112.0	103.0	106.0					7																	82585807		1845	4086	5931	SO:0001583	missense	27445	exon5			TGGAAGGAATATC	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.4462C>T	chr7.hg19:g.82585807G>A	ENSP00000334319:p.Pro1488Ser	50.0	0.0		49.0	14.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	0.373	-0.933117	0.02359	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.14893	2.47;2.48	5.43	3.64	0.41730	.	.	.	.	.	T	0.15912	0.0383	L	0.42245	1.32	0.09310	N	0.999999	B;B	0.16802	0.008;0.019	B;B	0.10450	0.003;0.005	T	0.19582	-1.0301	9	0.87932	D	0	.	8.8127	0.34976	0.2549:0.0:0.7451:0.0	.	1488;1488	Q9Y6V0-5;Q9Y6V0-6	.;.	S	1419;1488;1488	ENSP00000334319:P1488S;ENSP00000388393:P1488S	ENSP00000334319:P1488S	P	-	1	0	PCLO	82423743	0.980000	0.34600	0.064000	0.19789	0.087000	0.18053	1.903000	0.39858	0.691000	0.31592	-0.141000	0.14075	CCT	.	.		0.348	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PIK3CG	5294	hgsc.bcm.edu	37	7	106509974	106509974	+	Silent	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:106509974T>C	ENST00000359195.3	+	2	2278	c.1968T>C	c.(1966-1968)gtT>gtC	p.V656V	PIK3CG_ENST00000440650.2_Silent_p.V656V|PIK3CG_ENST00000496166.1_Silent_p.V656V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	656	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						acgatgatgttctgcattacc	0.438																																					p.V656V		Atlas-SNP	.											.	PIK3CG	279	.	0			c.T1968C						.						23.0	21.0	22.0					7																	106509974		2202	4296	6498	SO:0001819	synonymous_variant	5294	exon2			TGATGTTCTGCAT		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1968T>C	chr7.hg19:g.106509974T>C		86.0	0.0		77.0	19.0	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	hg19	CCDS5739.1																																																																																			.	.		0.438	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
PTPRZ1	5803	hgsc.bcm.edu	37	7	121651010	121651010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:121651010C>A	ENST00000393386.2	+	12	2321	c.1910C>A	c.(1909-1911)tCa>tAa	p.S637*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.S637*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	637					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCAACTTCATCAGGTTCAGAA	0.423																																					p.S637X		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.C1910A						.						59.0	57.0	58.0					7																	121651010		2203	4300	6503	SO:0001587	stop_gained	5803	exon12			CTTCATCAGGTTC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1910C>A	chr7.hg19:g.121651010C>A	ENSP00000377047:p.Ser637*	129.0	0.0		102.0	34.0	NM_001206838	A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	38	6.968175	0.97971	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.87	5.87	0.94306	.	0.445946	0.21442	N	0.074476	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4091	0.60931	0.0:0.9283:0.0:0.0717	.	.	.	.	X	637	.	ENSP00000377047:S637X	S	+	2	0	PTPRZ1	121438246	0.897000	0.30589	0.925000	0.36789	0.816000	0.46133	3.118000	0.50414	2.778000	0.95560	0.655000	0.94253	TCA	.	.		0.423	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
MGAM	8972	hgsc.bcm.edu	37	7	141762461	141762461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr7:141762461C>T	ENST00000549489.2	+	35	4311	c.4216C>T	c.(4216-4218)Cag>Tag	p.Q1406*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.Q1406*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1406	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAACAATCCACAGAATCCAGA	0.428																																					p.Q1406X		Atlas-SNP	.											.	MGAM	767	.	0			c.C4216T						.						73.0	66.0	68.0					7																	141762461		1852	4079	5931	SO:0001587	stop_gained	8972	exon35			AATCCACAGAATC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4216C>T	chr7.hg19:g.141762461C>T	ENSP00000447378:p.Gln1406*	312.0	0.0		285.0	77.0	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	hg19	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	40	8.484316	0.98832	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	4.04	-0.7	0.11273	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.9582	0.30055	0.2777:0.3081:0.4142:0.0	.	.	.	.	X	1406;1406;1283	.	ENSP00000316431:Q1283X	Q	+	1	0	MGAM	141408930	0.000000	0.05858	0.005000	0.12908	0.746000	0.42486	-1.044000	0.03532	-0.143000	0.11334	0.306000	0.20318	CAG	.	.		0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
CALB1	793	hgsc.bcm.edu	37	8	91094273	91094273	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr8:91094273G>T	ENST00000265431.3	-	2	318	c.137C>A	c.(136-138)gCg>gAg	p.A46E	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	46	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTCTTTCGCGCCTGCTGGAG	0.443																																					p.A46E	Melanoma(46;573 1182 27367 39727 48386)	Atlas-SNP	.											.	CALB1	25	.	0			c.C137A						.						114.0	121.0	118.0					8																	91094273		2203	4300	6503	SO:0001583	missense	793	exon2			TTTCGCGCCTGCT		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.137C>A	chr8.hg19:g.91094273G>T	ENSP00000265431:p.Ala46Glu	60.0	0.0		53.0	28.0	NM_004929	B2R696|B7Z9J4	Missense_Mutation	SNP	ENST00000265431.3	hg19	CCDS6251.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916510	0.73098	.	.	ENSG00000104327	ENST00000265431	D	0.90261	-2.64	5.48	5.48	0.80851	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	M	0.62723	1.935	0.80722	D	1	P	0.38370	0.628	P	0.49085	0.6	D	0.87147	0.2206	10	0.06099	T	0.92	-11.4282	16.6292	0.85029	0.0:0.0:1.0:0.0	.	46	P05937	CALB1_HUMAN	E	46	ENSP00000265431:A46E	ENSP00000265431:A46E	A	-	2	0	CALB1	91163449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.344000	0.72991	2.744000	0.94065	0.563000	0.77884	GCG	.	.		0.443	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929	
TSNARE1	203062	hgsc.bcm.edu	37	8	143427217	143427217	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr8:143427217T>C	ENST00000307180.3	-	3	242	c.125A>G	c.(124-126)cAt>cGt	p.H42R	TSNARE1_ENST00000520166.1_Missense_Mutation_p.H42R|TSNARE1_ENST00000524325.1_Missense_Mutation_p.H42R|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	42					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCAGGGGAAATGGCGGATTCC	0.617																																					p.H42R		Atlas-SNP	.											.	TSNARE1	59	.	0			c.A125G						.						138.0	110.0	119.0					8																	143427217		2203	4300	6503	SO:0001583	missense	203062	exon3			GGGAAATGGCGGA			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.125A>G	chr8.hg19:g.143427217T>C	ENSP00000303437:p.His42Arg	42.0	0.0		46.0	27.0	NM_145003	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	hg19	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977061	0.53720	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000520462;ENST00000518720	T;T;T;T;T	0.30981	2.45;2.44;2.45;1.58;1.51	2.62	1.42	0.22433	.	0.725519	0.10837	U	0.628625	T	0.27384	0.0672	L	0.29908	0.895	0.21473	N	0.999678	D;D;D	0.53885	0.963;0.963;0.963	P;P;P	0.49421	0.61;0.61;0.61	T	0.12967	-1.0527	10	0.87932	D	0	-2.6256	5.6733	0.17735	0.0:0.0:0.2832:0.7168	.	42;42;42	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	R	42;42;42;42;58	ENSP00000428763:H42R;ENSP00000303437:H42R;ENSP00000427770:H42R;ENSP00000429626:H42R;ENSP00000430789:H58R	ENSP00000303437:H42R	H	-	2	0	TSNARE1	143425124	0.967000	0.33354	0.897000	0.35233	0.995000	0.86356	0.452000	0.21795	0.401000	0.25424	0.528000	0.53228	CAT	.	.		0.617	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003	
PLEC	5339	hgsc.bcm.edu	37	8	144993679	144993679	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr8:144993679C>T	ENST00000322810.4	-	32	10890	c.10721G>A	c.(10720-10722)aGa>aAa	p.R3574K	PLEC_ENST00000345136.3_Missense_Mutation_p.R3437K|PLEC_ENST00000356346.3_Missense_Mutation_p.R3423K|PLEC_ENST00000527096.1_Missense_Mutation_p.R3460K|PLEC_ENST00000398774.2_Missense_Mutation_p.R3405K|PLEC_ENST00000436759.2_Missense_Mutation_p.R3464K|PLEC_ENST00000354589.3_Missense_Mutation_p.R3437K|PLEC_ENST00000354958.2_Missense_Mutation_p.R3415K|PLEC_ENST00000357649.2_Missense_Mutation_p.R3441K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3574	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTAGGGGTCTCTGTAGCCGGT	0.672																																					p.R3574K		Atlas-SNP	.											.	PLEC	1144	.	0			c.G10721A						.						38.0	45.0	43.0					8																	144993679		1984	4156	6140	SO:0001583	missense	5339	exon32			GGGTCTCTGTAGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10721G>A	chr8.hg19:g.144993679C>T	ENSP00000323856:p.Arg3574Lys	41.0	0.0		63.0	11.0	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.519	0.280777	0.10458	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.03	-4.09	0.03951	.	0.171407	0.35495	N	0.003174	T	0.18467	0.0443	N	0.00633	-1.31	0.22240	N	0.999269	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.39542	-0.9609	10	0.02654	T	1	.	7.8396	0.29391	0.0:0.1366:0.4754:0.388	.	3464;3423;3415;3574;3405;3437;3441;3437	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3437;3441;3437;3405;3574;3415;3423;3464;3460	ENSP00000344848:R3437K;ENSP00000350277:R3441K;ENSP00000346602:R3437K;ENSP00000381756:R3405K;ENSP00000323856:R3574K;ENSP00000347044:R3415K;ENSP00000348702:R3423K;ENSP00000388180:R3464K;ENSP00000434583:R3460K	ENSP00000323856:R3574K	R	-	2	0	PLEC	145065667	0.310000	0.24527	0.141000	0.22245	0.016000	0.09150	0.493000	0.22451	-0.925000	0.03775	-0.404000	0.06349	AGA	.	.		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
CPSF1	29894	hgsc.bcm.edu	37	8	145619689	145619689	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr8:145619689T>C	ENST00000349769.3	-	32	3743	c.3649A>G	c.(3649-3651)Agc>Ggc	p.S1217G	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1217					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTCTTGACGCTGATCATCTGG	0.602																																					p.S1217G	NSCLC(133;1088 1848 27708 34777 35269)	Atlas-SNP	.											.	CPSF1	92	.	0			c.A3649G						.						31.0	26.0	28.0					8																	145619689		2199	4299	6498	SO:0001583	missense	29894	exon32			TGACGCTGATCAT	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3649A>G	chr8.hg19:g.145619689T>C	ENSP00000339353:p.Ser1217Gly	93.0	0.0		139.0	70.0	NM_013291	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	hg19	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381571	0.61845	.	.	ENSG00000071894	ENST00000349769	T	0.49139	0.79	4.57	4.57	0.56435	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	L	0.58969	1.84	0.80722	D	1	P	0.40660	0.726	P	0.46510	0.519	T	0.49688	-0.8913	9	.	.	.	-44.2082	12.1733	0.54172	0.0:0.0:0.0:1.0	.	1217	Q10570	CPSF1_HUMAN	G	1217	ENSP00000339353:S1217G	.	S	-	1	0	CPSF1	145590497	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.809000	0.62591	1.843000	0.53566	0.459000	0.35465	AGC	.	.		0.602	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
TEK	7010	hgsc.bcm.edu	37	9	27157869	27157869	+	Silent	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr9:27157869C>T	ENST00000380036.4	+	2	535	c.93C>T	c.(91-93)tcC>tcT	p.S31S	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Silent_p.S31S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	31					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGATCAATTCCCTACCTCTTG	0.458																																					p.S31S		Atlas-SNP	.											.	TEK	250	.	0			c.C93T						.						208.0	176.0	187.0					9																	27157869		2203	4300	6503	SO:0001819	synonymous_variant	7010	exon2			CAATTCCCTACCT	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.93C>T	chr9.hg19:g.27157869C>T		96.0	0.0		92.0	30.0	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	hg19	CCDS6519.1																																																																																			.	.		0.458	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
C9orf131	138724	hgsc.bcm.edu	37	9	35045263	35045263	+	Silent	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr9:35045263G>A	ENST00000312292.5	+	2	2684	c.2637G>A	c.(2635-2637)agG>agA	p.R879R	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Silent_p.R831R|C9orf131_ENST00000354479.5_Silent_p.R806R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	879										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGTCTGGCAGGGCGGAACAAG	0.562																																					p.R879R		Atlas-SNP	.											.	C9orf131	71	.	0			c.G2637A						.						202.0	212.0	209.0					9																	35045263		2203	4300	6503	SO:0001819	synonymous_variant	138724	exon2			TGGCAGGGCGGAA	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2637G>A	chr9.hg19:g.35045263G>A		67.0	0.0		67.0	14.0	NM_203299	A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	hg19	CCDS6572.2																																																																																			.	.		0.562	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
SVEP1	79987	hgsc.bcm.edu	37	9	113192616	113192616	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr9:113192616C>T	ENST00000401783.2	-	33	5804	c.5468G>A	c.(5467-5469)gGa>gAa	p.G1823E	SVEP1_ENST00000297826.5_5'Flank|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1800E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1823	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTTGGTTACTCCCATCAACTG	0.408																																					p.G1823E		Atlas-SNP	.											.	SVEP1	326	.	0			c.G5468A						.						91.0	82.0	84.0					9																	113192616		1880	4113	5993	SO:0001583	missense	79987	exon33			GTTACTCCCATCA	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5468G>A	chr9.hg19:g.113192616C>T	ENSP00000384917:p.Gly1823Glu	86.0	0.0		92.0	23.0	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884774	0.72410	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.72167	-0.63;-0.63	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.048538	0.85682	D	0.000000	D	0.84719	0.5534	H	0.98068	4.14	0.80722	D	1	P	0.42357	0.777	B	0.42738	0.396	D	0.90065	0.4159	10	0.72032	D	0.01	.	19.0978	0.93260	0.0:1.0:0.0:0.0	.	1823	Q4LDE5	SVEP1_HUMAN	E	1823;1800	ENSP00000384917:G1823E;ENSP00000363593:G1800E	ENSP00000363593:G1800E	G	-	2	0	SVEP1	112232437	1.000000	0.71417	0.974000	0.42286	0.573000	0.36030	6.337000	0.72958	2.735000	0.93741	0.655000	0.94253	GGA	.	.		0.408	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PTGR1	22949	hgsc.bcm.edu	37	9	114325430	114325430	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr9:114325430T>C	ENST00000407693.2	-	10	1223	c.961A>G	c.(961-963)Aat>Gat	p.N321D	PTGR1_ENST00000309195.5_Missense_Mutation_p.N321D|PTGR1_ENST00000538962.1_Intron|ZNF483_ENST00000358151.4_Intron	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	321					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTCCCCAAATTATCTCCTTTC	0.353																																					p.N321D	Ovarian(200;132 2151 7551 19220 46064)	Atlas-SNP	.											.	PTGR1	23	.	0			c.A961G						.						161.0	141.0	148.0					9																	114325430		2202	4300	6502	SO:0001583	missense	22949	exon10			CCAAATTATCTCC	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.961A>G	chr9.hg19:g.114325430T>C	ENSP00000385763:p.Asn321Asp	40.0	0.0		33.0	9.0	NM_001146108	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	hg19	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306420	0.81247	.	.	ENSG00000106853	ENST00000309195;ENST00000407693	T;T	0.78707	-1.2;-1.2	5.01	5.01	0.66863	GroES-like (1);	0.000000	0.85682	D	0.000000	D	0.92522	0.7625	H	0.98849	4.35	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	D	0.95122	0.8247	10	0.72032	D	0.01	-18.399	14.0142	0.64515	0.0:0.0:0.0:1.0	.	321	Q14914	PTGR1_HUMAN	D	321	ENSP00000311572:N321D;ENSP00000385763:N321D	ENSP00000311572:N321D	N	-	1	0	PTGR1	113365251	1.000000	0.71417	0.330000	0.25442	0.997000	0.91878	6.863000	0.75489	2.016000	0.59253	0.455000	0.32223	AAT	.	.		0.353	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		
USP20	10868	hgsc.bcm.edu	37	9	132630495	132630495	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr9:132630495G>T	ENST00000315480.4	+	11	1060	c.902G>T	c.(901-903)gGc>gTc	p.G301V	USP20_ENST00000372429.3_Missense_Mutation_p.G301V|USP20_ENST00000358355.1_Missense_Mutation_p.G301V			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	301	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAGGGGCGTGGCGGGGGCAGC	0.642																																					p.G301V		Atlas-SNP	.											.	USP20	186	.	0			c.G902T						.						50.0	62.0	58.0					9																	132630495		2083	4203	6286	SO:0001583	missense	10868	exon11			GGCGTGGCGGGGG	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.902G>T	chr9.hg19:g.132630495G>T	ENSP00000313811:p.Gly301Val	107.0	0.0		98.0	25.0	NM_001008563	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	hg19	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493841	0.26774	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17370	2.28;2.28;2.28	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.812097	0.11437	N	0.564185	T	0.22781	0.0550	L	0.52573	1.65	0.58432	D	0.999999	B	0.21147	0.052	B	0.32677	0.15	T	0.03051	-1.1078	10	0.33141	T	0.24	.	14.1272	0.65228	0.0:0.1623:0.8377:0.0	.	301	Q9Y2K6	UBP20_HUMAN	V	301	ENSP00000361506:G301V;ENSP00000313811:G301V;ENSP00000351122:G301V	ENSP00000313811:G301V	G	+	2	0	USP20	131670316	1.000000	0.71417	0.640000	0.29408	0.480000	0.33159	8.416000	0.90244	2.406000	0.81754	0.561000	0.74099	GGC	.	.		0.642	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		
IL2RA	3559	hgsc.bcm.edu	37	10	6061403	6061403	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr10:6061403A>G	ENST00000379959.3	-	6	888	c.715T>C	c.(715-717)Tac>Cac	p.Y239H	IL2RA_ENST00000379954.1_Missense_Mutation_p.Y167H|SNORA14_ENST00000516113.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.Y230H	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	239					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCTACCTGGTACTCTGTTGTA	0.453																																					p.Y239H		Atlas-SNP	.											.	IL2RA	37	.	0			c.T715C						.						221.0	187.0	199.0					10																	6061403		2203	4300	6503	SO:0001583	missense	3559	exon6			CCTGGTACTCTGT	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.715T>C	chr10.hg19:g.6061403A>G	ENSP00000369293:p.Tyr239His	56.0	0.0		51.0	14.0	NM_000417	Q5W007	Missense_Mutation	SNP	ENST00000379959.3	hg19	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505359	0.26949	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.57107	1.13;0.42;1.23	4.02	2.9	0.33743	.	0.612731	0.14663	N	0.305848	T	0.55641	0.1933	M	0.70275	2.135	0.09310	N	0.999998	D;D;B	0.56968	0.959;0.978;0.266	B;P;B	0.51170	0.425;0.661;0.077	T	0.47535	-0.9110	10	0.41790	T	0.15	-26.2052	5.5242	0.16949	0.8765:0.0:0.1235:0.0	.	167;129;239	Q5W005;E9PF94;P01589	.;.;IL2RA_HUMAN	H	239;129;167;230	ENSP00000369293:Y239H;ENSP00000369287:Y167H;ENSP00000256876:Y230H	ENSP00000256876:Y230H	Y	-	1	0	IL2RA	6101409	0.213000	0.23551	0.190000	0.23270	0.167000	0.22549	0.919000	0.28692	1.803000	0.52742	0.379000	0.24179	TAC	.	.		0.453	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	
TMEM72	643236	hgsc.bcm.edu	37	10	45429084	45429084	+	Splice_Site	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr10:45429084G>T	ENST00000544540.1	+	3	339		c.e3-1		TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CCTCTCCCCAGGTGTCAACCA	0.607																																					.		Atlas-SNP	.											.	TMEM72	25	.	0			c.210-1G>T						.						59.0	60.0	59.0					10																	45429084		1568	3582	5150	SO:0001630	splice_region_variant	643236	exon4			TCCCCAGGTGTCA	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.-145-1G>T	chr10.hg19:g.45429084G>T		43.0	0.0		43.0	13.0	NM_001123376	A1L181|Q5T740	Splice_Site	SNP	ENST00000544540.1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.78	1.447607	0.26074	.	.	ENSG00000187783	ENST00000389583	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4359	0.75146	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM72	44749090	1.000000	0.71417	0.999000	0.59377	0.127000	0.20565	6.353000	0.73032	2.788000	0.95919	0.650000	0.86243	.	.	.		0.607	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376	Intron
PCDH15	65217	hgsc.bcm.edu	37	10	56077047	56077047	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr10:56077047G>T	ENST00000320301.6	-	8	1254	c.860C>A	c.(859-861)cCt>cAt	p.P287H	PCDH15_ENST00000361849.3_Missense_Mutation_p.P287H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P292H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P265H|PCDH15_ENST00000395446.1_Missense_Mutation_p.P287H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P287H|PCDH15_ENST00000373965.2_Missense_Mutation_p.P287H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P250H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P287H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P287H|PCDH15_ENST00000395440.1_Missense_Mutation_p.P287H|PCDH15_ENST00000395442.1_Missense_Mutation_p.P287H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P287H|PCDH15_ENST00000373955.1_Missense_Mutation_p.P287H|PCDH15_ENST00000373957.3_Missense_Mutation_p.P265H|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	287	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCAACTCAGGTATGGCAGC	0.398										HNSCC(58;0.16)																											p.P292H		Atlas-SNP	.											.	PCDH15	1715	.	0			c.C875A						.						113.0	101.0	105.0					10																	56077047		2203	4300	6503	SO:0001583	missense	65217	exon9			AACTCAGGTATGG	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.860C>A	chr10.hg19:g.56077047G>T	ENSP00000322604:p.Pro287His	113.0	0.0		100.0	10.0	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739327	0.49045	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59364	0.4;0.43;0.35;0.37;0.42;0.66;0.51;0.39;0.27;0.32;0.27;0.27;0.27;0.29;0.44	4.77	4.77	0.60923	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.75547	0.3864	M	0.73217	2.22	0.50039	D	0.99984	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;0.972;0.988;0.999	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.91635	0.999;0.976;0.971;0.96;0.971;0.976;0.999;0.957;0.971;0.94;0.947;0.971;0.89;0.823;0.96	T	0.78001	-0.2375	9	0.56958	D	0.05	.	17.7447	0.88416	0.0:0.0:1.0:0.0	.	265;287;287;292;287;250;287;287;287;287;287;292;287;265;287	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	287;292;287;287;287;287;287;287;250;287;265;265;287;287;292;287;287	ENSP00000363076:P287H;ENSP00000410304:P292H;ENSP00000378826:P287H;ENSP00000378832:P287H;ENSP00000378833:P287H;ENSP00000378829:P287H;ENSP00000378827:P287H;ENSP00000378820:P250H;ENSP00000354950:P287H;ENSP00000378821:P265H;ENSP00000363068:P265H;ENSP00000322604:P287H;ENSP00000378818:P287H;ENSP00000412628:P287H;ENSP00000363066:P287H	ENSP00000322604:P287H	P	-	2	0	PCDH15	55747053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.798000	0.55522	2.346000	0.79739	0.557000	0.71058	CCT	.	.		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
H2AFY2	55506	hgsc.bcm.edu	37	10	71855484	71855484	+	Silent	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr10:71855484C>T	ENST00000373255.4	+	6	927	c.663C>T	c.(661-663)gcC>gcT	p.A221A		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	221	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAACCACAGCCGAAATTGACC	0.468																																					p.A221A		Atlas-SNP	.											.	H2AFY2	30	.	0			c.C663T						.						110.0	101.0	104.0					10																	71855484		2203	4300	6503	SO:0001819	synonymous_variant	55506	exon6			CACAGCCGAAATT	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.663C>T	chr10.hg19:g.71855484C>T		87.0	0.0		103.0	20.0	NM_018649	Q5SQT2	Silent	SNP	ENST00000373255.4	hg19	CCDS7296.1																																																																																			.	.		0.468	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649	
COL17A1	1308	hgsc.bcm.edu	37	10	105792488	105792488	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr10:105792488G>T	ENST00000353479.5	-	55	4672	c.4382C>A	c.(4381-4383)cCa>cAa	p.P1461Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.P1379Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1461	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGATGACCTGGTGGCCCAGC	0.572																																					p.P1461Q		Atlas-SNP	.											.	COL17A1	149	.	0			c.C4382A						.						68.0	60.0	63.0					10																	105792488		2203	4300	6503	SO:0001583	missense	1308	exon55			TGACCTGGTGGCC	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4382C>A	chr10.hg19:g.105792488G>T	ENSP00000340937:p.Pro1461Gln	51.0	0.0		44.0	13.0	NM_000494	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	hg19	CCDS7554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.003229|3.003229	0.54254|0.54254	.|.	.|.	ENSG00000065618|ENSG00000065618	ENST00000353479;ENST00000369733|ENST00000433822	D;D|.	0.93366|.	-3.21;-3.21|.	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	0.341445|.	0.20569|.	N|.	0.089762|.	T|T	0.61388|0.61388	0.2343|0.2343	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	P|.	0.47841|.	0.901|.	P|.	0.49047|.	0.599|.	T|T	0.58769|0.58769	-0.7578|-0.7578	10|5	0.20046|.	T|.	0.44|.	-1.9356|-1.9356	14.3798|14.3798	0.66905|0.66905	0.0:0.2035:0.7965:0.0|0.0:0.2035:0.7965:0.0	rs34425293|rs34425293	1461|.	Q9UMD9|.	COHA1_HUMAN|.	Q|K	1461;1379|30	ENSP00000340937:P1461Q;ENSP00000358748:P1379Q|.	ENSP00000340937:P1461Q|.	P|Q	-|-	2|1	0|0	COL17A1|COL17A1	105782478|105782478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	4.696000|4.696000	0.61774|0.61774	1.625000|1.625000	0.50366|0.50366	0.655000|0.655000	0.94253|0.94253	CCA|CAG	.	.		0.572	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
SORCS3	22986	hgsc.bcm.edu	37	10	106937875	106937875	+	Silent	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr10:106937875T>A	ENST00000369701.3	+	14	2180	c.1953T>A	c.(1951-1953)gtT>gtA	p.V651V	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	651					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCACTTCGGTTCCTCTCTTTG	0.473																																					p.V651V	NSCLC(116;1497 1690 7108 13108 14106)	Atlas-SNP	.											.	SORCS3	282	.	0			c.T1953A						.						232.0	199.0	210.0					10																	106937875		2203	4300	6503	SO:0001819	synonymous_variant	22986	exon14			TTCGGTTCCTCTC	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1953T>A	chr10.hg19:g.106937875T>A		104.0	0.0		92.0	7.0	NM_014978	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	hg19	CCDS7558.1																																																																																			.	.		0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
MKI67	4288	hgsc.bcm.edu	37	10	129900917	129900917	+	Missense_Mutation	SNP	C	C	T	rs542413191		TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr10:129900917C>T	ENST00000368654.3	-	13	9562	c.9187G>A	c.(9187-9189)Gaa>Aaa	p.E3063K	MKI67_ENST00000368653.3_Missense_Mutation_p.E2703K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3063					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCAGCTCTTCCGCAGGTTCA	0.458																																					p.E3063K		Atlas-SNP	.											.	MKI67	363	.	0			c.G9187A						.						249.0	226.0	234.0					10																	129900917		2203	4300	6503	SO:0001583	missense	4288	exon13			GCTCTTCCGCAGG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9187G>A	chr10.hg19:g.129900917C>T	ENSP00000357643:p.Glu3063Lys	83.0	0.0		55.0	22.0	NM_002417	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530756	0.27387	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02323	4.38;4.34	3.55	3.55	0.40652	.	2.393500	0.01685	N	0.026352	T	0.04048	0.0113	L	0.29908	0.895	0.09310	N	1	P;P;D	0.54207	0.801;0.718;0.965	B;B;B	0.43018	0.405;0.277;0.337	T	0.40001	-0.9586	10	0.21014	T	0.42	.	10.8089	0.46535	0.0:1.0:0.0:0.0	.	3062;2703;3063	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	3063;2703;3062	ENSP00000357643:E3063K;ENSP00000357642:E2703K	ENSP00000357642:E2703K	E	-	1	0	MKI67	129790907	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.553000	0.36255	1.972000	0.57404	0.563000	0.77884	GAA	.	.		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MUC6	4588	hgsc.bcm.edu	37	11	1017614	1017614	+	Silent	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:1017614G>A	ENST00000421673.2	-	31	5237	c.5187C>T	c.(5185-5187)acC>acT	p.T1729T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1729	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1729T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCCACTGGTGGTCACTGTCA	0.537																																					p.T1729T		Atlas-SNP	.											MUC6_ENST00000421673,NS,carcinoma,0,2	MUC6	408	.	2	Substitution - coding silent(2)	kidney(2)	c.C5187T						.						426.0	437.0	433.0					11																	1017614		2178	4264	6442	SO:0001819	synonymous_variant	4588	exon31			ACTGGTGGTCACT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5187C>T	chr11.hg19:g.1017614G>A		143.0	0.0		139.0	19.0	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	hg19	CCDS44513.1																																																																																			.	.		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
OR51G1	79324	hgsc.bcm.edu	37	11	4944735	4944735	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:4944735A>G	ENST00000321961.2	-	1	902	c.835T>C	c.(835-837)Tcc>Ccc	p.S279P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACACATAGGACATGAAGAGG	0.463																																					p.S279P		Atlas-SNP	.											.	OR51G1	74	.	0			c.T835C						.						201.0	173.0	182.0					11																	4944735		2201	4298	6499	SO:0001583	missense	79324	exon1			CATAGGACATGAA	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.835T>C	chr11.hg19:g.4944735A>G	ENSP00000322546:p.Ser279Pro	101.0	0.0		74.0	24.0	NM_001005237	B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	hg19	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550430	0.45383	.	.	ENSG00000176879	ENST00000321961	T	0.00274	8.35	4.53	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37136	U	0.002221	T	0.00666	0.0022	M	0.87971	2.92	0.26289	N	0.978153	D	0.76494	0.999	D	0.77557	0.99	T	0.20371	-1.0277	10	0.87932	D	0	.	11.0382	0.47814	0.5855:0.4145:0.0:0.0	.	279	Q8NGK1	O51G1_HUMAN	P	279	ENSP00000322546:S279P	ENSP00000322546:S279P	S	-	1	0	OR51G1	4901311	0.000000	0.05858	1.000000	0.80357	0.662000	0.39071	-0.048000	0.11944	0.735000	0.32537	0.455000	0.32223	TCC	.	.		0.463	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
OR6A2	8590	hgsc.bcm.edu	37	11	6816411	6816411	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:6816411T>A	ENST00000332601.3	-	1	717	c.529A>T	c.(529-531)Aac>Tac	p.N177Y		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGATGATGTTGGGGCCACAG	0.483																																					p.N177Y		Atlas-SNP	.											.	OR6A2	68	.	0			c.A529T						.						122.0	124.0	123.0					11																	6816411		2201	4296	6497	SO:0001583	missense	8590	exon1			TGATGTTGGGGCC	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.529A>T	chr11.hg19:g.6816411T>A	ENSP00000330384:p.Asn177Tyr	79.0	0.0		66.0	10.0	NM_003696	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	hg19	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986157	0.53934	.	.	ENSG00000184933	ENST00000332601	T	0.00262	8.4	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.094954	0.45606	D	0.000348	T	0.00580	0.0019	M	0.82923	2.615	0.29716	N	0.839044	D	0.89917	1.0	D	0.77557	0.99	T	0.29731	-1.0002	10	0.87932	D	0	.	12.9235	0.58245	0.0:0.0:0.0:1.0	.	177	O95222	OR6A2_HUMAN	Y	177	ENSP00000330384:N177Y	ENSP00000330384:N177Y	N	-	1	0	OR6A2	6772987	0.000000	0.05858	1.000000	0.80357	0.844000	0.47949	0.235000	0.17948	2.219000	0.72066	0.533000	0.62120	AAC	.	.		0.483	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696	
PRDM11	56981	hgsc.bcm.edu	37	11	45203392	45203392	+	Silent	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:45203392G>T	ENST00000530656.1	+	2	177	c.177G>T	c.(175-177)acG>acT	p.T59T	PRDM11_ENST00000424263.2_Silent_p.T25T|PRDM11_ENST00000263765.4_Silent_p.T59T			Q9NQV5	PRD11_HUMAN	PR domain containing 11	59				KTEVCSPLRD -> NPS (in Ref. 1; AAF87244). {ECO:0000305}.			methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TGGTGAAGACGGAGGTCTGCT	0.622																																					p.T25T	NSCLC(118;1511 1736 6472 36603 43224)	Atlas-SNP	.											.	PRDM11	53	.	0			c.G75T						.						80.0	66.0	71.0					11																	45203392		2203	4299	6502	SO:0001819	synonymous_variant	56981	exon2			GAAGACGGAGGTC	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.177G>T	chr11.hg19:g.45203392G>T		34.0	0.0		48.0	18.0	NM_001256695	Q8N9F1	Silent	SNP	ENST00000530656.1	hg19																																																																																				.	.		0.622	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229	
MAPK8IP1	9479	hgsc.bcm.edu	37	11	45926375	45926375	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:45926375A>T	ENST00000241014.2	+	9	2053	c.1883A>T	c.(1882-1884)cAg>cTg	p.Q628L	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.Q618L|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	628	Interaction with VRK2.|PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GATGACTCCCAGGAGGCCAAG	0.612																																					p.Q628L		Atlas-SNP	.											.	MAPK8IP1	51	.	0			c.A1883T						.						98.0	109.0	105.0					11																	45926375		2203	4299	6502	SO:0001583	missense	9479	exon9			ACTCCCAGGAGGC		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1883A>T	chr11.hg19:g.45926375A>T	ENSP00000241014:p.Gln628Leu	54.0	0.0		51.0	17.0	NM_005456	D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	hg19	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898349	0.33535	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.36878	1.23;1.23	5.31	2.94	0.34122	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.634090	0.16941	N	0.193268	T	0.18045	0.0433	N	0.12182	0.205	0.33274	D	0.561386	B	0.02656	0.0	B	0.08055	0.003	T	0.18398	-1.0338	10	0.23891	T	0.37	-14.8606	6.6442	0.22927	0.5938:0.1517:0.0:0.2545	.	628	Q9UQF2	JIP1_HUMAN	L	628;618	ENSP00000241014:Q628L;ENSP00000378991:Q618L	ENSP00000241014:Q628L	Q	+	2	0	MAPK8IP1	45882951	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.016000	0.40971	0.440000	0.26502	0.459000	0.35465	CAG	.	.		0.612	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456	
OR9G1	390174	hgsc.bcm.edu	37	11	56468271	56468271	+	Silent	SNP	C	C	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:56468271C>A	ENST00000312153.1	+	1	408	c.408C>A	c.(406-408)tcC>tcA	p.S136S		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGGCCATGTCCATAAAGCTGT	0.507																																					p.S136S		Atlas-SNP	.											.	.	.	.	0			c.C408A						.						198.0	183.0	188.0					11																	56468271		2201	4296	6497	SO:0001819	synonymous_variant	504191	exon1			CATGTCCATAAAG	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.408C>A	chr11.hg19:g.56468271C>A		125.0	0.0		101.0	15.0	NM_001013358	Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	hg19	CCDS31536.1																																																																																			.	.		0.507	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213	
EHD1	10938	hgsc.bcm.edu	37	11	64627602	64627602	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:64627602T>C	ENST00000320631.3	-	3	963	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	EHD1_ENST00000359393.2_Missense_Mutation_p.M237V	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	237	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGGGACCACATGAGGGCCCCG	0.602																																					p.M237V		Atlas-SNP	.											.	EHD1	31	.	0			c.A709G						.						100.0	98.0	99.0					11																	64627602		2201	4297	6498	SO:0001583	missense	10938	exon3			ACCACATGAGGGC	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.709A>G	chr11.hg19:g.64627602T>C	ENSP00000320516:p.Met237Val	151.0	0.0		130.0	43.0	NM_006795	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	hg19	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706035	0.89018	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	H	0.94771	3.58	0.80722	D	1	P;P	0.51147	0.942;0.942	P;P	0.50537	0.643;0.643	D	0.97515	1.0069	10	0.87932	D	0	-63.5857	12.823	0.57704	0.0:0.0:0.0:1.0	.	237;237	B2R5U3;Q9H4M9	.;EHD1_HUMAN	V	237;237;213;251;101;251;101	ENSP00000320516:M237V;ENSP00000352354:M237V;ENSP00000391429:M101V;ENSP00000404944:M251V;ENSP00000396273:M101V	ENSP00000320516:M237V	M	-	1	0	EHD1	64384178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.803000	0.85983	2.132000	0.65825	0.459000	0.35465	ATG	.	.		0.602	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795	
EHBP1L1	254102	hgsc.bcm.edu	37	11	65351982	65351982	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:65351982A>T	ENST00000309295.4	+	11	3542	c.3277A>T	c.(3277-3279)Aac>Tac	p.N1093Y		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1093	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGACCCACTCAACATCAAGCA	0.587																																					p.N1093Y		Atlas-SNP	.											.	EHBP1L1	64	.	0			c.A3277T						.						31.0	34.0	33.0					11																	65351982		2137	4236	6373	SO:0001583	missense	254102	exon11			CCACTCAACATCA	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3277A>T	chr11.hg19:g.65351982A>T	ENSP00000312671:p.Asn1093Tyr	79.0	0.0		75.0	32.0	NM_001099409	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	hg19	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.30|19.30	3.800612|3.800612	0.70567|0.70567	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295;ENST00000533237|ENST00000533465	D;D|.	0.95171|.	-3.63;-3.63|.	5.31|5.31	1.78|1.78	0.24846|0.24846	Calponin homology domain (5);|.	0.063230|.	0.64402|.	D|.	0.000015|.	T|T	0.73110|0.73110	0.3545|0.3545	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.98|.	D;P|.	0.72075|.	0.976;0.814|.	T|T	0.70890|0.70890	-0.4749|-0.4749	10|5	0.87932|.	D|.	0|.	.|.	6.9188|6.9188	0.24376|0.24376	0.6358:0.0:0.3642:0.0|0.6358:0.0:0.3642:0.0	.|.	510;1093|.	E9PIH6;Q8N3D4|.	.;EH1L1_HUMAN|.	Y|L	1093;510|142	ENSP00000312671:N1093Y;ENSP00000431996:N510Y|.	ENSP00000312671:N1093Y|.	N|Q	+|+	1|2	0|0	EHBP1L1|EHBP1L1	65108558|65108558	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.924000|0.924000	0.55760|0.55760	2.207000|2.207000	0.42788|0.42788	0.345000|0.345000	0.23873|0.23873	-0.411000|-0.411000	0.06167|0.06167	AAC|CAA	.	.		0.587	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658	
FOLR1	2348	hgsc.bcm.edu	37	11	71906452	71906452	+	Silent	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:71906452G>A	ENST00000393679.1	+	3	742	c.306G>A	c.(304-306)caG>caA	p.Q102Q	FOLR1_ENST00000312293.4_Silent_p.Q102Q|FOLR1_ENST00000393676.3_Silent_p.Q102Q|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Silent_p.Q102Q			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	102					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	ATTTCATCCAGGACACCTGCC	0.547																																					p.Q102Q		Atlas-SNP	.											.	FOLR1	22	.	0			c.G306A						.						152.0	149.0	150.0					11																	71906452		2200	4293	6493	SO:0001819	synonymous_variant	2348	exon2			CATCCAGGACACC	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.306G>A	chr11.hg19:g.71906452G>A		68.0	0.0		51.0	20.0	NM_016729	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Silent	SNP	ENST00000393679.1	hg19	CCDS8211.1																																																																																			.	.		0.547	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725	
C2CD3	26005	hgsc.bcm.edu	37	11	73811676	73811676	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:73811676T>C	ENST00000334126.7	-	15	2852	c.2626A>G	c.(2626-2628)Aac>Gac	p.N876D	C2CD3_ENST00000313663.7_Missense_Mutation_p.N876D			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	876					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATCACATTGTTCTTAAGCCTT	0.438																																					p.N876D		Atlas-SNP	.											.	C2CD3	288	.	0			c.A2626G						.						92.0	86.0	88.0					11																	73811676		2200	4293	6493	SO:0001583	missense	26005	exon15			CATTGTTCTTAAG	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2626A>G	chr11.hg19:g.73811676T>C	ENSP00000334379:p.Asn876Asp	93.0	0.0		79.0	25.0	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	hg19		.	.	.	.	.	.	.	.	.	.	T	28.4	4.916534	0.92249	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	D;D	0.95137	-3.62;-3.62	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	L	0.48362	1.52	0.47778	D	0.999517	D	0.71674	0.998	D	0.80764	0.994	D	0.95504	0.8580	10	0.41790	T	0.15	-16.3026	15.9122	0.79479	0.0:0.0:0.0:1.0	.	876	Q4AC94-1	.	D	876	ENSP00000334379:N876D;ENSP00000323339:N876D	ENSP00000323339:N876D	N	-	1	0	C2CD3	73489324	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.109000	0.64615	2.237000	0.73441	0.528000	0.53228	AAC	.	.		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
DSCAML1	57453	hgsc.bcm.edu	37	11	117651413	117651413	+	Silent	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:117651413G>T	ENST00000321322.6	-	2	340	c.339C>A	c.(337-339)ccC>ccA	p.P113P	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	53	Ig-like C2-type 1.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGCCGCGCTGGGGGAGCCCG	0.652																																					p.P113P		Atlas-SNP	.											.	DSCAML1	286	.	0			c.C339A						.						39.0	45.0	43.0					11																	117651413		2200	4295	6495	SO:0001819	synonymous_variant	57453	exon2			CGCGCTGGGGGAG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.339C>A	chr11.hg19:g.117651413G>T		45.0	0.0		46.0	12.0	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	hg19	CCDS8384.1																																																																																			.	.		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
GRIK4	2900	hgsc.bcm.edu	37	11	120831719	120831719	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:120831719T>G	ENST00000527524.2	+	17	2263	c.1976T>G	c.(1975-1977)cTg>cGg	p.L659R	GRIK4_ENST00000438375.2_Missense_Mutation_p.L659R	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	659					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GTGGATGACCTGGCTGACCAG	0.542																																					p.L659R		Atlas-SNP	.											.	GRIK4	149	.	0			c.T1976G						.						132.0	107.0	115.0					11																	120831719		2203	4299	6502	SO:0001583	missense	2900	exon15			ATGACCTGGCTGA	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1976T>G	chr11.hg19:g.120831719T>G	ENSP00000435648:p.Leu659Arg	55.0	0.0		86.0	30.0	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	hg19	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.830954	0.91036	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.23754	1.89;1.89	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.65790	0.2725	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78748	-0.2083	10	0.87932	D	0	.	15.3185	0.74102	0.0:0.0:0.0:1.0	.	659;659	A6H8K8;Q16099	.;GRIK4_HUMAN	R	659	ENSP00000435648:L659R;ENSP00000404063:L659R	ENSP00000404063:L659R	L	+	2	0	GRIK4	120336929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.097000	0.63578	0.533000	0.62120	CTG	.	.		0.542	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
OPCML	4978	hgsc.bcm.edu	37	11	132812856	132812856	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr11:132812856G>T	ENST00000331898.7	-	1	710	c.132C>A	c.(130-132)aaC>aaA	p.N44K	OPCML_ENST00000541867.1_Missense_Mutation_p.N44K|OPCML_ENST00000524381.1_Missense_Mutation_p.N37K|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Missense_Mutation_p.N3K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	44	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGACCGTCACGTTGTCCATAG	0.667																																					p.N44K		Atlas-SNP	.											.	OPCML	166	.	0			c.C132A						.						64.0	69.0	67.0					11																	132812856		2201	4295	6496	SO:0001583	missense	4978	exon1			CGTCACGTTGTCC	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.132C>A	chr11.hg19:g.132812856G>T	ENSP00000330862:p.Asn44Lys	63.0	0.0		50.0	16.0	NM_002545	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	hg19	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579032	0.86645	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.6	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134612	0.47852	D	0.000218	T	0.63721	0.2535	M	0.92317	3.295	0.51767	D	0.999939	D;P;D;D	0.63880	0.981;0.86;0.981;0.993	D;P;D;D	0.69824	0.946;0.832;0.946;0.966	T	0.74109	-0.3771	10	0.87932	D	0	-20.4728	14.2764	0.66181	0.0714:0.0:0.9286:0.0	.	44;37;44;44	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	K	44;37;3;37;44	ENSP00000330862:N44K;ENSP00000434750:N37K;ENSP00000363910:N3K;ENSP00000445496:N44K	ENSP00000330862:N44K	N	-	3	2	OPCML	132318066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.324000	0.72896	1.381000	0.46364	0.655000	0.94253	AAC	.	.		0.667	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
CASC1	55259	hgsc.bcm.edu	37	12	25272106	25272106	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr12:25272106G>C	ENST00000320267.9	-	11	1432	c.1351C>G	c.(1351-1353)Cct>Gct	p.P451A	CASC1_ENST00000354189.5_Missense_Mutation_p.P515A|CASC1_ENST00000395990.2_Missense_Mutation_p.P411A|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.P339A|CASC1_ENST00000395987.3_Missense_Mutation_p.P457A|CASC1_ENST00000545133.1_Missense_Mutation_p.P392A	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	451										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACAACCACAGGATCCTCAAAA	0.373																																					p.P515A		Atlas-SNP	.											.	CASC1	146	.	0			c.C1543G						.						101.0	92.0	95.0					12																	25272106		2203	4300	6503	SO:0001583	missense	55259	exon12			CCACAGGATCCTC	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1351C>G	chr12.hg19:g.25272106G>C	ENSP00000313141:p.Pro451Ala	82.0	0.0		79.0	32.0	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	hg19	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.02|17.02	3.282367|3.282367	0.59867|0.59867	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.61742|.	0.08;0.74;0.74;0.16;0.16|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Casc1 domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77922|0.77922	0.4203|0.4203	M|M	0.82323|0.82323	2.585|2.585	0.49389|0.49389	D|D	0.999786|0.999786	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	T|T	0.79725|0.79725	-0.1683|-0.1683	10|5	0.51188|.	T|.	0.08|.	-18.5658|-18.5658	15.7854|15.7854	0.78297|0.78297	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	339;392;515;451;457|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	A|C	515;457;451;411;339;457;392;261|287	ENSP00000346126:P515A;ENSP00000379310:P457A;ENSP00000313141:P451A;ENSP00000379313:P411A;ENSP00000437373:P392A|.	ENSP00000313141:P451A|.	P|S	-|-	1|2	0|0	CASC1|CASC1	25163373|25163373	1.000000|1.000000	0.71417|0.71417	0.196000|0.196000	0.23383|0.23383	0.744000|0.744000	0.42396|0.42396	6.375000|6.375000	0.73137|0.73137	2.496000|2.496000	0.84212|0.84212	0.650000|0.650000	0.86243|0.86243	CCT|TCC	.	.		0.373	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CCNT1	904	hgsc.bcm.edu	37	12	49099564	49099564	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr12:49099564T>C	ENST00000261900.3	-	3	581	c.359A>G	c.(358-360)gAt>gGt	p.D120G		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	120					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ACTTCTAGTATCAGGAAGGGA	0.398																																					p.D120G		Atlas-SNP	.											.	CCNT1	55	.	0			c.A359G						.						123.0	111.0	115.0					12																	49099564		2203	4300	6503	SO:0001583	missense	904	exon3			CTAGTATCAGGAA	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.359A>G	chr12.hg19:g.49099564T>C	ENSP00000261900:p.Asp120Gly	43.0	0.0		52.0	20.0	NM_001240	A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	hg19	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087153	0.76642	.	.	ENSG00000129315	ENST00000261900	T	0.45668	0.89	5.39	5.39	0.77823	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.64080	1.96	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	T	0.64980	-0.6279	10	0.87932	D	0	-16.2775	14.6959	0.69121	0.0:0.0:0.0:1.0	.	120	O60563	CCNT1_HUMAN	G	120	ENSP00000261900:D120G	ENSP00000261900:D120G	D	-	2	0	CCNT1	47385831	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.040000	0.89188	2.180000	0.69256	0.533000	0.62120	GAT	.	.		0.398	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240	
TMEM194A	23306	hgsc.bcm.edu	37	12	57472462	57472462	+	Missense_Mutation	SNP	C	C	T	rs368361522		TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr12:57472462C>T	ENST00000300128.4	-	1	90	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	TMEM194A_ENST00000553654.1_Intron|TMEM194A_ENST00000379391.3_Missense_Mutation_p.G23R	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	23						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCACCGCCCCCGACTCCCGAG	0.682																																					p.G23R		Atlas-SNP	.											.	TMEM194A	64	.	0			c.G67A						.						46.0	60.0	56.0					12																	57472462		2198	4296	6494	SO:0001583	missense	23306	exon1			CGCCCCCGACTCC	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.67G>A	chr12.hg19:g.57472462C>T	ENSP00000300128:p.Gly23Arg	57.0	0.0		63.0	16.0	NM_015257	Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	hg19	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.475085	0.01035	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.43294	0.95;0.99	3.93	-3.63	0.04529	.	0.853469	0.09815	N	0.752230	T	0.28499	0.0705	L	0.51422	1.61	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.26916	-1.0089	10	0.36615	T	0.2	0.1528	2.2295	0.03993	0.1449:0.2177:0.429:0.2085	.	23;23	O14524;O14524-2	T194A_HUMAN;.	R	23	ENSP00000368701:G23R;ENSP00000300128:G23R	ENSP00000300128:G23R	G	-	1	0	TMEM194A	55758729	0.000000	0.05858	0.004000	0.12327	0.048000	0.14542	-2.471000	0.00990	-0.758000	0.04690	-0.140000	0.14226	GGG	.	.		0.682	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257	
LUM	4060	hgsc.bcm.edu	37	12	91501990	91501990	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr12:91501990A>G	ENST00000266718.4	-	2	1221	c.767T>C	c.(766-768)cTg>cCg	p.L256P	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	256					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAGCTCAACCAGGGATGACAC	0.388																																					p.L256P		Atlas-SNP	.											.	LUM	65	.	0			c.T767C						.						151.0	145.0	147.0					12																	91501990		2203	4300	6503	SO:0001583	missense	4060	exon2			TCAACCAGGGATG	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.767T>C	chr12.hg19:g.91501990A>G	ENSP00000266718:p.Leu256Pro	64.0	0.0		60.0	16.0	NM_002345	B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	hg19	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763765	0.69878	.	.	ENSG00000139329	ENST00000266718	D	0.82711	-1.64	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95783	0.8818	10	0.87932	D	0	-10.6372	15.7532	0.78005	1.0:0.0:0.0:0.0	.	256	P51884	LUM_HUMAN	P	256	ENSP00000266718:L256P	ENSP00000266718:L256P	L	-	2	0	LUM	90026121	1.000000	0.71417	0.055000	0.19348	0.994000	0.84299	8.962000	0.93254	2.117000	0.64856	0.460000	0.39030	CTG	.	.		0.388	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
BTBD11	121551	hgsc.bcm.edu	37	12	107713276	107713276	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr12:107713276T>A	ENST00000280758.5	+	1	1087	c.559T>A	c.(559-561)Tcc>Acc	p.S187T	BTBD11_ENST00000420571.2_Missense_Mutation_p.S187T|BTBD11_ENST00000490090.2_Missense_Mutation_p.S187T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	187						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGCCGCACTGTCCCTCTACAA	0.692																																					p.S187T		Atlas-SNP	.											.	BTBD11	122	.	0			c.T559A						.						8.0	7.0	7.0					12																	107713276		2085	4074	6159	SO:0001583	missense	121551	exon1			GCACTGTCCCTCT	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.559T>A	chr12.hg19:g.107713276T>A	ENSP00000280758:p.Ser187Thr	47.0	0.0		60.0	20.0	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	hg19	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385026	0.61956	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.20200	2.09;2.09;2.09	4.74	4.74	0.60224	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	M	0.76328	2.33	0.80722	D	1	D;P;D	0.56035	0.974;0.956;0.974	D;P;D	0.70487	0.969;0.899;0.953	T	0.49273	-0.8957	10	0.72032	D	0.01	.	14.1921	0.65644	0.0:0.0:0.0:1.0	.	187;187;187	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	T	187	ENSP00000280758:S187T;ENSP00000413889:S187T;ENSP00000447319:S187T	ENSP00000280758:S187T	S	+	1	0	BTBD11	106237406	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.602000	0.82796	1.883000	0.54544	0.374000	0.22700	TCC	.	.		0.692	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
ACACB	32	hgsc.bcm.edu	37	12	109690864	109690864	+	Silent	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr12:109690864C>T	ENST00000338432.7	+	43	6065	c.5946C>T	c.(5944-5946)ggC>ggT	p.G1982G	ACACB_ENST00000543201.1_Silent_p.G648G|ACACB_ENST00000377854.5_Silent_p.G1912G|ACACB_ENST00000377848.3_Silent_p.G1982G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1982	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGCTGGGTGGCGTTCAGATCA	0.522																																					p.G1982G		Atlas-SNP	.											.	ACACB	330	.	0			c.C5946T						.						327.0	260.0	282.0					12																	109690864		2203	4300	6503	SO:0001819	synonymous_variant	32	exon42			GGGTGGCGTTCAG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5946C>T	chr12.hg19:g.109690864C>T		102.0	0.0		76.0	20.0	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	hg19	CCDS31898.1																																																																																			.	.		0.522	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
NBEA	26960	hgsc.bcm.edu	37	13	35632909	35632909	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr13:35632909T>G	ENST00000400445.3	+	8	1682	c.1148T>G	c.(1147-1149)tTc>tGc	p.F383C	NBEA_ENST00000310336.4_Missense_Mutation_p.F383C|NBEA_ENST00000379939.2_Missense_Mutation_p.F383C|NBEA_ENST00000540320.1_Missense_Mutation_p.F383C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	383					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATAGGGTATTCTGTGGTCAA	0.358																																					p.F383C		Atlas-SNP	.											.	NBEA	340	.	0			c.T1148G						.						33.0	30.0	31.0					13																	35632909		1801	4067	5868	SO:0001583	missense	26960	exon8			GGGTATTCTGTGG	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1148T>G	chr13.hg19:g.35632909T>G	ENSP00000383295:p.Phe383Cys	234.0	0.0		204.0	12.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330602	0.81690	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91972	0.5587	10	0.72032	D	0.01	.	15.7723	0.78180	0.0:0.0:0.0:1.0	.	383	Q5T321	.	C	383	ENSP00000440951:F383C;ENSP00000383295:F383C;ENSP00000369271:F383C;ENSP00000308534:F383C	ENSP00000308534:F383C	F	+	2	0	NBEA	34530909	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.997000	0.88414	2.195000	0.70347	0.528000	0.53228	TTC	.	.		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	hgsc.bcm.edu	37	13	35770382	35770382	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr13:35770382C>A	ENST00000400445.3	+	31	5843	c.5309C>A	c.(5308-5310)cCa>cAa	p.P1770Q	NBEA_ENST00000310336.4_Missense_Mutation_p.P1770Q|NBEA_ENST00000379939.2_Missense_Mutation_p.P1767Q|NBEA_ENST00000540320.1_Missense_Mutation_p.P1770Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1770					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACCCAGATCCAGCATTGAAG	0.408																																					p.P1770Q		Atlas-SNP	.											.	NBEA	340	.	0			c.C5309A						.						68.0	66.0	67.0					13																	35770382		1879	4111	5990	SO:0001583	missense	26960	exon31			CAGATCCAGCATT	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5309C>A	chr13.hg19:g.35770382C>A	ENSP00000383295:p.Pro1770Gln	69.0	0.0		69.0	25.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073364	0.36566	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	N	0.21448	0.665	0.80722	D	1	B;B	0.18741	0.03;0.009	B;B	0.10450	0.005;0.004	T	0.14811	-1.0459	10	0.15952	T	0.53	.	20.0979	0.97857	0.0:1.0:0.0:0.0	.	1770;1767	Q8NFP9;Q5T321	NBEA_HUMAN;.	Q	1770;1770;1767;1770;397	ENSP00000440951:P1770Q;ENSP00000383295:P1770Q;ENSP00000369271:P1767Q;ENSP00000308534:P1770Q	ENSP00000308534:P1770Q	P	+	2	0	NBEA	34668382	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	4.344000	0.59354	2.767000	0.95098	0.585000	0.79938	CCA	.	.		0.408	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
MYH6	4624	hgsc.bcm.edu	37	14	23872640	23872640	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr14:23872640G>A	ENST00000356287.3	-	9	844	c.815C>T	c.(814-816)tCc>tTc	p.S272F	MYH6_ENST00000405093.3_Missense_Mutation_p.S272F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	272	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATCACCCGGGACTTCTCCAG	0.567																																					p.S272F		Atlas-SNP	.											.	MYH6	274	.	0			c.C815T						.						96.0	103.0	100.0					14																	23872640		2203	4300	6503	SO:0001583	missense	4624	exon10			ACCCGGGACTTCT	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.815C>T	chr14.hg19:g.23872640G>A	ENSP00000348634:p.Ser272Phe	60.0	0.0		36.0	13.0	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.611837	0.46631	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.92149	-2.98;-2.98	3.74	3.74	0.42951	Myosin head, motor domain (2);	.	.	.	.	D	0.98201	0.9405	H	0.99970	5.115	0.80722	D	1	P;P	0.51351	0.944;0.944	D;D	0.64506	0.926;0.926	D	0.99120	1.0849	9	0.87932	D	0	.	15.4979	0.75669	0.0:0.0:1.0:0.0	.	272;272	D9YZU2;P13533	.;MYH6_HUMAN	F	272	ENSP00000386041:S272F;ENSP00000348634:S272F	ENSP00000348634:S272F	S	-	2	0	MYH6	22942480	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	9.358000	0.97109	1.808000	0.52836	0.462000	0.41574	TCC	.	.		0.567	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MIA2	117153	hgsc.bcm.edu	37	14	39716660	39716660	+	Silent	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr14:39716660A>G	ENST00000280082.3	+	4	1081	c.882A>G	c.(880-882)ctA>ctG	p.L294L	MIA2_ENST00000556784.1_Silent_p.L293L|RP11-407N17.3_ENST00000553728.1_Silent_p.L294L	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	294					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGTCTGAACTAGCATCTGAGT	0.413																																					p.L294L		Atlas-SNP	.											.	MIA2	82	.	0			c.A882G						.						122.0	121.0	121.0					14																	39716660		2203	4300	6503	SO:0001819	synonymous_variant	117153	exon4			TGAACTAGCATCT	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.882A>G	chr14.hg19:g.39716660A>G		67.0	0.0		55.0	25.0	NM_054024	A1L4H0|Q9H6C1	Silent	SNP	ENST00000280082.3	hg19	CCDS9672.1																																																																																			.	.		0.413	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
ZNF592	9640	hgsc.bcm.edu	37	15	85341894	85341894	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr15:85341894C>T	ENST00000560079.2	+	8	3100	c.2812C>T	c.(2812-2814)Cct>Tct	p.P938S	ZNF592_ENST00000299927.3_Missense_Mutation_p.P938S	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	938					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCAAGCCGCCCTGGCTCTCG	0.637																																					p.P938S		Atlas-SNP	.											.	ZNF592	95	.	0			c.C2812T						.						32.0	35.0	34.0					15																	85341894		2203	4299	6502	SO:0001583	missense	9640	exon8			AGCCGCCCTGGCT	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2812C>T	chr15.hg19:g.85341894C>T	ENSP00000452877:p.Pro938Ser	60.0	0.0		32.0	14.0	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	hg19	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240524	0.10023	.	.	ENSG00000166716	ENST00000299927	T	0.00627	6.12	4.75	1.65	0.23941	.	0.481435	0.23090	N	0.052041	T	0.00412	0.0013	N	0.11560	0.145	0.37541	D	0.918303	B	0.02656	0.0	B	0.08055	0.003	T	0.56643	-0.7945	10	0.18276	T	0.48	-4.0437	4.7023	0.12832	0.0:0.4523:0.3401:0.2076	.	938	Q92610	ZN592_HUMAN	S	938	ENSP00000299927:P938S	ENSP00000299927:P938S	P	+	1	0	ZNF592	83142898	0.458000	0.25760	0.579000	0.28588	0.021000	0.10359	0.364000	0.20325	0.146000	0.19002	-0.137000	0.14449	CCT	.	.		0.637	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
RCCD1	91433	hgsc.bcm.edu	37	15	91500107	91500107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr15:91500107G>A	ENST00000394258.2	+	2	345	c.143G>A	c.(142-144)tGg>tAg	p.W48*	AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000556618.1_Nonsense_Mutation_p.W48*|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000555155.1_Nonsense_Mutation_p.W48*	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	48						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			AGCGCGAGCTGGAGCTACACC	0.731																																					p.W48X		Atlas-SNP	.											.	RCCD1	9	.	0			c.G143A						.						9.0	11.0	11.0					15																	91500107		2182	4272	6454	SO:0001587	stop_gained	91433	exon2			CGAGCTGGAGCTA		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.143G>A	chr15.hg19:g.91500107G>A	ENSP00000377801:p.Trp48*	41.0	0.0		27.0	13.0	NM_001017919	B2RTP9|Q29RX6	Nonsense_Mutation	SNP	ENST00000394258.2	hg19	CCDS32333.1	.	.	.	.	.	.	.	.	.	.	G	37	6.189925	0.97362	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618	.	.	.	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	11.9876	0.53157	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000377801:W48X	W	+	2	0	RCCD1	89301111	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.933000	0.63484	2.278000	0.76064	0.555000	0.69702	TGG	.	.		0.731	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544	
MYLK3	91807	hgsc.bcm.edu	37	16	46761274	46761274	+	Silent	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr16:46761274C>T	ENST00000394809.4	-	8	1903	c.1788G>A	c.(1786-1788)gaG>gaA	p.E596E	MYLK3_ENST00000536476.1_Silent_p.E255E	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGTCGAAGAGCTCACCCCCGT	0.572																																					p.E596E		Atlas-SNP	.											.	MYLK3	82	.	0			c.G1788A						.						132.0	87.0	102.0					16																	46761274		2203	4300	6503	SO:0001819	synonymous_variant	91807	exon8			GAAGAGCTCACCC	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1788G>A	chr16.hg19:g.46761274C>T		61.0	0.0		43.0	17.0	NM_182493	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	hg19	CCDS10723.2																																																																																			.	.		0.572	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493	
CDH11	1009	hgsc.bcm.edu	37	16	65032623	65032623	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr16:65032623G>T	ENST00000268603.4	-	4	980	c.365C>A	c.(364-366)gCc>gAc	p.A122D	CDH11_ENST00000566827.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.A122D	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGTGTACTGGGCTCTCTCTTC	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.A122D		Atlas-SNP	.		Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	CDH11	260	.	0			c.C365A						.						162.0	122.0	136.0					16																	65032623		2203	4300	6503	SO:0001583	missense	1009	exon4			TACTGGGCTCTCT	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.365C>A	chr16.hg19:g.65032623G>T	ENSP00000268603:p.Ala122Asp	102.0	0.0		77.0	39.0	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	hg19	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187190	0.78789	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390;ENST00000536902	T;T	0.60040	0.22;0.22	5.87	5.87	0.94306	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	L	0.38692	1.165	0.80722	D	1	D;P	0.89917	1.0;0.577	D;B	0.83275	0.996;0.203	T	0.70809	-0.4771	10	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	122;122	P55287-2;P55287	.;CAD11_HUMAN	D	122;122;105;122	ENSP00000268603:A122D;ENSP00000377711:A122D	ENSP00000268603:A122D	A	-	2	0	CDH11	63590124	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GCC	.	.		0.498	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
TP53	7157	hgsc.bcm.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	T	rs121913343		TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr17:7577121G>T	ENST00000269305.4	-	8	1006	c.817C>A	c.(817-819)Cgt>Agt	p.R273S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273S|TP53_ENST00000420246.2_Missense_Mutation_p.R273S|TP53_ENST00000359597.4_Missense_Mutation_p.R273S	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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.R273S	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_ENST00000455263,NS,adenocarcinoma,+1,1	TP53	33396	.	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	c.C817A	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	.						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	exon8	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;	AAACACGCACCTC	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.817C>A	chr17.hg19:g.7577121G>T	ENSP00000269305:p.Arg273Ser	74.0	0.0		49.0	19.0	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	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492993	0.64186	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.54753	D	0.999989	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.83275	0.993;0.994;0.996;0.991	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	273;273;273;273;273;262;141	ENSP00000352610:R273S;ENSP00000269305:R273S;ENSP00000398846:R273S;ENSP00000391127:R273S;ENSP00000391478:R273S;ENSP00000425104:R141S	ENSP00000269305:R273S	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	.	.		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ACLY	47	hgsc.bcm.edu	37	17	40049360	40049360	+	Silent	SNP	C	C	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr17:40049360C>A	ENST00000352035.2	-	15	1657	c.1527G>T	c.(1525-1527)gtG>gtT	p.V509V	ACLY_ENST00000353196.1_Silent_p.V499V|ACLY_ENST00000590151.1_Silent_p.V509V|ACLY_ENST00000537919.1_Silent_p.V238V|ACLY_ENST00000393896.2_Silent_p.V499V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	509					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCATGCCTTGCACGGCCCGGG	0.587																																					p.V509V	Colon(64;807 1396 15971 30971)	Atlas-SNP	.											.	ACLY	85	.	0			c.G1527T						.						106.0	99.0	101.0					17																	40049360		2203	4300	6503	SO:0001819	synonymous_variant	47	exon15			GCCTTGCACGGCC	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1527G>T	chr17.hg19:g.40049360C>A		62.0	0.0		57.0	15.0	NM_001096	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	hg19	CCDS11412.1																																																																																			.	.		0.587	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	
CACNA1G	8913	hgsc.bcm.edu	37	17	48683348	48683348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr17:48683348G>A	ENST00000359106.5	+	23	4386	c.4386G>A	c.(4384-4386)tgG>tgA	p.W1462*	CACNA1G_ENST00000503485.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000515165.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000510366.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000352832.5_Nonsense_Mutation_p.W1439*|CACNA1G_ENST00000358244.5_Nonsense_Mutation_p.W1439*|CACNA1G_ENST00000507609.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000514079.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000507336.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000513689.2_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000515411.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000513964.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000507896.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000442258.2_Nonsense_Mutation_p.W1439*|CACNA1G_ENST00000360761.4_Nonsense_Mutation_p.W1439*|CACNA1G_ENST00000354983.4_Nonsense_Mutation_p.W1439*|CACNA1G_ENST00000514181.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000429973.2_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000514717.1_Nonsense_Mutation_p.W1439*|CACNA1G_ENST00000505165.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000507510.2_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000416767.4_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000515765.1_Nonsense_Mutation_p.W1462*|CACNA1G_ENST00000510115.1_Nonsense_Mutation_p.W1439*|CACNA1G_ENST00000502264.1_Nonsense_Mutation_p.W1439*|CACNA1G_ENST00000512389.1_Nonsense_Mutation_p.W1462*	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1462					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTACCGGTGGGTCCGGCACA	0.582																																					p.W1462X		Atlas-SNP	.											.	CACNA1G	659	.	0			c.G4386A						.						45.0	52.0	50.0					17																	48683348		2177	4277	6454	SO:0001587	stop_gained	8913	exon23			CCGGTGGGTCCGG	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4386G>A	chr17.hg19:g.48683348G>A	ENSP00000352011:p.Trp1462*	85.0	0.0		79.0	22.0	NM_001256360	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Nonsense_Mutation	SNP	ENST00000359106.5	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	44	10.904226	0.99486	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.279	0.94044	0.0:0.0:1.0:0.0	.	.	.	.	X	1439;1439;1462;1439;1439;1439;1462;1462;1439;1462;1462;1462;1462;1462;1462;1439;1462;1462;1462;1462;1439;1462;1462;1462;1462;1462;277	.	ENSP00000339302:W1439X	W	+	3	0	CACNA1G	46038347	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.869000	0.99810	2.560000	0.86352	0.655000	0.94253	TGG	.	.		0.582	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
SRSF1	6426	hgsc.bcm.edu	37	17	56082796	56082796	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr17:56082796G>T	ENST00000258962.4	-	4	926	c.718C>A	c.(718-720)Cgt>Agt	p.R240S	SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.R240S|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	240	Arg/Ser-rich (RS domain).|Interacts with SAFB1.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGCTATGACGGGGAGAATAG	0.458																																					p.R240S		Atlas-SNP	.											.	SRSF1	41	.	0			c.C718A						.						207.0	183.0	191.0					17																	56082796		2203	4300	6503	SO:0001583	missense	6426	exon4			TATGACGGGGAGA		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.718C>A	chr17.hg19:g.56082796G>T	ENSP00000258962:p.Arg240Ser	51.0	0.0		68.0	18.0	NM_006924	B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	hg19	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627224	0.28978	.	.	ENSG00000136450	ENST00000258962	T	0.06371	3.31	5.52	5.52	0.82312	.	1.477640	0.03973	N	0.291997	T	0.12944	0.0314	N	0.17474	0.49	0.80722	D	1	D	0.53745	0.962	P	0.53450	0.726	T	0.48747	-0.9008	10	0.20046	T	0.44	.	19.8212	0.96595	0.0:0.0:1.0:0.0	.	240	Q07955	SRSF1_HUMAN	S	240	ENSP00000258962:R240S	ENSP00000258962:R240S	R	-	1	0	SRSF1	53437795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.282000	0.95840	2.759000	0.94783	0.557000	0.71058	CGT	.	.		0.458	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924	
MAP3K3	4215	hgsc.bcm.edu	37	17	61771085	61771085	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr17:61771085G>A	ENST00000361733.3	+	16	2149	c.1829G>A	c.(1828-1830)aGa>aAa	p.R610K	MAP3K3_ENST00000361357.3_Missense_Mutation_p.R641K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.R637K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R606K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R641K	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTCGCCAGAGACCTTCAGCT	0.592																																					p.R641K		Atlas-SNP	.											.	MAP3K3	56	.	0			c.G1922A						.						79.0	75.0	77.0					17																	61771085		2203	4300	6503	SO:0001583	missense	4215	exon17			GCCAGAGACCTTC	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1829G>A	chr17.hg19:g.61771085G>A	ENSP00000354485:p.Arg610Lys	42.0	0.0		36.0	10.0	NM_203351	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	hg19	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882528	0.91740	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.70869	-0.52;-0.52	4.69	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	H	0.97390	3.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93930	0.7213	10	0.87932	D	0	.	17.6147	0.88064	0.0:0.0:1.0:0.0	.	606;578;610;641	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	K	641;610	ENSP00000354927:R641K;ENSP00000354485:R610K	ENSP00000354927:R641K	R	+	2	0	MAP3K3	59124817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.148000	0.66965	0.561000	0.74099	AGA	.	.		0.592	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401	
SCN4A	6329	hgsc.bcm.edu	37	17	62045561	62045561	+	Silent	SNP	C	C	T	rs560230431		TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr17:62045561C>T	ENST00000435607.1	-	6	934	c.858G>A	c.(856-858)ccG>ccA	p.P286P	SCN4A_ENST00000578147.1_Silent_p.P286P	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	286					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCGTTGAACGGCGGGGGCC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20313	0.0		0.001	False		,,,				2504	0.0				p.P286P		Atlas-SNP	.											.	SCN4A	205	.	0			c.G858A						.						185.0	186.0	185.0					17																	62045561		2180	4275	6455	SO:0001819	synonymous_variant	6329	exon6			GTTGAACGGCGGG	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.858G>A	chr17.hg19:g.62045561C>T		132.0	0.0		97.0	20.0	NM_000334	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	hg19	CCDS45761.1																																																																																			.	.		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
MAP2K6	5608	hgsc.bcm.edu	37	17	67521046	67521046	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr17:67521046A>G	ENST00000590474.1	+	9	955	c.668A>G	c.(667-669)gAa>gGa	p.E223G	MAP2K6_ENST00000589647.1_Missense_Mutation_p.E167G	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TTCCAGCCTGAAAGAATAAAC	0.463																																					p.E223G		Atlas-SNP	.											.	MAP2K6	41	.	0			c.A668G						.						89.0	82.0	84.0					17																	67521046		2203	4300	6503	SO:0001583	missense	5608	exon9			AGCCTGAAAGAAT	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.668A>G	chr17.hg19:g.67521046A>G	ENSP00000468348:p.Glu223Gly	50.0	0.0		47.0	22.0	NM_002758		Missense_Mutation	SNP	ENST00000590474.1	hg19	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675245	0.88445	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053993	0.64402	D	0.000001	D	0.88164	0.6363	H	0.98407	4.225	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	D	0.92435	0.5957	8	.	.	.	-28.0371	14.3319	0.66564	1.0:0.0:0.0:0.0	.	223	P52564	MP2K6_HUMAN	G	223	.	.	E	+	2	0	MAP2K6	65032641	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.021000	0.93673	2.302000	0.77476	0.533000	0.62120	GAA	.	.		0.463	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	
COLEC12	81035	hgsc.bcm.edu	37	18	346626	346626	+	Silent	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr18:346626C>T	ENST00000400256.3	-	5	1203	c.996G>A	c.(994-996)ctG>ctA	p.L332L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	332					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGCGTTCCTCCAGTTGGTTGA	0.468																																					p.L332L		Atlas-SNP	.											.	COLEC12	121	.	0			c.G996A						.						159.0	128.0	139.0					18																	346626		2203	4300	6503	SO:0001819	synonymous_variant	81035	exon5			TTCCTCCAGTTGG	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.996G>A	chr18.hg19:g.346626C>T		59.0	0.0		60.0	10.0	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	hg19	CCDS32782.1																																																																																			.	.		0.468	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
MTCL1	23255	hgsc.bcm.edu	37	18	8718623	8718623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr18:8718623C>T	ENST00000306329.11	+	2	1255	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	SOGA2_ENST00000517570.1_Nonsense_Mutation_p.R59*|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Nonsense_Mutation_p.R59*|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.R59*																							TGAGCTTATTCGAAGCCTGGA	0.572																																					p.R59X		Atlas-SNP	.											.	.	.	.	0			c.C175T						.						121.0	94.0	103.0					18																	8718623		2203	4300	6503	SO:0001587	stop_gained	23255	exon3			CTTATTCGAAGCC																												ENST00000306329.11:c.1255C>T	chr18.hg19:g.8718623C>T	ENSP00000305027:p.Arg419*	79.0	0.0		55.0	21.0	NM_015210		Nonsense_Mutation	SNP	ENST00000306329.11	hg19		.	.	.	.	.	.	.	.	.	.	C	21.2	4.110217	0.77210	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	.	.	.	4.87	-2.59	0.06209	.	0.000000	0.41294	D	0.000909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7107	17.161	0.86803	0.8109:0.1891:0.0:0.0	.	.	.	.	X	80;59;59;59	.	ENSP00000305027:R80X	R	+	1	2	CCDC165	8708623	0.924000	0.31332	0.708000	0.30435	0.470000	0.32858	0.440000	0.21592	-0.241000	0.09681	0.462000	0.41574	CGA	.	.		0.572	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
LOXHD1	125336	hgsc.bcm.edu	37	18	44126901	44126901	+	Silent	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr18:44126901G>A	ENST00000398722.4	-	15	2636	c.2637C>T	c.(2635-2637)ggC>ggT	p.G879G	LOXHD1_ENST00000441551.2_Silent_p.G951G|LOXHD1_ENST00000582408.1_Silent_p.G46G|LOXHD1_ENST00000441893.2_Silent_p.G90G|LOXHD1_ENST00000300591.6_Silent_p.G46G|LOXHD1_ENST00000579038.1_5'UTR|LOXHD1_ENST00000536736.1_Silent_p.G1157G			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	879					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TGTTGTCACCGCCTCCCCTAC	0.582																																					p.G1157G		Atlas-SNP	.											.	LOXHD1	367	.	0			c.C3471T						.						87.0	94.0	92.0					18																	44126901		692	1591	2283	SO:0001819	synonymous_variant	125336	exon22			GTCACCGCCTCCC	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.2637C>T	chr18.hg19:g.44126901G>A		45.0	0.0		41.0	12.0	NM_144612	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	ENST00000398722.4	hg19		.	.	.	.	.	.	.	.	.	.	G	0.727	-0.781243	0.02929	.	.	ENSG00000167210	ENST00000441551	.	.	.	4.48	-6.75	0.01738	.	.	.	.	.	T	0.15609	0.0376	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29336	-1.0015	4	.	.	.	.	1.1757	0.01835	0.4254:0.1004:0.1449:0.3294	.	.	.	.	W	1138	.	.	R	-	1	2	LOXHD1	42380899	0.000000	0.05858	0.135000	0.22099	0.202000	0.24057	-1.617000	0.02051	-0.490000	0.06707	-1.031000	0.02408	CGG	.	.		0.582	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
ANGPTL4	51129	hgsc.bcm.edu	37	19	8436287	8436287	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr19:8436287C>A	ENST00000301455.2	+	6	1091	c.920C>A	c.(919-921)cCc>cAc	p.P307H	RAB11B-AS1_ENST00000597785.1_RNA|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.P140H|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.P269H|RAB11B-AS1_ENST00000593581.1_RNA	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	307	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		P -> S. {ECO:0000269|PubMed:17322881}.		angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CTCACTGCACCCGTGGCCGGC	0.677																																					p.P307H		Atlas-SNP	.											.	ANGPTL4	21	.	0			c.C920A						.						45.0	40.0	41.0					19																	8436287		2203	4299	6502	SO:0001583	missense	51129	exon6			CTGCACCCGTGGC	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.920C>A	chr19.hg19:g.8436287C>A	ENSP00000301455:p.Pro307His	71.0	0.0		56.0	16.0	NM_139314	A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	hg19	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134569	0.37630	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.20332	2.08;2.08;2.08	5.09	4.05	0.47172	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.501490	0.03608	N	0.234343	T	0.31979	0.0814	L	0.28504	0.86	0.09310	N	0.999993	D;D	0.53151	0.958;0.958	P;P	0.60068	0.868;0.868	T	0.31280	-0.9949	10	0.13853	T	0.58	.	11.7429	0.51803	0.0:0.9133:0.0:0.0867	.	269;307	A8MY84;Q9BY76	.;ANGL4_HUMAN	H	307;269;140	ENSP00000301455:P307H;ENSP00000377534:P269H;ENSP00000439833:P140H	ENSP00000301455:P307H	P	+	2	0	ANGPTL4	8342287	0.000000	0.05858	0.326000	0.25389	0.003000	0.03518	0.588000	0.23924	2.363000	0.80096	0.555000	0.69702	CCC	.	.		0.677	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314	
LGALS4	3960	hgsc.bcm.edu	37	19	39299453	39299453	+	Silent	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr19:39299453C>T	ENST00000307751.4	-	3	747	c.270G>A	c.(268-270)aaG>aaA	p.K90K	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	90	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCATGCTCCTCTTCCTCTCCT	0.567																																					p.K90K		Atlas-SNP	.											.	LGALS4	39	.	0			c.G270A						.						197.0	154.0	168.0					19																	39299453		2203	4300	6503	SO:0001819	synonymous_variant	3960	exon3			GCTCCTCTTCCTC		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.270G>A	chr19.hg19:g.39299453C>T		95.0	0.0		132.0	21.0	NM_006149		Silent	SNP	ENST00000307751.4	hg19	CCDS12521.1																																																																																			.	.		0.567	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149	
ERICH4	100170765	hgsc.bcm.edu	37	19	41949917	41949917	+	Silent	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr19:41949917C>T	ENST00000378187.2	+	2	193	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_001130514.1	NP_001123986.1	A6NGS2	ERIC4_HUMAN		61																	GCAGGGGAACCTGCGCCGAGT	0.637																																					p.L61L		Atlas-SNP	.											.	C19orf69	4	.	0			c.C181T						.						8.0	14.0	12.0					19																	41949917		683	1562	2245	SO:0001819	synonymous_variant	100170765	exon2			GGGAACCTGCGCC																												ENST00000378187.2:c.181C>T	chr19.hg19:g.41949917C>T		42.0	0.0		37.0	9.0	NM_001130514		Silent	SNP	ENST00000378187.2	hg19	CCDS46085.1																																																																																			.	.		0.637	C19orf69-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ETHE1	23474	hgsc.bcm.edu	37	19	44015587	44015587	+	Splice_Site	SNP	A	A	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr19:44015587A>T	ENST00000292147.2	-	4	572		c.e4+1		ETHE1_ENST00000600651.1_Splice_Site	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1						cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GGAGCTGGTCACCTTGCTGGA	0.493																																					.		Atlas-SNP	.											.	ETHE1	7	.	0			c.505+2T>A						.						107.0	76.0	87.0					19																	44015587		2203	4300	6503	SO:0001630	splice_region_variant	23474	exon5			CTGGTCACCTTGC		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.505+1T>A	chr19.hg19:g.44015587A>T		62.0	0.0		77.0	23.0	NM_014297	Q96HR0|Q9H001	Splice_Site	SNP	ENST00000292147.2	hg19	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278724	0.59758	.	.	ENSG00000105755	ENST00000292147	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1154	0.59297	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETHE1	48707427	1.000000	0.71417	0.973000	0.42090	0.523000	0.34469	7.965000	0.87945	2.265000	0.75225	0.449000	0.29647	.	.	.		0.493	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297	Intron
LILRB5	10990	hgsc.bcm.edu	37	19	54759290	54759290	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr19:54759290G>T	ENST00000316219.5	-	5	918	c.811C>A	c.(811-813)Ccc>Acc	p.P271T	LILRB5_ENST00000345866.6_Missense_Mutation_p.P171T|LILRB5_ENST00000449561.2_Missense_Mutation_p.P271T|LILRB5_ENST00000450632.1_Missense_Mutation_p.P262T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	271	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGCCTGGGGCTGCTGGCCA	0.627																																					p.P271T		Atlas-SNP	.											.	LILRB5	176	.	0			c.C811A						.						45.0	46.0	46.0					19																	54759290		2203	4300	6503	SO:0001583	missense	10990	exon5			CCTGGGGCTGCTG	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.811C>A	chr19.hg19:g.54759290G>T	ENSP00000320390:p.Pro271Thr	124.0	0.0		177.0	53.0	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	hg19	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160340	0.21454	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00691	5.84;5.84;5.84;5.84	2.19	-4.38	0.03622	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.405960	0.04922	N	0.455206	T	0.01558	0.0050	L	0.46567	1.45	0.09310	N	1	P;P;B;P;D	0.57257	0.952;0.591;0.073;0.944;0.979	P;P;B;P;P	0.57720	0.826;0.51;0.268;0.696;0.817	T	0.37430	-0.9706	10	0.28530	T	0.3	.	4.0167	0.09647	0.1434:0.0:0.2763:0.5803	.	262;162;171;271;271	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	T	271;262;271;171	ENSP00000320390:P271T;ENSP00000414225:P262T;ENSP00000406478:P271T;ENSP00000263430:P171T	ENSP00000320390:P271T	P	-	1	0	LILRB5	59451102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.421000	0.07053	-0.890000	0.03945	-0.493000	0.04662	CCC	.	.		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
ZNF582	147948	hgsc.bcm.edu	37	19	56895232	56895232	+	Silent	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr19:56895232C>T	ENST00000301310.4	-	5	1712	c.1554G>A	c.(1552-1554)taG>taA	p.*518*	ZNF582_ENST00000586929.1_Silent_p.*518*	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CACAATTAGCCTAGGCTAATG	0.413																																					p.X518X	Ovarian(183;1887 2032 4349 30507 51343)	Atlas-SNP	.											.	ZNF582	56	.	0			c.G1554A						.						128.0	123.0	125.0					19																	56895232		2203	4300	6503	SO:0001819	synonymous_variant	147948	exon5			ATTAGCCTAGGCT	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1554G>A	chr19.hg19:g.56895232C>T		38.0	0.0		44.0	20.0	NM_144690	B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	ENST00000301310.4	hg19	CCDS33121.1																																																																																			.	.		0.413	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
ZNF419	79744	hgsc.bcm.edu	37	19	58004589	58004589	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr19:58004589C>G	ENST00000221735.7	+	5	850	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	ZNF419_ENST00000354197.4_Missense_Mutation_p.Q210E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.Q209E|ZNF419_ENST00000426954.2_Missense_Mutation_p.Q210E|ZNF419_ENST00000347466.6_Missense_Mutation_p.Q190E|ZNF419_ENST00000424930.2_Missense_Mutation_p.Q223E|ZNF419_ENST00000415379.2_Missense_Mutation_p.Q176E			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGTTCAGCACCAGAGACTACA	0.408																																					p.Q223E		Atlas-SNP	.											.	ZNF419	134	.	0			c.C667G						.						71.0	74.0	73.0					19																	58004589		2202	4300	6502	SO:0001583	missense	79744	exon5			CAGCACCAGAGAC	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.664C>G	chr19.hg19:g.58004589C>G	ENSP00000221735:p.Gln222Glu	113.0	0.0		147.0	33.0	NM_001098491	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	hg19	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	C	8.650	0.898020	0.17686	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	2.36	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48642	0.1511	N	0.20610	0.595	0.22185	N	0.999301	P;P;D;P;B;P;B	0.53619	0.664;0.906;0.961;0.906;0.043;0.952;0.043	B;P;P;P;B;P;B	0.61070	0.444;0.836;0.883;0.836;0.004;0.813;0.004	T	0.30592	-0.9973	9	0.54805	T	0.06	.	4.72	0.12913	0.2504:0.5043:0.2453:0.0	.	176;176;209;210;223;190;222	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	E	225;223;210;210;209;223;190;176;222	ENSP00000388864:Q223E;ENSP00000390916:Q210E;ENSP00000346136:Q210E;ENSP00000414709:Q209E;ENSP00000299860:Q190E;ENSP00000392129:Q176E;ENSP00000221735:Q222E	ENSP00000221735:Q222E	Q	+	1	0	ZNF419	62696401	0.000000	0.05858	0.947000	0.38551	0.116000	0.19942	-0.322000	0.08007	0.294000	0.22547	0.205000	0.17691	CAG	.	.		0.408	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
SLC27A5	10998	hgsc.bcm.edu	37	19	59010879	59010879	+	Silent	SNP	G	G	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr19:59010879G>A	ENST00000263093.2	-	7	1756	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Silent_p.D465D|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	549					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCCCGAGGCGGTCGCGGAAGT	0.652																																					p.D549D		Atlas-SNP	.											.	SLC27A5	58	.	0			c.C1647T						.						51.0	49.0	50.0					19																	59010879		2203	4300	6503	SO:0001819	synonymous_variant	10998	exon7			GAGGCGGTCGCGG	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1647C>T	chr19.hg19:g.59010879G>A		75.0	0.0		91.0	21.0	NM_012254	B3KVP6|B4DPQ1	Silent	SNP	ENST00000263093.2	hg19	CCDS12983.1																																																																																			.	.		0.652	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254	
MACROD2	140733	hgsc.bcm.edu	37	20	15967381	15967381	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr20:15967381A>T	ENST00000310348.4	+	14	995	c.995A>T	c.(994-996)aAt>aTt	p.N332I	MACROD2_ENST00000378058.3_Missense_Mutation_p.N97I|MACROD2_ENST00000402914.1_Missense_Mutation_p.N97I|MACROD2_ENST00000407045.3_De_novo_Start_OutOfFrame|MACROD2_ENST00000217246.4_Missense_Mutation_p.N332I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	332	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGACAAGAGAATGATTCAACG	0.333																																					p.N332I		Atlas-SNP	.											.	MACROD2	34	.	0			c.A995T						.						59.0	56.0	57.0					20																	15967381		2203	4300	6503	SO:0001583	missense	140733	exon14			AAGAGAATGATTC	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.995A>T	chr20.hg19:g.15967381A>T	ENSP00000309809:p.Asn332Ile	232.0	0.0		173.0	61.0	NM_080676	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	hg19	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129594	0.37630	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.51325	2.25;2.26;0.71;0.71	5.7	0.912	0.19349	.	0.499688	0.18664	N	0.134651	T	0.33702	0.0872	L	0.51422	1.61	0.24148	N	0.9957	B;B	0.32467	0.255;0.372	B;B	0.30179	0.052;0.112	T	0.13150	-1.0520	10	0.28530	T	0.3	-8.5223	5.0353	0.14430	0.6273:0.1449:0.2278:0.0	.	332;332	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	I	332;332;97;97	ENSP00000217246:N332I;ENSP00000309809:N332I;ENSP00000385290:N97I;ENSP00000367297:N97I	ENSP00000217246:N332I	N	+	2	0	MACROD2	15915381	1.000000	0.71417	0.954000	0.39281	0.726000	0.41606	2.032000	0.41127	0.097000	0.17492	0.477000	0.44152	AAT	.	.		0.333	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	
PREX1	57580	hgsc.bcm.edu	37	20	47271890	47271890	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr20:47271890G>T	ENST00000371941.3	-	19	2169	c.2147C>A	c.(2146-2148)cCg>cAg	p.P716Q	PREX1_ENST00000396220.1_Missense_Mutation_p.P716Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	716					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGTGTGTCCGGCTGGTCGGG	0.572																																					p.P716Q		Atlas-SNP	.											.	PREX1	441	.	0			c.C2147A						.						107.0	79.0	89.0					20																	47271890		2203	4300	6503	SO:0001583	missense	57580	exon19			GTGTCCGGCTGGT	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2147C>A	chr20.hg19:g.47271890G>T	ENSP00000361009:p.Pro716Gln	92.0	0.0		87.0	30.0	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	hg19	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985507	0.53934	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.50277	0.75;0.75	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.000000	0.53938	U	0.000044	T	0.59280	0.2182	L	0.43923	1.385	0.45762	D	0.998652	P;D	0.69078	0.922;0.997	P;D	0.68353	0.491;0.957	T	0.61372	-0.7076	10	0.56958	D	0.05	.	14.2325	0.65903	0.0:0.15:0.85:0.0	.	716;13	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	716	ENSP00000361009:P716Q;ENSP00000379522:P716Q	ENSP00000361009:P716Q	P	-	2	0	PREX1	46705297	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	4.046000	0.57376	2.158000	0.67659	0.563000	0.77884	CCG	.	.		0.572	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
B3GALT5	10317	hgsc.bcm.edu	37	21	41032560	41032560	+	Missense_Mutation	SNP	T	T	C	rs545552313		TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr21:41032560T>C	ENST00000380620.4	+	5	666	c.74T>C	c.(73-75)aTg>aCg	p.M25T	B3GALT5_ENST00000380618.1_Missense_Mutation_p.M25T|B3GALT5_ENST00000398714.2_Missense_Mutation_p.M25T|B3GALT5_ENST00000343118.4_Missense_Mutation_p.M25T|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	25					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TATTTTAGCATGTACAGTCTA	0.418																																					p.M25T		Atlas-SNP	.											.	B3GALT5	40	.	0			c.T74C						.						152.0	149.0	150.0					21																	41032560		2203	4300	6503	SO:0001583	missense	10317	exon3			TTAGCATGTACAG	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.74T>C	chr21.hg19:g.41032560T>C	ENSP00000369994:p.Met25Thr	65.0	0.0		63.0	18.0	NM_033170	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	hg19	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447534	0.26074	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.75	2.06	0.26882	.	1.353810	0.05838	U	0.618754	T	0.43366	0.1244	L	0.60455	1.87	0.09310	N	1	B	0.27068	0.167	B	0.21360	0.034	T	0.21759	-1.0236	10	0.11794	T	0.64	.	4.1467	0.10219	0.2318:0.1992:0.0:0.569	.	25	Q9Y2C3	B3GT5_HUMAN	T	25	ENSP00000369994:M25T;ENSP00000369992:M25T;ENSP00000343318:M25T;ENSP00000381699:M25T	ENSP00000343318:M25T	M	+	2	0	B3GALT5	39954430	0.003000	0.15002	0.002000	0.10522	0.130000	0.20726	0.617000	0.24359	0.107000	0.17824	0.533000	0.62120	ATG	.	.		0.418	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170	
SLC5A4	6527	hgsc.bcm.edu	37	22	32633303	32633303	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr22:32633303C>T	ENST00000266086.4	-	7	603	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	198					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCACCGAGGCCAAGCCCCCT	0.502																																					p.A198T		Atlas-SNP	.											SLC5A4,NS,carcinoma,0,1	SLC5A4	82	.	0			c.G592A						.						72.0	55.0	61.0					22																	32633303		2203	4300	6503	SO:0001583	missense	6527	exon7			CCGAGGCCAAGCC	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.592G>A	chr22.hg19:g.32633303C>T	ENSP00000266086:p.Ala198Thr	73.0	0.0		77.0	25.0	NM_014227	O15279	Missense_Mutation	SNP	ENST00000266086.4	hg19	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	17.54	3.414007	0.62511	.	.	ENSG00000100191	ENST00000266086	D	0.88586	-2.4	4.39	4.39	0.52855	Sodium/solute symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	M	0.72624	2.21	0.80722	D	1	B	0.11235	0.004	B	0.26310	0.068	D	0.85360	0.1107	10	0.35671	T	0.21	.	14.821	0.70074	0.0:1.0:0.0:0.0	.	198	Q9NY91	SC5A4_HUMAN	T	198	ENSP00000266086:A198T	ENSP00000266086:A198T	A	-	1	0	SLC5A4	30963303	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.714000	0.61902	2.438000	0.82558	0.655000	0.94253	GCC	.	.		0.502	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	
PARVB	29780	hgsc.bcm.edu	37	22	44527389	44527389	+	Silent	SNP	G	G	C			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr22:44527389G>C	ENST00000338758.7	+	5	462	c.399G>C	c.(397-399)ctG>ctC	p.L133L	PARVB_ENST00000406477.3_Silent_p.L166L|PARVB_ENST00000404989.1_Silent_p.L96L	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	133	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGTGCAAGCTGAATGTGGCTG	0.567																																					p.L166L		Atlas-SNP	.											.	PARVB	44	.	0			c.G498C						.						89.0	73.0	79.0					22																	44527389		2203	4300	6503	SO:0001819	synonymous_variant	29780	exon6			CAAGCTGAATGTG	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.399G>C	chr22.hg19:g.44527389G>C		157.0	0.0		151.0	22.0	NM_001003828	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	hg19	CCDS14056.1																																																																																			.	.		0.567	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828	
NHSL2	340527	hgsc.bcm.edu	37	X	71358362	71358362	+	5'UTR	SNP	C	C	A			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chrX:71358362C>A	ENST00000373677.1	+	0	1128				NHSL2_ENST00000535692.1_5'UTR|NHSL2_ENST00000540800.1_Missense_Mutation_p.P322T|NHSL2_ENST00000510661.1_Missense_Mutation_p.P91T			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCACTCAGTTCCAGAAGGGGT	0.562																																					p.P322T		Atlas-SNP	.											.	NHSL2	148	.	0			c.C964A						.						67.0	56.0	59.0					X																	71358362		692	1591	2283	SO:0001623	5_prime_UTR_variant	340527	exon6			TCAGTTCCAGAAG			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-135C>A	chrX.hg19:g.71358362C>A		73.0	0.0		68.0	32.0	NM_001013627	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.41	1.342182	0.24339	.	.	ENSG00000204131	ENST00000540800;ENST00000510661	T;T	0.50548	1.19;0.74	5.84	4.02	0.46733	.	.	.	.	.	T	0.33731	0.0873	L	0.29908	0.895	0.22050	N	0.999394	B;B	0.16603	0.01;0.018	B;B	0.17433	0.018;0.018	T	0.23297	-1.0192	8	.	.	.	.	8.3736	0.32430	0.1624:0.7539:0.0:0.0838	.	322;91	F5H593;D6RBM4	.;.	T	322;91	ENSP00000444617:P322T;ENSP00000424079:P91T	.	P	+	1	0	NHSL2	71275087	0.036000	0.19791	0.001000	0.08648	0.014000	0.08584	1.661000	0.37408	0.556000	0.29098	-0.297000	0.09499	CCA	.	.		0.562	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
MFSD4	148808	hgsc.bcm.edu	37	1	205568372	205568372	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-AADB-01A-11D-A40R-10	TCGA-DD-AADB-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c88c0e3-7a9c-4f59-be35-f12dbd3a0676	be9289f1-a414-4a4f-a72d-ddbf960a9fcc	g.chr1:205568372delC	ENST00000367147.4	+	9	1575	c.1482delC	c.(1480-1482)ctcfs	p.L494fs	MFSD4_ENST00000478555.1_3'UTR|MFSD4_ENST00000539267.1_3'UTR|MFSD4_ENST00000536357.1_Frame_Shift_Del_p.L407fs	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	494					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ACCCTGGACTCCCATCAGGTA	0.512																																					p.L494fs		Atlas-INDEL	.											.	MFSD4	46	.	0			c.1481delT						.						235.0	195.0	209.0					1																	205568372		2203	4300	6503	SO:0001589	frameshift_variant	148808	exon9			.	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.1482delC	chr1.hg19:g.205568372delC	ENSP00000356115:p.Leu494fs	55.0	0.0		37.0	11.0	NM_181644	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Frame_Shift_Del	DEL	ENST00000367147.4	hg19	CCDS1455.1																																																																																			.	.		0.512	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644	
