#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_Confidence	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_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	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_dbSNP_PopFreq	i_dbSNP_Strength	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
TMEM88B	643965	hgsc.bcm.edu	37	1	1361730	1361730	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:1361730G>A	ENST00000378821.3	+	1	223	c.223G>A	c.(223-225)Gcc>Acc	p.A75T		NM_001146685.1	NP_001140157.1	A6NKF7	TM88B_HUMAN	transmembrane protein 88B	75						integral component of membrane (GO:0016021)											GCCCGCGGCCGCCGTCGTCTA	0.751																																					p.A75T		Atlas-SNP	.											.	.	.	.	0			c.G223A						PASS	.						2.0	3.0	3.0					1																	1361730		553	1385	1938	SO:0001583	missense	643965	exon1			GCGGCCGCCGTCG		CCDS57964.1	1p36.33	2013-01-16			ENSG00000205116	ENSG00000205116			37099	protein-coding gene	gene with protein product							Standard	NM_001146685		Approved		uc010nyp.2	A6NKF7	OTTHUMG00000153395	ENST00000378821.3:c.223G>A	chr1.hg19:g.1361730G>A	ENSP00000455099:p.Ala75Thr	63.0	0.0	.		46.0	18.0	.	NM_001146685		Missense_Mutation	SNP	ENST00000378821.3	hg19	CCDS57964.1																																																																																			.	.	.	none		0.751	TMEM88B-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331012.2	NM_001146685	
CROCC	9696	hgsc.bcm.edu	37	1	17275371	17275371	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:17275371A>T	ENST00000375541.5	+	19	2855	c.2786A>T	c.(2785-2787)cAg>cTg	p.Q929L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCCGGGAGCAGCTGGAAGCC	0.662																																					p.Q929L		Atlas-SNP	.											.	CROCC	185	.	0			c.A2786T						PASS	.						22.0	27.0	26.0					1																	17275371		2184	4253	6437	SO:0001583	missense	9696	exon19			GGGAGCAGCTGGA	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2786A>T	chr1.hg19:g.17275371A>T	ENSP00000364691:p.Gln929Leu	314.0	0.0	.		194.0	40.0	.	NM_014675		Missense_Mutation	SNP	ENST00000375541.5	hg19	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656362	0.67586	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.26518	1.73	4.38	4.38	0.52667	.	.	.	.	.	T	0.34077	0.0885	M	0.82193	2.58	0.51233	D	0.99991	P;B	0.39250	0.665;0.354	B;B	0.39805	0.31;0.31	T	0.23048	-1.0199	9	0.36615	T	0.2	.	12.1806	0.54210	1.0:0.0:0.0:0.0	.	232;929	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	L	929;810	ENSP00000364691:Q929L	ENSP00000364691:Q929L	Q	+	2	0	CROCC	17147958	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.396000	0.66297	1.923000	0.55706	0.455000	0.32223	CAG	.	.	.	none		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	
SF3A3	10946	hgsc.bcm.edu	37	1	38435391	38435391	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:38435391G>C	ENST00000373019.4	-	13	1977	c.1022C>G	c.(1021-1023)aCt>aGt	p.T341S	SF3A3_ENST00000448721.2_Missense_Mutation_p.T288S	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	341					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTTTCATGAGTGAGATGTCG	0.423																																					p.T341S		Atlas-SNP	.											.	SF3A3	37	.	0			c.C1022G						PASS	.						123.0	111.0	115.0					1																	38435391		2203	4300	6503	SO:0001583	missense	10946	exon13			TCATGAGTGAGAT	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.1022C>G	chr1.hg19:g.38435391G>C	ENSP00000362110:p.Thr341Ser	46.0	0.0	.		74.0	32.0	.	NM_006802	D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	hg19	CCDS428.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990064	0.93106	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.5	5.5	0.81552	Domain of unknown function DUF3449 (1);	0.044218	0.85682	D	0.000000	D	0.86360	0.5914	M	0.90425	3.115	0.80722	D	1	P;B	0.38048	0.616;0.003	P;B	0.53954	0.738;0.009	D	0.87158	0.2213	9	0.66056	D	0.02	-19.5305	19.7862	0.96440	0.0:0.0:1.0:0.0	.	288;341	E7EUT8;Q12874	.;SF3A3_HUMAN	S	341;288	.	ENSP00000362110:T341S	T	-	2	0	SF3A3	38207978	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	7.397000	0.79903	2.769000	0.95229	0.655000	0.94253	ACT	.	.	.	none		0.423	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802	
GUCA2A	2980	hgsc.bcm.edu	37	1	42628612	42628612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:42628612C>A	ENST00000357001.2	-	3	318	c.313G>T	c.(313-315)Gaa>Taa	p.E105*		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	105						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	guanylate cyclase activator activity (GO:0030250)|hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCACAGATTTCACATGTGCCC	0.622																																					p.E105X		Atlas-SNP	.											.	GUCA2A	9	.	0			c.G313T						PASS	.						88.0	80.0	83.0					1																	42628612		2203	4300	6503	SO:0001587	stop_gained	2980	exon3			AGATTTCACATGT	X74322	CCDS465.1	1p35-p34	2014-01-30			ENSG00000197273	ENSG00000197273		"""Endogenous ligands"""	4682	protein-coding gene	gene with protein product	"""prepro-guanylin"""	139392		GUCA2		1327879, 7892222	Standard	NM_033553		Approved	STARA	uc001chd.1	Q02747	OTTHUMG00000007023	ENST00000357001.2:c.313G>T	chr1.hg19:g.42628612C>A	ENSP00000349493:p.Glu105*	61.0	0.0	.		51.0	21.0	.	NM_033553		Nonsense_Mutation	SNP	ENST00000357001.2	hg19	CCDS465.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993331	0.54041	.	.	ENSG00000197273	ENST00000357001	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.47245	D	0.999365	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.087	12.9568	0.58432	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000349493:E105X	E	-	1	0	GUCA2A	42401199	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	3.575000	0.53870	2.440000	0.82611	0.561000	0.74099	GAA	.	.	.	none		0.622	GUCA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018306.1	NM_033553	
RAVER2	55225	hgsc.bcm.edu	37	1	65272954	65272954	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:65272954A>C	ENST00000294428.3	+	9	1555	c.1477A>C	c.(1477-1479)Aat>Cat	p.N493H	RAVER2_ENST00000371072.4_Missense_Mutation_p.N480H|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	493						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATTCTTTCCAAATCAGCACAT	0.468																																					p.N480H		Atlas-SNP	.											.	RAVER2	56	.	0			c.A1438C						PASS	.						47.0	45.0	45.0					1																	65272954		1934	4152	6086	SO:0001583	missense	55225	exon9			TTTCCAAATCAGC	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1477A>C	chr1.hg19:g.65272954A>C	ENSP00000294428:p.Asn493His	89.0	0.0	.		104.0	37.0	.	NM_018211	Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	hg19		.	.	.	.	.	.	.	.	.	.	A	6.507	0.461776	0.12342	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.34072	1.38;1.39	5.21	4.06	0.47325	.	0.485339	0.23981	N	0.042670	T	0.17408	0.0418	L	0.55481	1.735	0.80722	D	1	B	0.17667	0.023	B	0.18871	0.023	T	0.03268	-1.1054	10	0.33141	T	0.24	.	10.8402	0.46710	0.8422:0.1578:0.0:0.0	.	480	Q9HCJ3-2	.	H	480;493	ENSP00000360112:N480H;ENSP00000294428:N493H	ENSP00000294428:N493H	N	+	1	0	RAVER2	65045542	0.925000	0.31364	0.987000	0.45799	0.223000	0.24884	1.663000	0.37429	0.786000	0.33708	0.519000	0.50382	AAT	.	.	.	none		0.468	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211	
ACADM	34	hgsc.bcm.edu	37	1	76200537	76200537	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:76200537C>A	ENST00000370841.4	+	6	886	c.449C>A	c.(448-450)aCt>aAt	p.T150N	ACADM_ENST00000370834.5_Missense_Mutation_p.T183N|ACADM_ENST00000541113.1_Missense_Mutation_p.T114N|ACADM_ENST00000420607.2_Missense_Mutation_p.T154N|ACADM_ENST00000543667.1_Intron	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	150					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	GGGAGAATGACTGAGGAGCCA	0.348																																					p.T154N		Atlas-SNP	.											.	ACADM	50	.	0			c.C461A	GRCh37	CD054289	ACADM	D		PASS	.						106.0	99.0	101.0					1																	76200537		2203	4300	6503	SO:0001583	missense	34	exon6			GAATGACTGAGGA	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.449C>A	chr1.hg19:g.76200537C>A	ENSP00000359878:p.Thr150Asn	159.0	0.0	.		127.0	46.0	.	NM_001127328	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	hg19	CCDS668.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100368	0.56183	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53	5.63	2.44	0.29823	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.368444	0.31772	N	0.007086	D	0.99348	0.9771	M	0.79343	2.45	0.80722	D	1	P;B;P;P;B	0.45212	0.523;0.368;0.853;0.453;0.368	B;P;P;B;P	0.57620	0.401;0.545;0.824;0.409;0.545	D	0.99709	1.1006	10	0.72032	D	0.01	.	9.3592	0.38186	0.0:0.697:0.0:0.303	.	114;64;183;154;150	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	N	150;183;114;154	ENSP00000359878:T150N;ENSP00000359871:T183N;ENSP00000442324:T114N;ENSP00000409612:T154N	ENSP00000359871:T183N	T	+	2	0	ACADM	75973125	0.395000	0.25254	0.998000	0.56505	0.837000	0.47467	0.937000	0.28951	0.609000	0.30018	0.655000	0.94253	ACT	.	.	.	none		0.348	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
PDE4DIP	9659	hgsc.bcm.edu	37	1	144917856	144917856	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:144917856A>T	ENST00000369354.3	-	11	1619	c.1430T>A	c.(1429-1431)cTt>cAt	p.L477H	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L477H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L264H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L477H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.L640H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L543H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L614H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L614H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L640H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L477H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	477					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGCTGGCGAAGTTTCTCAAG	0.378			T	PDGFRB	MPD																																p.L640H		Atlas-SNP	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817	.	0			c.T1919A						PASS	.						250.0	262.0	258.0					1																	144917856		2203	4296	6499	SO:0001583	missense	9659	exon7			TGGCGAAGTTTCT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1430T>A	chr1.hg19:g.144917856A>T	ENSP00000358360:p.Leu477His	289.0	0.0	.		361.0	67.0	.	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163110	0.57476	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.76186	3.76;3.81;4.05;4.11;3.86;3.16;3.17;2.04;1.8;-1.0	5.78	5.78	0.91487	.	.	.	.	.	T	0.82006	0.4943	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.98;0.958;0.996;0.986;0.94	D	0.84469	0.0598	9	0.66056	D	0.02	.	14.0619	0.64804	1.0:0.0:0.0:0.0	.	640;264;477;640;543;477	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	543;477;477;640;614;614;477;477;640;640;264	ENSP00000327209:L543H;ENSP00000358360:L477H;ENSP00000358363:L477H;ENSP00000435654:L614H;ENSP00000358366:L614H;ENSP00000358357:L477H;ENSP00000358355:L477H;ENSP00000316434:L640H;ENSP00000433392:L640H;ENSP00000436791:L264H	ENSP00000327209:L543H	L	-	2	0	PDE4DIP	143629213	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.379000	0.79691	2.215000	0.71742	0.460000	0.39030	CTT	.	.	.	none		0.378	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
GPR89A	653519	hgsc.bcm.edu	37	1	145816732	145816732	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:145816732C>T	ENST00000313835.9	-	3	254	c.111G>A	c.(109-111)caG>caA	p.Q37Q	GPR89A_ENST00000462900.2_Silent_p.Q12Q|GPR89A_ENST00000454423.3_5'UTR|GPR89A_ENST00000534502.1_Silent_p.Q12Q			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	37					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GTACAACATACTGACGTATCT	0.368																																					p.Q37Q		Atlas-SNP	.											.	GPR89A	14	.	0			c.G111A						PASS	.						14.0	15.0	15.0					1																	145816732		2081	4199	6280	SO:0001819	synonymous_variant	653519	exon3			AACATACTGACGT	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.111G>A	chr1.hg19:g.145816732C>T		877.0	1.0	.		939.0	222.0	.	NM_001097612	A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	ENST00000313835.9	hg19	CCDS41377.1																																																																																			.	.	.	none		0.368	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612	
NUP210L	91181	hgsc.bcm.edu	37	1	154067632	154067632	+	Splice_Site	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:154067632C>G	ENST00000368559.3	-	15	2037	c.1966G>C	c.(1966-1968)Gct>Cct	p.A656P	NUP210L_ENST00000271854.3_Splice_Site_p.A656P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	656					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGATTTAAAGCCTGATGATAT	0.393																																					p.A656P		Atlas-SNP	.											.	NUP210L	181	.	0			c.G1966C						PASS	.						54.0	53.0	53.0					1																	154067632		1840	4079	5919	SO:0001630	splice_region_variant	91181	exon15			TTAAAGCCTGATG	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1966-1G>C	chr1.hg19:g.154067632C>G		83.0	0.0	.		113.0	41.0	.	NM_001159484	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913031	0.52439	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.25579	1.79;1.79	5.49	5.49	0.81192	.	0.202371	0.34603	N	0.003823	T	0.32793	0.0841	L	0.40543	1.245	0.44652	D	0.997636	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01476	-1.1345	10	0.32370	T	0.25	-33.2323	17.1608	0.86803	0.0:1.0:0.0:0.0	.	656;656	E7EP56;Q5VU65	.;P210L_HUMAN	P	656	ENSP00000357547:A656P;ENSP00000271854:A656P	ENSP00000271854:A656P	A	-	1	0	NUP210L	152334256	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	3.005000	0.49521	2.569000	0.86673	0.555000	0.69702	GCT	.	.	.	none		0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	Missense_Mutation
NCF2	4688	hgsc.bcm.edu	37	1	183543737	183543737	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:183543737A>T	ENST00000367535.3	-	4	637	c.386T>A	c.(385-387)tTc>tAc	p.F129Y	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Missense_Mutation_p.F129Y|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	129					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GGCATACATGAAAGCAATGTT	0.438																																					p.F129Y		Atlas-SNP	.											.	NCF2	69	.	0			c.T386A						PASS	.						188.0	171.0	177.0					1																	183543737		2203	4300	6503	SO:0001583	missense	4688	exon5			TACATGAAAGCAA	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.386T>A	chr1.hg19:g.183543737A>T	ENSP00000356505:p.Phe129Tyr	65.0	0.0	.		113.0	37.0	.	NM_001127651	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	hg19	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348077	0.82132	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000367535	T;T	0.65549	-0.16;-0.16	5.32	4.19	0.49359	Tetratricopeptide-like helical (1);	0.309294	0.36893	N	0.002350	T	0.58090	0.2098	L	0.36672	1.1	0.80722	D	1	P	0.41131	0.739	P	0.46076	0.503	T	0.60697	-0.7212	10	0.87932	D	0	-10.1463	11.0383	0.47816	0.9268:0.0:0.0732:0.0	.	129	P19878	NCF2_HUMAN	Y	129;157;129	ENSP00000356506:F129Y;ENSP00000356505:F129Y	ENSP00000356505:F129Y	F	-	2	0	NCF2	181810360	0.990000	0.36364	0.986000	0.45419	0.961000	0.63080	7.871000	0.87180	0.969000	0.38237	0.533000	0.62120	TTC	.	.	.	none		0.438	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433	
PRELP	5549	hgsc.bcm.edu	37	1	203452750	203452750	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:203452750G>T	ENST00000343110.2	+	2	565	c.438G>T	c.(436-438)ctG>ctT	p.L146L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	146					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGGGTGCTGGAGAAACTGC	0.592																																					p.L146L		Atlas-SNP	.											.	PRELP	63	.	0			c.G438T						PASS	.						87.0	87.0	87.0					1																	203452750		2203	4300	6503	SO:0001819	synonymous_variant	5549	exon2			GGTGCTGGAGAAA	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.438G>T	chr1.hg19:g.203452750G>T		224.0	0.0	.		166.0	61.0	.	NM_201348	Q6FG38	Silent	SNP	ENST00000343110.2	hg19	CCDS1438.1																																																																																			.	.	.	none		0.592	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725	
PUM2	23369	hgsc.bcm.edu	37	2	20463043	20463043	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:20463043T>A	ENST00000361078.2	-	13	2158	c.2136A>T	c.(2134-2136)gaA>gaT	p.E712D	PUM2_ENST00000536417.1_Missense_Mutation_p.E656D|PUM2_ENST00000403432.1_Missense_Mutation_p.E712D|PUM2_ENST00000319801.5_Missense_Mutation_p.E633D|PUM2_ENST00000338086.5_Missense_Mutation_p.E712D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	712	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGAAATCTTCCAATAATC	0.443																																					p.E712D		Atlas-SNP	.											.	PUM2	91	.	0			c.A2136T						PASS	.						68.0	69.0	68.0					2																	20463043		2203	4300	6503	SO:0001583	missense	23369	exon13			GAAATCTTCCAAT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2136A>T	chr2.hg19:g.20463043T>A	ENSP00000354370:p.Glu712Asp	109.0	0.0	.		115.0	74.0	.	NM_015317	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	hg19		.	.	.	.	.	.	.	.	.	.	T	14.84	2.655861	0.47467	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.50993	1.605	0.58432	D	0.999992	B;B;B;P	0.45594	0.001;0.04;0.068;0.862	B;B;B;P	0.56788	0.005;0.042;0.091;0.806	T	0.01290	-1.1394	10	0.39692	T	0.17	-15.117	8.3961	0.32557	0.0:0.146:0.0:0.854	.	656;633;712;712	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	D	712;712;633;524;712;656	ENSP00000338173:E712D;ENSP00000354370:E712D;ENSP00000326746:E633D;ENSP00000409905:E524D;ENSP00000385992:E712D;ENSP00000440093:E656D	ENSP00000326746:E633D	E	-	3	2	PUM2	20326524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.113000	0.41902	2.171000	0.68590	0.533000	0.62120	GAA	.	.	.	none		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317	
SLC8A1	6546	hgsc.bcm.edu	37	2	40387976	40387976	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:40387976G>T	ENST00000403092.1	-	9	2231	c.2198C>A	c.(2197-2199)aCa>aAa	p.T733K	SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T733K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T697K|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T728K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T728K|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T697K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T697K|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T697K|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T697K|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T725K|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	733					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGCCAGGTTTGTCTTCTTAAT	0.413																																					p.T733K		Atlas-SNP	.											.	SLC8A1	221	.	0			c.C2198A						PASS	.						133.0	128.0	130.0					2																	40387976		2203	4300	6503	SO:0001583	missense	6546	exon8			AGGTTTGTCTTCT		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2198C>A	chr2.hg19:g.40387976G>T	ENSP00000384763:p.Thr733Lys	49.0	0.0	.		104.0	83.0	.	NM_021097	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	hg19	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762222	0.69763	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.30448	1.56;1.57;1.58;1.57;1.56;1.56;1.58;1.53;1.56;1.56	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.72479	2.2	0.80722	D	1	D;D;P;P	0.57899	0.96;0.981;0.57;0.893	P;P;B;B	0.61397	0.888;0.604;0.274;0.344	T	0.51957	-0.8639	10	0.56958	D	0.05	.	17.4714	0.87647	0.0:0.0:1.0:0.0	.	697;720;728;733	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	K	697;733;728;733;728;697;697;733;725;720;697;697	ENSP00000383886:T697K;ENSP00000440727:T728K;ENSP00000384763:T733K;ENSP00000385678:T728K;ENSP00000385188:T697K;ENSP00000385535:T697K;ENSP00000332931:T733K;ENSP00000384908:T725K;ENSP00000385811:T697K;ENSP00000443515:T697K	ENSP00000332931:T733K	T	-	2	0	SLC8A1	40241480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.498000	0.97972	2.788000	0.95919	0.650000	0.86243	ACA	.	.	.	none		0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
GFPT1	2673	hgsc.bcm.edu	37	2	69575353	69575353	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:69575353G>T	ENST00000357308.4	-	11	1137	c.959C>A	c.(958-960)cCc>cAc	p.P320H	GFPT1_ENST00000361060.5_Missense_Mutation_p.P302H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	320	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AGCTCGTCCGGGGTGATCTCC	0.453																																					p.P320H		Atlas-SNP	.											.	GFPT1	38	.	0			c.C959A						PASS	.						170.0	155.0	160.0					2																	69575353		2203	4300	6503	SO:0001583	missense	2673	exon11			CGTCCGGGGTGAT		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.959C>A	chr2.hg19:g.69575353G>T	ENSP00000349860:p.Pro320His	66.0	0.0	.		113.0	5.0	.	NM_001244710	Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	hg19	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693268	0.48202	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.44083	0.95;0.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	N	0.01446	-0.86	0.80722	D	1	P	0.48162	0.906	P	0.61592	0.891	T	0.52457	-0.8573	10	0.27082	T	0.32	-14.1203	18.5685	0.91126	0.0:0.0:1.0:0.0	.	302	Q06210-2	.	H	320;302	ENSP00000349860:P320H;ENSP00000354347:P302H	ENSP00000349860:P320H	P	-	2	0	GFPT1	69428857	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.613000	0.98350	2.861000	0.98227	0.655000	0.94253	CCC	.	.	.	none		0.453	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
TMEM87B	84910	hgsc.bcm.edu	37	2	112858240	112858240	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:112858240T>A	ENST00000283206.4	+	15	1787	c.1418T>A	c.(1417-1419)aTt>aAt	p.I473N	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	473						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GATGATGAAATTGAGGAATTC	0.294																																					p.I473N		Atlas-SNP	.											.	TMEM87B	52	.	0			c.T1418A						PASS	.						92.0	94.0	93.0					2																	112858240		2202	4290	6492	SO:0001583	missense	84910	exon15			ATGAAATTGAGGA	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1418T>A	chr2.hg19:g.112858240T>A	ENSP00000283206:p.Ile473Asn	152.0	0.0	.		215.0	154.0	.	NM_032824	A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	hg19	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977833	0.53720	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.85	4.68	0.58851	.	0.677566	0.15093	N	0.280964	T	0.41766	0.1173	N	0.19112	0.55	0.40147	D	0.976904	B	0.02656	0.0	B	0.06405	0.002	T	0.18777	-1.0326	9	0.32370	T	0.25	-5.7707	10.6417	0.45596	0.1437:0.0:0.0:0.8563	.	473	Q96K49	TM87B_HUMAN	N	473	.	ENSP00000283206:I473N	I	+	2	0	TMEM87B	112574711	1.000000	0.71417	0.920000	0.36463	0.996000	0.88848	2.567000	0.45956	1.013000	0.39391	0.528000	0.53228	ATT	.	.	.	none		0.294	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	
PDCD6IP	10015	hgsc.bcm.edu	37	3	33894165	33894165	+	Silent	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr3:33894165A>G	ENST00000307296.3	+	13	2204	c.1827A>G	c.(1825-1827)ggA>ggG	p.G609G	PDCD6IP_ENST00000457054.2_Silent_p.G614G			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	609	Interaction with EIAV p9.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GAGTCTATGGAGGTCTTACAA	0.338																																					p.G614G		Atlas-SNP	.											.	PDCD6IP	62	.	0			c.A1842G						PASS	.						14.0	15.0	14.0					3																	33894165		1895	4059	5954	SO:0001819	synonymous_variant	10015	exon13			CTATGGAGGTCTT	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1827A>G	chr3.hg19:g.33894165A>G		570.0	1.0	.		476.0	137.0	.	NM_001162429	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	hg19	CCDS2660.1																																																																																			.	.	.	none		0.338	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
SCAP	22937	hgsc.bcm.edu	37	3	47476560	47476560	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr3:47476560A>T	ENST00000265565.5	-	3	602	c.190T>A	c.(190-192)Tac>Aac	p.Y64N	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	64					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGGGGCGAGTAATCCTTCACA	0.547																																					p.Y64N	Pancreas(149;978 1908 29304 37806 46700)	Atlas-SNP	.											.	SCAP	88	.	0			c.T190A						PASS	.						103.0	99.0	100.0					3																	47476560		2203	4300	6503	SO:0001583	missense	22937	exon3			GCGAGTAATCCTT	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.190T>A	chr3.hg19:g.47476560A>T	ENSP00000265565:p.Tyr64Asn	77.0	0.0	.		93.0	30.0	.	NM_012235	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	hg19	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649395	0.67358	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603;ENST00000448217	D	0.82167	-1.58	5.13	3.97	0.46021	.	0.000000	0.64402	D	0.000001	T	0.82024	0.4947	M	0.64997	1.995	0.80722	D	1	D	0.57257	0.979	P	0.46275	0.51	T	0.82692	-0.0331	10	0.87932	D	0	-23.869	10.7326	0.46107	0.9242:0.0:0.0758:0.0	.	64	Q12770	SCAP_HUMAN	N	64	ENSP00000265565:Y64N	ENSP00000265565:Y64N	Y	-	1	0	SCAP	47451564	1.000000	0.71417	0.976000	0.42696	0.491000	0.33493	8.686000	0.91250	0.968000	0.38212	0.379000	0.24179	TAC	.	.	.	none		0.547	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
APOD	347	hgsc.bcm.edu	37	3	195295856	195295856	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr3:195295856G>A	ENST00000343267.3	-	5	846	c.485C>T	c.(484-486)tCt>tTt	p.S162F		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	162					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ATTTTTTAGAGAGTCCACTGT	0.453																																					p.S162F		Atlas-SNP	.											.	APOD	28	.	0			c.C485T						PASS	.						159.0	162.0	161.0					3																	195295856		2203	4300	6503	SO:0001583	missense	347	exon5			TTTAGAGAGTCCA		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.485C>T	chr3.hg19:g.195295856G>A	ENSP00000345179:p.Ser162Phe	166.0	0.0	.		172.0	65.0	.	NM_001647	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	ENST00000343267.3	hg19	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.646465	0.00792	.	.	ENSG00000189058	ENST00000343267;ENST00000421243	T;T	0.31247	1.5;1.5	6.06	3.67	0.42095	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.835345	0.11357	N	0.572291	T	0.14442	0.0349	N	0.05534	-0.03	0.09310	N	1	B	0.13145	0.007	B	0.17433	0.018	T	0.36890	-0.9729	10	0.13108	T	0.6	-1.0985	6.7986	0.23738	0.1584:0.0:0.1521:0.6895	.	162	P05090	APOD_HUMAN	F	162;190	ENSP00000345179:S162F;ENSP00000415235:S190F	ENSP00000345179:S162F	S	-	2	0	APOD	196777145	0.001000	0.12720	0.022000	0.16811	0.040000	0.13550	1.156000	0.31712	0.513000	0.28278	-1.551000	0.00897	TCT	.	.	.	none		0.453	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647	
SEL1L3	23231	hgsc.bcm.edu	37	4	25785855	25785855	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr4:25785855A>T	ENST00000399878.3	-	14	2397	c.2275T>A	c.(2275-2277)Tcc>Acc	p.S759T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.S724T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S606T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	759						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTTACCTTGGAAGCTGCTTTC	0.448																																					p.S759T		Atlas-SNP	.											.	SEL1L3	62	.	0			c.T2275A						PASS	.						219.0	220.0	220.0					4																	25785855		2029	4181	6210	SO:0001583	missense	23231	exon14			CCTTGGAAGCTGC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2275T>A	chr4.hg19:g.25785855A>T	ENSP00000382767:p.Ser759Thr	56.0	0.0	.		108.0	35.0	.	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	hg19	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077669	0.36662	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.51574	0.7;0.7;0.7	5.58	4.35	0.52113	Tetratricopeptide-like helical (1);	0.265568	0.36303	N	0.002662	T	0.28167	0.0695	N	0.08118	0	0.29071	N	0.883281	B;P	0.39424	0.08;0.673	B;B	0.37550	0.098;0.253	T	0.21008	-1.0258	10	0.44086	T	0.13	-8.4038	13.1165	0.59303	0.7915:0.2085:0.0:0.0	.	166;759	B4DTH5;Q68CR1	.;SE1L3_HUMAN	T	759;724;606	ENSP00000382767:S759T;ENSP00000264868:S724T;ENSP00000425438:S606T	ENSP00000264868:S724T	S	-	1	0	SEL1L3	25394953	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.145000	0.31577	2.136000	0.66102	0.454000	0.30748	TCC	.	.	.	none		0.448	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
ANKRD50	57182	hgsc.bcm.edu	37	4	125591071	125591071	+	Missense_Mutation	SNP	G	G	T	rs143672935		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr4:125591071G>T	ENST00000504087.1	-	4	4398	c.3361C>A	c.(3361-3363)Cta>Ata	p.L1121I	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L942I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1121										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AATGACTGTAGAGGTTTTTGC	0.383																																					p.L1121I		Atlas-SNP	.											.	ANKRD50	136	.	0			c.C3361A						PASS	.						117.0	114.0	115.0					4																	125591071		2203	4300	6503	SO:0001583	missense	57182	exon4			ACTGTAGAGGTTT	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3361C>A	chr4.hg19:g.125591071G>T	ENSP00000425658:p.Leu1121Ile	68.0	0.0	.		131.0	41.0	.	NM_020337	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	hg19	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565272	0.27915	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.69040	-0.37;-0.34	5.19	4.26	0.50523	.	0.159771	0.42420	D	0.000714	T	0.41994	0.1183	N	0.14661	0.345	0.27106	N	0.962509	B	0.23058	0.079	B	0.20384	0.029	T	0.09314	-1.0680	10	0.25751	T	0.34	.	4.2251	0.10577	0.2905:0.0:0.7095:0.0	.	1121	Q9ULJ7	ANR50_HUMAN	I	1121;942	ENSP00000425658:L1121I;ENSP00000425355:L942I	ENSP00000425658:L1121I	L	-	1	2	ANKRD50	125810521	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	5.349000	0.66010	2.698000	0.92095	0.561000	0.74099	CTA	.	G|1.000;A|0.000	.	alt		0.383	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
C6	729	hgsc.bcm.edu	37	5	41199944	41199944	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:41199944A>T	ENST00000263413.3	-	4	635	c.371T>A	c.(370-372)tTt>tAt	p.F124Y	C6_ENST00000337836.5_Missense_Mutation_p.F124Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	124	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCATGGTTGAAAGGCTACCAG	0.428																																					p.F124Y		Atlas-SNP	.											.	C6	197	.	0			c.T371A						PASS	.						107.0	103.0	104.0					5																	41199944		2203	4300	6503	SO:0001583	missense	729	exon4			GGTTGAAAGGCTA	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.371T>A	chr5.hg19:g.41199944A>T	ENSP00000263413:p.Phe124Tyr	97.0	0.0	.		166.0	54.0	.	NM_001115131		Missense_Mutation	SNP	ENST00000263413.3	hg19	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696782	0.30142	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.54866	0.55;0.55;0.55	6.02	-2.3	0.06785	.	0.396912	0.30620	N	0.009226	T	0.39253	0.1071	L	0.50333	1.59	0.20926	N	0.999822	B	0.12013	0.005	B	0.13407	0.009	T	0.29518	-1.0009	10	0.49607	T	0.09	-9.092	7.3592	0.26737	0.265:0.0:0.5786:0.1564	.	124	P13671	CO6_HUMAN	Y	124	ENSP00000338861:F124Y;ENSP00000263413:F124Y;ENSP00000396565:F124Y	ENSP00000263413:F124Y	F	-	2	0	C6	41235701	0.990000	0.36364	0.821000	0.32701	0.114000	0.19823	0.769000	0.26604	-0.309000	0.08779	-0.924000	0.02725	TTT	.	.	.	none		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
SGTB	54557	hgsc.bcm.edu	37	5	65000107	65000107	+	Splice_Site	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:65000107T>A	ENST00000381007.4	-	5	608	c.373A>T	c.(373-375)Agg>Tgg	p.R125W		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	125										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CTAGTTTACCTGTTGCAATAG	0.328																																					p.R125W		Atlas-SNP	.											.	SGTB	22	.	0			c.A373T						PASS	.						123.0	114.0	117.0					5																	65000107		2202	4300	6502	SO:0001630	splice_region_variant	54557	exon5			TTTACCTGTTGCA	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.374+1A>T	chr5.hg19:g.65000107T>A		78.0	0.0	.		76.0	29.0	.	NM_019072		Missense_Mutation	SNP	ENST00000381007.4	hg19	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.563251	0.86335	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.65178	-0.14;-0.14	5.56	4.33	0.51752	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90322	0.4345	10	0.87932	D	0	-13.1767	11.4293	0.50029	0.0:0.0:0.1509:0.8491	.	125	Q96EQ0	SGTB_HUMAN	W	125	ENSP00000370395:R125W;ENSP00000421447:R125W	ENSP00000370395:R125W	R	-	1	2	SGTB	65035863	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.100000	0.64560	2.110000	0.64415	0.533000	0.62120	AGG	.	.	.	none		0.328	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072	Missense_Mutation
MAP1B	4131	hgsc.bcm.edu	37	5	71490573	71490573	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:71490573C>G	ENST00000296755.7	+	5	1689	c.1391C>G	c.(1390-1392)tCc>tGc	p.S464C		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	464					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCCCGATTTCCTACTTAACT	0.453																																					p.S464C	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.C1391G						PASS	.						93.0	94.0	94.0					5																	71490573		2203	4300	6503	SO:0001583	missense	4131	exon5			CGATTTCCTACTT	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1391C>G	chr5.hg19:g.71490573C>G	ENSP00000296755:p.Ser464Cys	105.0	0.0	.		103.0	30.0	.	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882436	0.51908	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.04194	3.68;3.68;3.68	5.63	5.63	0.86233	.	0.103851	0.43416	D	0.000571	T	0.09202	0.0227	L	0.43152	1.355	0.53688	D	0.999972	D;P	0.56287	0.975;0.948	P;P	0.48901	0.594;0.514	T	0.01096	-1.1453	10	0.87932	D	0	-6.3887	14.5221	0.67856	0.1465:0.8535:0.0:0.0	.	338;464	A2BDK6;P46821	.;MAP1B_HUMAN	C	464;481;338	ENSP00000296755:S464C;ENSP00000423444:S481C;ENSP00000423416:S338C	ENSP00000296755:S464C	S	+	2	0	MAP1B	71526329	1.000000	0.71417	0.998000	0.56505	0.678000	0.39670	4.720000	0.61944	2.644000	0.89710	0.563000	0.77884	TCC	.	.	.	none		0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
IQGAP2	10788	hgsc.bcm.edu	37	5	75960919	75960919	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:75960919C>T	ENST00000274364.6	+	22	2895	c.2598C>T	c.(2596-2598)acC>acT	p.T866T	IQGAP2_ENST00000502745.1_Silent_p.T362T|IQGAP2_ENST00000379730.3_Silent_p.T368T|IQGAP2_ENST00000396234.3_Silent_p.T362T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	866					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGAATAACACCGACAACCAAG	0.323																																					p.T866T		Atlas-SNP	.											.	IQGAP2	186	.	0			c.C2598T						PASS	.						121.0	116.0	118.0					5																	75960919		2203	4300	6503	SO:0001819	synonymous_variant	10788	exon22			TAACACCGACAAC	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2598C>T	chr5.hg19:g.75960919C>T		257.0	0.0	.		327.0	21.0	.	NM_006633	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	hg19	CCDS34188.1																																																																																			.	.	.	none		0.323	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
ARSB	411	hgsc.bcm.edu	37	5	78135234	78135234	+	Silent	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:78135234G>A	ENST00000264914.4	-	6	1694	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	ARSB_ENST00000565165.1_Silent_p.S386S|ARSB_ENST00000396151.3_Silent_p.S386S	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	386					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CAATTCTGGGGGATGGGCTTC	0.403																																					p.S386S	Melanoma(169;563 1968 25780 26156 52266)	Atlas-SNP	.											.	ARSB	47	.	0			c.C1158T						PASS	.						121.0	122.0	122.0					5																	78135234		2203	4300	6503	SO:0001819	synonymous_variant	411	exon7			TCTGGGGGATGGG	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1158C>T	chr5.hg19:g.78135234G>A		81.0	0.0	.		97.0	26.0	.	NM_198709	B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	hg19	CCDS4043.1																																																																																			.	.	.	none		0.403	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046	
ARRDC3	57561	hgsc.bcm.edu	37	5	90669556	90669556	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:90669556G>T	ENST00000265138.3	-	7	1399	c.1133C>A	c.(1132-1134)cCa>cAa	p.P378Q	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	378					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TGCAAACAGTGGTCCTTGAAG	0.463																																					p.P378Q		Atlas-SNP	.											.	ARRDC3	56	.	0			c.C1133A						PASS	.						180.0	157.0	165.0					5																	90669556		2203	4300	6503	SO:0001583	missense	57561	exon7			AACAGTGGTCCTT	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1133C>A	chr5.hg19:g.90669556G>T	ENSP00000265138:p.Pro378Gln	180.0	0.0	.		239.0	65.0	.	NM_020801	A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	hg19	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835200	0.91117	.	.	ENSG00000113369	ENST00000265138	T	0.10668	2.85	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	M	0.73962	2.25	0.80722	D	1	P	0.48911	0.917	B	0.38655	0.278	T	0.02173	-1.1201	10	0.49607	T	0.09	-11.4537	20.1986	0.98248	0.0:0.0:1.0:0.0	.	378	Q96B67	ARRD3_HUMAN	Q	378	ENSP00000265138:P378Q	ENSP00000265138:P378Q	P	-	2	0	ARRDC3	90705312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.881000	0.87252	2.781000	0.95711	0.650000	0.86243	CCA	.	.	.	none		0.463	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801	
GRIA1	2890	hgsc.bcm.edu	37	5	153144063	153144063	+	Silent	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:153144063A>G	ENST00000285900.5	+	12	2236	c.1893A>G	c.(1891-1893)acA>acG	p.T631T	GRIA1_ENST00000448073.4_Silent_p.T641T|GRIA1_ENST00000518142.1_Silent_p.T551T|GRIA1_ENST00000521843.2_Silent_p.T562T|GRIA1_ENST00000340592.5_Silent_p.T631T|GRIA1_ENST00000518783.1_Silent_p.T641T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	631					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCTCATATACAGCCAATCTGG	0.562																																					p.T641T		Atlas-SNP	.											.	GRIA1	321	.	0			c.A1923G						PASS	.						130.0	110.0	117.0					5																	153144063		2203	4300	6503	SO:0001819	synonymous_variant	2890	exon12			ATATACAGCCAAT		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1893A>G	chr5.hg19:g.153144063A>G		98.0	0.0	.		127.0	43.0	.	NM_001258021	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	hg19	CCDS4322.1																																																																																			.	.	.	none		0.562	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
ADAM19	8728	hgsc.bcm.edu	37	5	156915305	156915305	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:156915305T>G	ENST00000517905.1	-	21	2562	c.2518A>C	c.(2518-2520)Att>Ctt	p.I840L	ADAM19_ENST00000394020.1_Missense_Mutation_p.I842L|ADAM19_ENST00000257527.4_Missense_Mutation_p.I840L|ADAM19_ENST00000430702.2_Missense_Mutation_p.I573L			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	840					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGGGGGAATTGGCCGGCTT	0.567																																					p.I840L		Atlas-SNP	.											.	ADAM19	216	.	0			c.A2518C						PASS	.						94.0	100.0	98.0					5																	156915305		2203	4300	6503	SO:0001583	missense	8728	exon21			GGGGAATTGGCCG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2518A>C	chr5.hg19:g.156915305T>G	ENSP00000428654:p.Ile840Leu	139.0	0.0	.		127.0	38.0	.	NM_033274	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.470|0.470	-0.884725|-0.884725	0.02530|0.02530	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T;T|.	0.01430|.	4.9;5.05;5.07;5.04|.	5.69|5.69	2.82|2.82	0.32997|0.32997	.|.	0.572734|.	0.16805|.	N|.	0.198802|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.03608|0.03608	-0.345|-0.345	0.20489|0.20489	N|N	0.999891|0.999891	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.001;0.0;0.002|.	T|T	0.27400|0.27400	-1.0075|-1.0075	10|5	0.02654|.	T|.	1|.	.|.	8.9891|8.9891	0.36012|0.36012	0.0:0.7653:0.0:0.2347|0.0:0.7653:0.0:0.2347	.|.	840;840;573|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	L|H	573;840;842;840|410	ENSP00000414088:I573L;ENSP00000257527:I840L;ENSP00000377588:I842L;ENSP00000428654:I840L|.	ENSP00000257527:I840L|.	I|Q	-|-	1|3	0|2	ADAM19|ADAM19	156847883|156847883	0.245000|0.245000	0.23899|0.23899	0.340000|0.340000	0.25575|0.25575	0.278000|0.278000	0.26855|0.26855	0.407000|0.407000	0.21049|0.21049	0.321000|0.321000	0.23259|0.23259	-0.608000|-0.608000	0.04076|0.04076	ATT|CAA	.	.	.	none		0.567	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	
CLINT1	9685	hgsc.bcm.edu	37	5	157285937	157285937	+	Splice_Site	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:157285937C>G	ENST00000411809.2	-	1	246		c.e1+1		CLINT1_ENST00000523908.1_Splice_Site|CLINT1_ENST00000523094.1_Intron|CLINT1_ENST00000530742.1_Intron|CLINT1_ENST00000296951.5_Splice_Site	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1						clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGATACTCACGCTTTGTCCA	0.701																																					.	Colon(22;427 587 2170 6147 14291)	Atlas-SNP	.											.	CLINT1	86	.	0			c.41+1G>C						PASS	.						37.0	42.0	40.0					5																	157285937		1998	4152	6150	SO:0001630	splice_region_variant	9685	exon2			TACTCACGCTTTG	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.41+1G>C	chr5.hg19:g.157285937C>G		178.0	0.0	.		117.0	41.0	.	NM_014666	B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Splice_Site	SNP	ENST00000411809.2	hg19	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275080	0.80580	.	.	ENSG00000113282	ENST00000411809;ENST00000523908	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.049	0.71850	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLINT1	157218515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.146000	0.64845	2.249000	0.74217	0.655000	0.94253	.	.	.	.	none		0.701	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666	Intron
FOXI1	2299	hgsc.bcm.edu	37	5	169532985	169532985	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:169532985G>T	ENST00000306268.6	+	1	85	c.24G>T	c.(22-24)gcG>gcT	p.A8A	FOXI1_ENST00000449804.2_Silent_p.A8A			Q12951	FOXI1_HUMAN	forkhead box I1	8	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTGCCGGCGCCCTCCCCAC	0.692									Pendred syndrome																												p.A8A		Atlas-SNP	.											FOXI1,caecum,carcinoma,0,1	FOXI1	70	.	0			c.G24T						PASS	.						17.0	20.0	19.0					5																	169532985		2201	4295	6496	SO:0001819	synonymous_variant	2299	exon1	Familial Cancer Database	Goiter-Deafness syndrome	GCCGGCGCCCTCC	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.24G>T	chr5.hg19:g.169532985G>T		269.0	0.0	.		221.0	67.0	.	NM_012188	Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	hg19	CCDS4372.1																																																																																			.	.	.	none		0.692	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
CANX	821	hgsc.bcm.edu	37	5	179150705	179150705	+	Silent	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:179150705G>A	ENST00000247461.4	+	12	1643	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P	CANX_ENST00000415618.2_Silent_p.P516P|CANX_ENST00000504734.1_Silent_p.P481P|CANX_ENST00000512607.2_Silent_p.P373P|CANX_ENST00000452673.2_Silent_p.P481P	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	481					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	AAGAGCGCCCGTGGCTGTGGG	0.473																																					p.P481P		Atlas-SNP	.											.	CANX	47	.	0			c.G1443A						PASS	.						142.0	141.0	141.0					5																	179150705		2203	4300	6503	SO:0001819	synonymous_variant	821	exon12			GCGCCCGTGGCTG	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1443G>A	chr5.hg19:g.179150705G>A		97.0	0.0	.		91.0	29.0	.	NM_001746	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	ENST00000247461.4	hg19	CCDS4447.1																																																																																			.	.	.	none		0.473	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649	
RIPK1	8737	hgsc.bcm.edu	37	6	3104478	3104478	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:3104478A>G	ENST00000259808.4	+	8	1233	c.935A>G	c.(934-936)aAt>aGt	p.N312S	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.N266S|RIPK1_ENST00000380409.2_Missense_Mutation_p.N312S			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	312	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCAAACGAAAATGCAGTTGTG	0.348																																					p.N312S		Atlas-SNP	.											.	RIPK1	56	.	0			c.A935G						PASS	.						99.0	97.0	97.0					6																	3104478		2203	4300	6503	SO:0001583	missense	8737	exon7			ACGAAAATGCAGT	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.935A>G	chr6.hg19:g.3104478A>G	ENSP00000259808:p.Asn312Ser	103.0	0.0	.		76.0	25.0	.	NM_003804	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	hg19	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.402975	0.25291	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.76968	-1.06;-0.52;-1.06	5.07	1.4	0.22301	Protein kinase-like domain (1);	0.441952	0.29624	N	0.011622	T	0.31796	0.0808	N	0.20401	0.57	0.23254	N	0.998037	B;B	0.18310	0.027;0.008	B;B	0.17722	0.019;0.004	T	0.28902	-1.0029	10	0.12103	T	0.63	-19.08	4.2271	0.10585	0.6064:0.0:0.2524:0.1412	.	266;312	Q13546-2;Q13546	.;RIPK1_HUMAN	S	312;266;312	ENSP00000259808:N312S;ENSP00000442294:N266S;ENSP00000369773:N312S	ENSP00000259808:N312S	N	+	2	0	RIPK1	3049477	0.001000	0.12720	0.004000	0.12327	0.470000	0.32858	0.552000	0.23376	0.062000	0.16340	0.528000	0.53228	AAT	.	.	.	none		0.348	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804	
CPNE5	57699	hgsc.bcm.edu	37	6	36746667	36746667	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:36746667G>T	ENST00000244751.2	-	9	1220	c.596C>A	c.(595-597)cCc>cAc	p.P199H		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	199	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TACCAAGAAGGGGTCAGATTT	0.542																																					p.P199H		Atlas-SNP	.											.	CPNE5	56	.	0			c.C596A						PASS	.						231.0	212.0	218.0					6																	36746667		2203	4300	6503	SO:0001583	missense	57699	exon9			AAGAAGGGGTCAG	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.596C>A	chr6.hg19:g.36746667G>T	ENSP00000244751:p.Pro199His	160.0	0.0	.		124.0	45.0	.	NM_020939	Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	hg19	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697643	0.88830	.	.	ENSG00000124772	ENST00000244751	T	0.78003	-1.14	5.22	5.22	0.72569	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95764	0.8803	10	0.87932	D	0	.	16.6249	0.84967	0.0:0.0:1.0:0.0	.	199	Q9HCH3	CPNE5_HUMAN	H	199	ENSP00000244751:P199H	ENSP00000244751:P199H	P	-	2	0	CPNE5	36854645	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.349000	0.97066	2.613000	0.88420	0.579000	0.79373	CCC	.	.	.	none		0.542	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939	
MRPS10	55173	hgsc.bcm.edu	37	6	42179572	42179572	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:42179572A>T	ENST00000053468.3	-	4	285	c.270T>A	c.(268-270)agT>agA	p.S90R		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	90						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			AATATTCATAACTGTCCAATA	0.398																																					p.S90R		Atlas-SNP	.											.	MRPS10	9	.	0			c.T270A						PASS	.						123.0	117.0	119.0					6																	42179572		2203	4300	6503	SO:0001583	missense	55173	exon4			TTCATAACTGTCC		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"""Mitochondrial ribosomal proteins / small subunits"""	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.270T>A	chr6.hg19:g.42179572A>T	ENSP00000053468:p.Ser90Arg	92.0	0.0	.		92.0	32.0	.	NM_018141	B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	hg19	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106048	0.77096	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.78	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63462	-0.6632	9	0.66056	D	0.02	-14.4952	10.3265	0.43796	0.6463:0.0:0.3537:0.0	.	90	P82664	RT10_HUMAN	R	90	.	ENSP00000053468:S90R	S	-	3	2	MRPS10	42287550	1.000000	0.71417	0.809000	0.32408	0.994000	0.84299	1.312000	0.33574	-0.415000	0.07484	-0.274000	0.10170	AGT	.	.	.	none		0.398	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1		
TBC1D32	221322	hgsc.bcm.edu	37	6	121447579	121447579	+	Silent	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:121447579C>A	ENST00000398212.2	-	26	2977	c.2928G>T	c.(2926-2928)gtG>gtT	p.V976V	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Silent_p.V1017V	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	976					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TGAGATGAAGCACAAATTTTT	0.318																																					p.V976V		Atlas-SNP	.											.	C6orf170	146	.	0			c.G2928T						PASS	.						107.0	102.0	103.0					6																	121447579		1821	4080	5901	SO:0001819	synonymous_variant	221322	exon26			ATGAAGCACAAAT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2928G>T	chr6.hg19:g.121447579C>A		61.0	0.0	.		106.0	25.0	.	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	hg19	CCDS43501.1																																																																																			.	.	.	none		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
PCMT1	5110	hgsc.bcm.edu	37	6	150070960	150070960	+	5'UTR	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:150070960G>A	ENST00000367380.5	+	0	130				NUP43_ENST00000463048.3_5'Flank|PCMT1_ENST00000544496.1_5'UTR|PCMT1_ENST00000367378.1_Missense_Mutation_p.V33I|PCMT1_ENST00000464889.1_Missense_Mutation_p.V33I|PCMT1_ENST00000367384.2_Missense_Mutation_p.V33I	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase						protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		gtgggaggtggTCTCACTCTT	0.687																																					p.V33I		Atlas-SNP	.											.	PCMT1	27	.	0			c.G97A						PASS	.						90.0	115.0	107.0					6																	150070960		692	1591	2283	SO:0001623	5_prime_UTR_variant	5110	exon1			GAGGTGGTCTCAC		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.-78G>A	chr6.hg19:g.150070960G>A		73.0	0.0	.		55.0	17.0	.	NM_005389	A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	hg19		.	.	.	.	.	.	.	.	.	.	G	18.50	3.638391	0.67130	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889	T;T;T	0.45668	0.89;0.89;0.89	5.14	2.15	0.27550	.	.	.	.	.	T	0.17152	0.0412	L	0.44542	1.39	0.80722	D	1	B;B;B	0.28971	0.229;0.229;0.229	B;B;B	0.24006	0.05;0.05;0.05	T	0.05599	-1.0875	9	0.51188	T	0.08	.	9.3336	0.38036	0.0:0.2582:0.4735:0.2683	.	33;33;33	F8WAX2;F8WAV5;F8WDT3	.;.;.	I	33	ENSP00000356354:V33I;ENSP00000356348:V33I;ENSP00000420813:V33I	ENSP00000356348:V33I	V	+	1	0	PCMT1	150112653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.803000	0.38863	0.532000	0.28657	0.591000	0.81541	GTC	.	.	.	none		0.687	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
TULP4	56995	hgsc.bcm.edu	37	6	158915829	158915829	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:158915829A>C	ENST00000367097.3	+	11	3178	c.1821A>C	c.(1819-1821)aaA>aaC	p.K607N	TULP4_ENST00000367094.2_Missense_Mutation_p.K607N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	607					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGGGAACCAAATTTAAGATTG	0.418																																					p.K607N		Atlas-SNP	.											.	TULP4	137	.	0			c.A1821C						PASS	.						139.0	125.0	129.0					6																	158915829		2203	4300	6503	SO:0001583	missense	56995	exon11			AACCAAATTTAAG		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1821A>C	chr6.hg19:g.158915829A>C	ENSP00000356064:p.Lys607Asn	112.0	0.0	.		89.0	8.0	.	NM_020245	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	hg19	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588248	0.86851	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	D;D	0.87887	-2.31;-2.31	5.56	1.87	0.25490	Tubby, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87716	0.6247	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.83275	0.99;0.996	D	0.86643	0.1893	10	0.72032	D	0.01	-18.8341	8.5636	0.33525	0.7684:0.0:0.2316:0.0	.	607;607	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	N	607	ENSP00000356064:K607N;ENSP00000356061:K607N	ENSP00000356061:K607N	K	+	3	2	TULP4	158835817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.229000	0.42990	0.084000	0.17077	0.533000	0.62120	AAA	.	.	.	none		0.418	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
IGF2R	3482	hgsc.bcm.edu	37	6	160453699	160453699	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:160453699G>T	ENST00000356956.1	+	8	1147	c.999G>T	c.(997-999)gaG>gaT	p.E333D		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	333					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGAGCGGCGAGCAGCAGGATG	0.517																																					p.E333D		Atlas-SNP	.											.	IGF2R	251	.	0			c.G999T						PASS	.						93.0	89.0	90.0					6																	160453699		2203	4300	6503	SO:0001583	missense	3482	exon8			CGGCGAGCAGCAG	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.999G>T	chr6.hg19:g.160453699G>T	ENSP00000349437:p.Glu333Asp	60.0	0.0	.		63.0	26.0	.	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256638	0.10185	.	.	ENSG00000197081	ENST00000356956	T	0.04119	3.7	5.09	2.12	0.27331	Mannose-6-phosphate receptor, binding (1);	1.300900	0.04701	N	0.415851	T	0.02156	0.0067	L	0.56199	1.76	0.41272	D	0.986859	B	0.09022	0.002	B	0.10450	0.005	T	0.41945	-0.9480	10	0.21014	T	0.42	-9.1428	7.3787	0.26843	0.1477:0.3885:0.4638:0.0	.	333	P11717	MPRI_HUMAN	D	333	ENSP00000349437:E333D	ENSP00000349437:E333D	E	+	3	2	IGF2R	160373689	0.106000	0.21978	0.943000	0.38184	0.088000	0.18126	0.006000	0.13152	0.658000	0.30925	0.655000	0.94253	GAG	.	.	.	none		0.517	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
NUPL2	11097	hgsc.bcm.edu	37	7	23221710	23221710	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:23221710C>T	ENST00000258742.5	+	1	265	c.6C>T	c.(4-6)gcC>gcT	p.A2A	NUPL2_ENST00000410002.3_Silent_p.A2A|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	2					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCAATGGCCATTTGTCAAT	0.632																																					p.A2A		Atlas-SNP	.											.	NUPL2	51	.	0			c.C6T						PASS	.						80.0	67.0	72.0					7																	23221710		2203	4300	6503	SO:0001819	synonymous_variant	11097	exon1			AATGGCCATTTGT	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.6C>T	chr7.hg19:g.23221710C>T		47.0	0.0	.		54.0	12.0	.	NM_007342	A4D143|B4DP42|Q49AE7|Q9BS49	Silent	SNP	ENST00000258742.5	hg19	CCDS5379.1																																																																																			.	.	.	none		0.632	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342	
NME8	51314	hgsc.bcm.edu	37	7	37923905	37923905	+	Splice_Site	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:37923905A>T	ENST00000199447.4	+	13	1367	c.995A>T	c.(994-996)gAt>gTt	p.D332V	NME8_ENST00000440017.1_Splice_Site_p.D332V|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	332	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTTTATTTAGATGATGTTTTG	0.303																																					p.D332V		Atlas-SNP	.											.	.	.	.	0			c.A995T						PASS	.						80.0	77.0	78.0					7																	37923905		2202	4292	6494	SO:0001630	splice_region_variant	51314	exon13			ATTTAGATGATGT	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.995-1A>T	chr7.hg19:g.37923905A>T		134.0	0.0	.		318.0	67.0	.	NM_016616	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	hg19	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043787	0.36085	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.56275	0.47;0.47	3.85	3.85	0.44370	.	0.717261	0.12527	N	0.461140	T	0.65626	0.2709	M	0.70595	2.14	0.58432	D	0.999998	D	0.53885	0.963	P	0.58130	0.833	T	0.64364	-0.6425	9	.	.	.	.	10.9803	0.47490	1.0:0.0:0.0:0.0	.	332	Q8N427	TXND3_HUMAN	V	332	ENSP00000199447:D332V;ENSP00000397063:D332V	.	D	+	2	0	TXNDC3	37890430	0.994000	0.37717	0.997000	0.53966	0.087000	0.18053	2.623000	0.46435	1.966000	0.57179	0.477000	0.44152	GAT	.	.	.	none		0.303	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	Missense_Mutation
SAMD9	54809	hgsc.bcm.edu	37	7	92732597	92732597	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:92732597A>T	ENST00000379958.2	-	3	3083	c.2814T>A	c.(2812-2814)tgT>tgA	p.C938*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	938						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATTTTTCACACTGTGATA	0.383																																					p.C938X		Atlas-SNP	.											.	SAMD9	239	.	0			c.T2814A						PASS	.						61.0	61.0	61.0					7																	92732597		2181	4289	6470	SO:0001587	stop_gained	54809	exon2			TTTTTCACACTGT	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2814T>A	chr7.hg19:g.92732597A>T	ENSP00000369292:p.Cys938*	78.0	0.0	.		125.0	64.0	.	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	36	5.805384	0.96967	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3085	13.2668	0.60139	1.0:0.0:0.0:0.0	.	.	.	.	X	938	.	ENSP00000369292:C938X	C	-	3	2	SAMD9	92570533	1.000000	0.71417	0.970000	0.41538	0.280000	0.26924	3.958000	0.56737	2.022000	0.59522	0.496000	0.49642	TGT	.	.	.	none		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
LRWD1	222229	hgsc.bcm.edu	37	7	102108717	102108717	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:102108717T>A	ENST00000292616.5	+	7	964	c.812T>A	c.(811-813)gTg>gAg	p.V271E	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	271					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAGCCTGCTGTGAAGCTGGAG	0.662																																					p.V271E		Atlas-SNP	.											.	LRWD1	41	.	0			c.T812A						PASS	.						50.0	53.0	52.0					7																	102108717		2202	4298	6500	SO:0001583	missense	222229	exon7			CTGCTGTGAAGCT	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.812T>A	chr7.hg19:g.102108717T>A	ENSP00000292616:p.Val271Glu	112.0	0.0	.		114.0	21.0	.	NM_152892	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	hg19	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002082	0.54254	.	.	ENSG00000161036	ENST00000292616	T	0.64085	-0.08	4.94	2.59	0.31030	WD40 repeat-like-containing domain (1);	0.950099	0.08884	N	0.879606	T	0.45597	0.1350	N	0.19112	0.55	0.09310	N	1	B	0.23735	0.09	B	0.21360	0.034	T	0.38564	-0.9655	10	0.62326	D	0.03	-3.8122	6.2922	0.21067	0.0:0.1964:0.0:0.8036	.	271	Q9UFC0	LRWD1_HUMAN	E	271	ENSP00000292616:V271E	ENSP00000292616:V271E	V	+	2	0	LRWD1	101895722	0.864000	0.29904	0.021000	0.16686	0.754000	0.42855	1.484000	0.35508	0.383000	0.24910	0.459000	0.35465	GTG	.	.	.	none		0.662	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	
KCND2	3751	hgsc.bcm.edu	37	7	119915439	119915439	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:119915439G>T	ENST00000331113.4	+	1	1718	c.753G>T	c.(751-753)gcG>gcT	p.A251A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	251					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGCTGCAGCGCCTAGTCGTT	0.532																																					p.A251A		Atlas-SNP	.											.	KCND2	194	.	0			c.G753T						PASS	.						184.0	152.0	163.0					7																	119915439		2203	4300	6503	SO:0001819	synonymous_variant	3751	exon1			TGCAGCGCCTAGT	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.753G>T	chr7.hg19:g.119915439G>T		69.0	0.0	.		82.0	25.0	.	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	hg19	CCDS5776.1																																																																																			.	.	.	none		0.532	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
CALU	813	hgsc.bcm.edu	37	7	128399077	128399077	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:128399077G>C	ENST00000249364.4	+	4	670	c.568G>C	c.(568-570)Gat>Cat	p.D190H	CALU_ENST00000535011.2_Missense_Mutation_p.D190H|CALU_ENST00000538546.1_Missense_Mutation_p.D39H|CALU_ENST00000542996.2_Missense_Mutation_p.D198H|CALU_ENST00000449187.2_Missense_Mutation_p.D190H|RN7SL81P_ENST00000493781.2_RNA|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Missense_Mutation_p.D198H	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	190	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						CTACATGAAAGATATAGTAGT	0.448																																					p.D198H		Atlas-SNP	.											.	CALU	42	.	0			c.G592C						PASS	.						182.0	188.0	186.0					7																	128399077		2203	4300	6503	SO:0001583	missense	813	exon5			ATGAAAGATATAG	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.568G>C	chr7.hg19:g.128399077G>C	ENSP00000249364:p.Asp190His	160.0	0.0	.		267.0	86.0	.	NM_001199671	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	hg19	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.848469|4.848469	0.91277|0.91277	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000542996;ENST00000538394;ENST00000535011;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257|ENST00000493278	T;T;T;T;T;T|.	0.72615|.	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67|.	6.08|6.08	6.08|6.08	0.98989|0.98989	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78923|0.78923	0.4360|0.4360	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.982|.	T|T	0.78188|0.78188	-0.2301|-0.2301	10|5	0.52906|.	T|.	0.07|.	-11.1092|-11.1092	18.1659|18.1659	0.89727|0.89727	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	198;190|.	D6QS48;O43852|.	.;CALU_HUMAN|.	H|T	198;190;190;39;190;190;198|21	ENSP00000438248:D198H;ENSP00000442110:D190H;ENSP00000438994:D39H;ENSP00000249364:D190H;ENSP00000408838:D190H;ENSP00000420381:D198H|.	ENSP00000249364:D190H|.	D|R	+|+	1|2	0|0	CALU|CALU	128186313|128186313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	5.650000|5.650000	0.67944|0.67944	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAT|AGA	.	.	.	none		0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219	
PODXL	5420	hgsc.bcm.edu	37	7	131241029	131241029	+	Silent	SNP	G	G	C	rs11277659|rs547816245|rs532078953|rs79759078|rs571821675	byFrequency	TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:131241029G>C	ENST00000378555.3	-	1	337	c.90C>G	c.(88-90)ccC>ccG	p.P30P	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_Silent_p.P30P|PODXL_ENST00000541194.1_Silent_p.P30P|PODXL_ENST00000322985.9_Silent_p.P30P			O00592	PODXL_HUMAN	podocalyxin-like	30					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcg	0.751																																					p.P30P		Atlas-SNP	.											.	PODXL	53	.	0			c.C90G						PASS	.						5.0	7.0	6.0					7																	131241029		1981	3946	5927	SO:0001819	synonymous_variant	5420	exon1			CTGGGAGGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.90C>G	chr7.hg19:g.131241029G>C		134.0	0.0	.		119.0	5.0	.	NM_001018111	A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	hg19	CCDS34755.1																																																																																			.	.	.	none		0.751	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
NUP205	23165	hgsc.bcm.edu	37	7	135304279	135304279	+	Missense_Mutation	SNP	T	T	G	rs368979726		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:135304279T>G	ENST00000285968.6	+	29	4098	c.4072T>G	c.(4072-4074)Tca>Gca	p.S1358A		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1358					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAGGAAACATCAGTCTTGGG	0.512																																					p.S1358A		Atlas-SNP	.											.	NUP205	198	.	0			c.T4072G						PASS	.						105.0	97.0	100.0					7																	135304279		2203	4300	6503	SO:0001583	missense	23165	exon29			GAAACATCAGTCT	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4072T>G	chr7.hg19:g.135304279T>G	ENSP00000285968:p.Ser1358Ala	80.0	0.0	.		124.0	66.0	.	NM_015135	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.590307	0.00864	.	.	ENSG00000155561	ENST00000285968	T	0.32515	1.45	5.67	-5.37	0.02681	.	0.440675	0.20449	N	0.092139	T	0.09379	0.0231	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	10	0.07644	T	0.81	-14.6623	3.48	0.07598	0.1026:0.2499:0.415:0.2326	.	1358	Q92621	NU205_HUMAN	A	1358	ENSP00000285968:S1358A	ENSP00000285968:S1358A	S	+	1	0	NUP205	134954819	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.303000	0.08210	-0.845000	0.04179	0.397000	0.26171	TCA	.	.	.	alt		0.512	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
SHH	6469	hgsc.bcm.edu	37	7	155595950	155595950	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:155595950A>G	ENST00000297261.2	-	3	1183	c.1033T>C	c.(1033-1035)Tac>Cac	p.Y345H		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	345					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGGCGCGTAGGCGCCCGCG	0.731																																					p.Y345H		Atlas-SNP	.											.	SHH	34	.	0			c.T1033C						PASS	.						5.0	4.0	5.0					7																	155595950		1760	3591	5351	SO:0001583	missense	6469	exon3			GCGCGTAGGCGCC		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.1033T>C	chr7.hg19:g.155595950A>G	ENSP00000297261:p.Tyr345His	1212.0	0.0	.		963.0	232.0	.	NM_000193	A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	hg19	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	a	16.31	3.085965	0.55861	.	.	ENSG00000164690	ENST00000297261	D	0.99727	-6.55	3.6	3.6	0.41247	Hedgehog/intein hint domain, C-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.326281	0.29080	N	0.013202	D	0.99701	0.9886	M	0.91972	3.26	0.46542	D	0.999093	D;D	0.76494	0.997;0.999	D;D	0.77557	0.959;0.99	D	0.97578	1.0109	10	0.87932	D	0	.	12.3657	0.55226	1.0:0.0:0.0:0.0	.	345;348	Q15465;D9ZGF9	SHH_HUMAN;.	H	345	ENSP00000297261:Y345H	ENSP00000297261:Y345H	Y	-	1	0	SHH	155288711	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	8.289000	0.89923	1.502000	0.48669	0.398000	0.26397	TAC	.	.	.	none		0.731	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193	
DLC1	10395	hgsc.bcm.edu	37	8	13251117	13251117	+	Missense_Mutation	SNP	G	G	C	rs528243762		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr8:13251117G>C	ENST00000276297.4	-	4	1668	c.1259C>G	c.(1258-1260)aCg>aGg	p.T420R	DLC1_ENST00000511869.1_Missense_Mutation_p.T420R|DLC1_ENST00000316609.5_Missense_Mutation_p.T420R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	420					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGGAGGTCCGTGGACTCAGT	0.408																																					p.T420R		Atlas-SNP	.											.	DLC1	411	.	0			c.C1259G						PASS	.						152.0	146.0	148.0					8																	13251117		2203	4300	6503	SO:0001583	missense	10395	exon4			AGGTCCGTGGACT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1259C>G	chr8.hg19:g.13251117G>C	ENSP00000276297:p.Thr420Arg	84.0	0.0	.		91.0	31.0	.	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	hg19	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291766	0.23564	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.14022	3.59;2.54;2.58	4.78	-2.55	0.06288	.	1.511200	0.04057	N	0.305696	T	0.11836	0.0288	L	0.29908	0.895	0.09310	N	1	P;P;P	0.37781	0.603;0.485;0.608	B;B;B	0.43360	0.417;0.299;0.144	T	0.20672	-1.0268	10	0.41790	T	0.15	.	2.5185	0.04674	0.418:0.1155:0.3487:0.1178	.	420;420;420	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	R	420	ENSP00000276297:T420R;ENSP00000321034:T420R;ENSP00000425878:T420R	ENSP00000276297:T420R	T	-	2	0	DLC1	13295488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.428000	0.21395	-0.405000	0.07599	-0.133000	0.14855	ACG	.	.	.	none		0.408	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
CNTRL	11064	hgsc.bcm.edu	37	9	123898196	123898196	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr9:123898196A>G	ENST00000373855.1	+	15	2398	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	CNTRL_ENST00000238341.5_Missense_Mutation_p.N713S|CNTRL_ENST00000373850.1_Missense_Mutation_p.N161S|CNTRL_ENST00000373847.1_Missense_Mutation_p.N161S			Q7Z7A1	CNTRL_HUMAN	centriolin	713					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCTCGGCTAAACCTAAGGGAT	0.493																																					p.N713S		Atlas-SNP	.											.	CNTRL	161	.	0			c.A2138G						PASS	.						71.0	61.0	64.0					9																	123898196		2203	4300	6503	SO:0001583	missense	11064	exon13			GGCTAAACCTAAG	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2138A>G	chr9.hg19:g.123898196A>G	ENSP00000362962:p.Asn713Ser	129.0	0.0	.		147.0	58.0	.	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	hg19	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	2.901	-0.227527	0.06022	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.78	0.0413	0.14213	.	.	.	.	.	T	0.21186	0.0510	N	0.08118	0	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.13407	0.0;0.009;0.0	T	0.23619	-1.0183	9	0.24483	T	0.36	.	9.828	0.40923	0.4762:0.0:0.5238:0.0	.	713;713;713	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	S	713;713;713;195;161;161	ENSP00000362962:N713S;ENSP00000238341:N713S;ENSP00000362956:N161S;ENSP00000362953:N161S	ENSP00000238341:N713S	N	+	2	0	CNTRL	122938017	0.122000	0.22280	0.002000	0.10522	0.009000	0.06853	0.478000	0.22212	-0.052000	0.13311	-0.250000	0.11733	AAC	.	.	.	none		0.493	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
GPSM1	26086	hgsc.bcm.edu	37	9	139235387	139235387	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr9:139235387C>A	ENST00000440944.1	+	9	1364	c.1144C>A	c.(1144-1146)Ctc>Atc	p.L382I	GPSM1_ENST00000392945.3_Missense_Mutation_p.L382I	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	382	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCAGCTGGTGCTCGGCCGCCT	0.711																																					p.L382I		Atlas-SNP	.											.	GPSM1	50	.	0			c.C1144A						PASS	.						10.0	12.0	11.0					9																	139235387		2122	4195	6317	SO:0001583	missense	26086	exon9			CTGGTGCTCGGCC	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1144C>A	chr9.hg19:g.139235387C>A	ENSP00000392828:p.Leu382Ile	126.0	0.0	.		83.0	30.0	.	NM_015597	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	hg19	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074785	0.55646	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.79554	-1.28;-1.28;-1.28	3.91	3.91	0.45181	Tetratricopeptide-like helical (1);	0.098698	0.42420	D	0.000720	D	0.89114	0.6623	M	0.77103	2.36	0.80722	D	1	P;P	0.47545	0.897;0.797	D;P	0.74674	0.984;0.88	D	0.89811	0.3982	10	0.51188	T	0.08	-11.6845	15.0757	0.72074	0.0:1.0:0.0:0.0	.	382;382	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	I	382;382;359	ENSP00000376674:L382I;ENSP00000392828:L382I;ENSP00000346797:L359I	ENSP00000346797:L359I	L	+	1	0	GPSM1	138355208	0.995000	0.38212	0.895000	0.35142	0.190000	0.23558	3.345000	0.52182	2.028000	0.59812	0.462000	0.41574	CTC	.	.	.	none		0.711	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597	
ITIH2	3698	hgsc.bcm.edu	37	10	7773959	7773959	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr10:7773959G>T	ENST00000358415.4	+	13	1813	c.1647G>T	c.(1645-1647)tcG>tcT	p.S549S	ITIH2_ENST00000379587.4_Splice_Site_p.S538S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	549					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGCGACTTCGGTACTTCCAC	0.443																																					p.S549S		Atlas-SNP	.											.	ITIH2	144	.	0			c.G1647T						PASS	.						110.0	103.0	106.0					10																	7773959		2203	4300	6503	SO:0001630	splice_region_variant	3698	exon13			GACTTCGGTACTT	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1647+1G>T	chr10.hg19:g.7773959G>T		88.0	0.0	.		83.0	28.0	.	NM_002216	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	hg19	CCDS31141.1																																																																																			.	.	.	none		0.443	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	Silent
TNKS2	80351	hgsc.bcm.edu	37	10	93593660	93593660	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr10:93593660T>A	ENST00000371627.4	+	12	1705	c.1326T>A	c.(1324-1326)taT>taA	p.Y442*		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	442					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GAGCTGCATATTGTGGTCATC	0.398																																					p.Y442X		Atlas-SNP	.											.	TNKS2	103	.	0			c.T1326A						PASS	.						143.0	128.0	133.0					10																	93593660		2203	4300	6503	SO:0001587	stop_gained	80351	exon12			TGCATATTGTGGT	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1326T>A	chr10.hg19:g.93593660T>A	ENSP00000360689:p.Tyr442*	72.0	0.0	.		111.0	43.0	.	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Nonsense_Mutation	SNP	ENST00000371627.4	hg19	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	T	40	7.973135	0.98588	.	.	ENSG00000107854	ENST00000371627	.	.	.	5.83	-0.787	0.10943	.	0.091772	0.47093	D	0.000248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2073	0.54358	0.0:0.6102:0.0:0.3898	.	.	.	.	X	442	.	ENSP00000360689:Y442X	Y	+	3	2	TNKS2	93583640	0.632000	0.27172	0.995000	0.50966	0.860000	0.49131	-0.277000	0.08502	-0.088000	0.12506	0.533000	0.62120	TAT	.	.	.	none		0.398	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249121	71249121	+	Missense_Mutation	SNP	C	C	G	rs200585722		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:71249121C>G	ENST00000398534.3	+	1	51	c.20C>G	c.(19-21)tCt>tGt	p.S7C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	7						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGCTGCTCTGGAGGCTGT	0.657																																					p.S7C		Atlas-SNP	.											.	KRTAP5-8	28	.	0			c.C20G						PASS	.						47.0	66.0	60.0					11																	71249121		2189	4282	6471	SO:0001583	missense	57830	exon1			GCTGCTCTGGAGG	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.20C>G	chr11.hg19:g.71249121C>G	ENSP00000420723:p.Ser7Cys	110.0	0.0	.		92.0	16.0	.	NM_021046	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	hg19	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	c	3.358	-0.131059	0.06753	.	.	ENSG00000241233	ENST00000398534	T	0.01527	4.8	1.57	1.57	0.23409	.	.	.	.	.	T	0.03564	0.0102	M	0.74389	2.26	0.09310	N	1	P	0.39094	0.659	B	0.43225	0.412	T	0.34204	-0.9838	9	0.62326	D	0.03	.	3.9595	0.09404	0.0:0.775:0.0:0.225	.	7	O75690	KRA58_HUMAN	C	7	ENSP00000420723:S7C	ENSP00000420723:S7C	S	+	2	0	KRTAP5-8	70926769	0.030000	0.19436	0.804000	0.32291	0.223000	0.24884	-0.589000	0.05767	1.182000	0.42928	0.514000	0.50259	TCT	.	.	.	weak		0.657	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046	
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249125	71249125	+	Silent	SNP	A	A	G	rs537752041|rs113379698|rs55848980	byFrequency	TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:71249125A>G	ENST00000398534.3	+	1	55	c.24A>G	c.(22-24)ggA>ggG	p.G8G		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	8						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGCTCTGGAGGCTGTGGCT	0.652																																					p.G8G		Atlas-SNP	.											KRTAP5-8,rectum,carcinoma,0,1	KRTAP5-8	28	.	0			c.A24G						PASS	.						47.0	66.0	60.0					11																	71249125		2189	4280	6469	SO:0001819	synonymous_variant	57830	exon1			CTCTGGAGGCTGT	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.24A>G	chr11.hg19:g.71249125A>G		104.0	1.0	.		91.0	18.0	.	NM_021046	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	hg19	CCDS41683.1																																																																																			.	A|0.500;G|0.500	0.500	weak		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046	
ATM	472	hgsc.bcm.edu	37	11	108192079	108192079	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:108192079G>T	ENST00000452508.2	+	46	6693	c.6504G>T	c.(6502-6504)tcG>tcT	p.S2168S	ATM_ENST00000278616.4_Silent_p.S2168S|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2168	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGTGTATTCGCTCTATCCCA	0.408			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.S2168S		Atlas-SNP	.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	ATM	1657	.	0			c.G6504T						PASS	.						169.0	157.0	161.0					11																	108192079		2201	4298	6499	SO:0001819	synonymous_variant	472	exon45	Familial Cancer Database	AT, Louis-Bar syndrome	GTATTCGCTCTAT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6504G>T	chr11.hg19:g.108192079G>T		86.0	0.0	.		86.0	4.0	.	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	hg19	CCDS31669.1																																																																																			.	.	.	none		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
PHLDB1	23187	hgsc.bcm.edu	37	11	118498946	118498946	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:118498946C>T	ENST00000361417.2	+	7	1818	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	PHLDB1_ENST00000356063.5_Silent_p.L469L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	469										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGCGAGCTCTCTCCCCGCTGC	0.677																																					p.L469L		Atlas-SNP	.											.	PHLDB1	103	.	0			c.C1407T						PASS	.						55.0	68.0	64.0					11																	118498946		2200	4295	6495	SO:0001819	synonymous_variant	23187	exon6			AGCTCTCTCCCCG		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1407C>T	chr11.hg19:g.118498946C>T		151.0	0.0	.		127.0	12.0	.	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	hg19	CCDS8401.1																																																																																			.	.	.	none		0.677	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
CDON	50937	hgsc.bcm.edu	37	11	125891166	125891166	+	Missense_Mutation	SNP	C	C	T	rs374113801		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:125891166C>T	ENST00000392693.3	-	3	453	c.326G>A	c.(325-327)gGc>gAc	p.G109D	CDON_ENST00000263577.7_Missense_Mutation_p.G109D	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	109	Ig-like C2-type 1.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTCGCAGGGCCACTCACAAT	0.438																																					p.G109D		Atlas-SNP	.											.	CDON	137	.	0			c.G326A						PASS	.						50.0	50.0	50.0					11																	125891166		2201	4299	6500	SO:0001583	missense	50937	exon3			GCAGGGCCACTCA	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.326G>A	chr11.hg19:g.125891166C>T	ENSP00000376458:p.Gly109Asp	45.0	0.0	.		55.0	22.0	.	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	hg19	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.459|7.459	0.644339|0.644339	0.14451|0.14451	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818|ENST00000534661	T;T;T;T;T|.	0.76060|.	2.79;2.79;2.79;2.79;-0.99|.	5.78|5.78	2.38|2.38	0.29361|0.29361	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.028080|.	0.07726|.	N|.	0.944420|.	T|.	0.19525|.	0.0469|.	N|N	0.10645|0.10645	0.015|0.015	0.09310|0.09310	N|N	1|1	B;P;B|.	0.34615|.	0.001;0.459;0.404|.	B;B;B|.	0.43575|.	0.003;0.424;0.299|.	T|.	0.24225|.	-1.0166|.	10|.	0.18710|.	T|.	0.47|.	-3.2722|-3.2722	10.1949|10.1949	0.43049|0.43049	0.0:0.7427:0.1165:0.1408|0.0:0.7427:0.1165:0.1408	.|.	109;109;109|.	E9PRD8;Q4KMG0;Q4KMG0-2|.	.;CDON_HUMAN;.|.	D|X	109|84	ENSP00000376458:G109D;ENSP00000263577:G109D;ENSP00000434212:G109D;ENSP00000436940:G109D;ENSP00000437176:G109D|.	ENSP00000263577:G109D|.	G|W	-|-	2|3	0|0	CDON|CDON	125396376|125396376	0.000000|0.000000	0.05858|0.05858	0.350000|0.350000	0.25708|0.25708	0.421000|0.421000	0.31385|0.31385	0.293000|0.293000	0.19029|0.19029	0.760000|0.760000	0.33108|0.33108	0.563000|0.563000	0.77884|0.77884	GGC|TGG	.	.	.	alt		0.438	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
CLEC1A	51267	hgsc.bcm.edu	37	12	10223995	10223995	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:10223995C>G	ENST00000315330.4	-	6	842	c.780G>C	c.(778-780)agG>agC	p.R260S	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R227S|CLEC1A_ENST00000420265.2_Missense_Mutation_p.R168S	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	260					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CCATTCCTGCCCTTCTCTCAC	0.507																																					p.R260S		Atlas-SNP	.											.	CLEC1A	48	.	0			c.G780C						PASS	.						195.0	172.0	179.0					12																	10223995		2203	4300	6503	SO:0001583	missense	51267	exon6			TCCTGCCCTTCTC	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.780G>C	chr12.hg19:g.10223995C>G	ENSP00000326407:p.Arg260Ser	60.0	0.0	.		138.0	65.0	.	NM_016511	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	hg19	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	7.988	0.752743	0.15778	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.16897	2.31;2.31;2.31	5.33	-3.61	0.04556	C-type lectin fold (1);C-type lectin-like (1);	2.595010	0.01388	N	0.013141	T	0.13372	0.0324	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17465	0.022;0.017;0.005	B;B;B	0.14023	0.005;0.01;0.004	T	0.34625	-0.9821	10	0.54805	T	0.06	.	7.4304	0.27124	0.1095:0.449:0.0:0.4415	.	168;227;260	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	S	260;227;168	ENSP00000326407:R260S;ENSP00000415048:R227S;ENSP00000417010:R168S	ENSP00000326407:R260S	R	-	3	2	CLEC1A	10115262	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-2.449000	0.01008	-0.797000	0.04450	-1.119000	0.02030	AGG	.	.	.	none		0.507	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
C2CD5	9847	hgsc.bcm.edu	37	12	22622701	22622701	+	Silent	SNP	T	T	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:22622701T>C	ENST00000333957.4	-	22	2730	c.2475A>G	c.(2473-2475)caA>caG	p.Q825Q	C2CD5_ENST00000446597.1_Silent_p.Q825Q|C2CD5_ENST00000396028.2_Silent_p.Q816Q|C2CD5_ENST00000542676.1_Silent_p.Q825Q|C2CD5_ENST00000544930.1_Silent_p.Q640Q|C2CD5_ENST00000545552.1_Silent_p.Q838Q|C2CD5_ENST00000536386.1_Silent_p.Q827Q	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	825					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CCAGTGGAAATTGTAAAAGTT	0.328																																					p.Q825Q		Atlas-SNP	.											.	.	.	.	0			c.A2475G						PASS	.						94.0	97.0	96.0					12																	22622701		2203	4300	6503	SO:0001819	synonymous_variant	9847	exon22			TGGAAATTGTAAA	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2475A>G	chr12.hg19:g.22622701T>C		67.0	0.0	.		163.0	36.0	.	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	hg19	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	T	7.147	0.583074	0.13749	.	.	ENSG00000111731	ENST00000539615	.	.	.	5.11	1.78	0.24846	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42068	-0.9473	4	.	.	.	-8.9389	5.1412	0.14959	0.0:0.5095:0.0:0.4905	.	.	.	.	S	109	.	.	N	-	2	0	KIAA0528	22513968	0.997000	0.39634	1.000000	0.80357	0.880000	0.50808	0.254000	0.18314	0.677000	0.31305	-0.777000	0.03380	AAT	.	.	.	none		0.328	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
DDX11	1663	hgsc.bcm.edu	37	12	31242339	31242339	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:31242339C>T	ENST00000407793.2	+	8	1046	c.795C>T	c.(793-795)aaC>aaT	p.N265N	DDX11_ENST00000545668.1_Silent_p.N265N|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.N265N|DDX11_ENST00000542838.1_Silent_p.N265N|DDX11_ENST00000228264.6_Silent_p.N239N	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	265	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGCTGCAGAACCTTTGTGTAA	0.517										Multiple Myeloma(12;0.14)																											p.N265N		Atlas-SNP	.											.	DDX11	188	.	0			c.C795T						PASS	.						79.0	77.0	78.0					12																	31242339		2203	4300	6503	SO:0001819	synonymous_variant	1663	exon8			GCAGAACCTTTGT	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.795C>T	chr12.hg19:g.31242339C>T		440.0	0.0	.		384.0	21.0	.	NM_030653	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	hg19	CCDS44856.1																																																																																			.	.	.	none		0.517	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
DDX11	1663	hgsc.bcm.edu	37	12	31256511	31256511	+	Splice_Site	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:31256511G>C	ENST00000407793.2	+	26	2783	c.2532G>C	c.(2530-2532)agG>agC	p.R844S	DDX11_ENST00000545668.1_Splice_Site_p.R844S|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Splice_Site_p.G796A|DDX11_ENST00000542838.1_Splice_Site_p.G846A|DDX11_ENST00000228264.6_Splice_Site_p.G820A	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	844					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCCTATGCAGGCAGGGCCATC	0.627										Multiple Myeloma(12;0.14)																											p.G846A		Atlas-SNP	.											.	DDX11	188	.	0			c.G2537C						PASS	.						17.0	24.0	22.0					12																	31256511		2190	4291	6481	SO:0001630	splice_region_variant	1663	exon26			ATGCAGGCAGGGC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2532-1G>C	chr12.hg19:g.31256511G>C		127.0	0.0	.		149.0	78.0	.	NM_030653	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	hg19	CCDS44856.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	2.472|2.472|2.472	-0.321689|-0.321689|-0.321689	0.05386|0.05386|0.05386	.|.|.	.|.|.	ENSG00000013573|ENSG00000013573|ENSG00000013573	ENST00000404673;ENST00000539702|ENST00000542838;ENST00000228264;ENST00000350437|ENST00000407793;ENST00000545668	.|D;D;D|T;T	.|0.97831|0.73152	.|-3.51;-3.51;-4.56|-0.72;-0.72	3.14|3.14|3.14	3.14|3.14|3.14	0.36123|0.36123|0.36123	.|.|Helicase, ATP-dependent, c2 type (1);	.|0.593501|.	.|0.17209|.	.|N|.	.|0.182822|.	D|D|D	0.86957|0.86957|0.86957	0.6058|0.6058|0.6058	H|H|H	0.98446|0.98446|0.98446	4.235|4.235|4.235	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|D	.|0.76494|0.63046	.|0.999;0.999;0.999|0.992	.|D;D;D|P	.|0.70716|0.56434	.|0.957;0.968;0.97|0.798	D|D|D	0.90935|0.90935|0.90935	0.4793|0.4793|0.4793	5|9|8	.|.|.	.|.|.	.|.|.	.|.|.	11.816|11.816|11.816	0.52211|0.52211|0.52211	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|820;796;846|844	.|Q96FC9-3;Q96FC9-4;Q96FC9-2|Q96FC9	.|.;.;.|DDX11_HUMAN	P|A|S	545;112|846;820;796|844	.|ENSP00000443426:G846A;ENSP00000228264:G820A;ENSP00000309965:G796A|ENSP00000384703:R844S;ENSP00000440402:R844S	.|.|.	A|G|R	+|+|+	1|2|3	0|0|2	DDX11|DDX11|DDX11	31147778|31147778|31147778	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.640000|0.640000|0.640000	0.38277|0.38277|0.38277	8.292000|8.292000|8.292000	0.89930|0.89930|0.89930	1.582000|1.582000|1.582000	0.49881|0.49881|0.49881	0.430000|0.430000|0.430000	0.28490|0.28490|0.28490	GCA|GGC|AGG	.	.	.	none		0.627	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	Missense_Mutation
PAWR	5074	hgsc.bcm.edu	37	12	79988144	79988144	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:79988144C>G	ENST00000328827.4	-	6	1273	c.901G>C	c.(901-903)Gga>Cga	p.G301R		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	301	Leucine-zipper.				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGAGTTTTCCAATCATTTCC	0.303																																					p.G301R		Atlas-SNP	.											.	PAWR	14	.	0			c.G901C						PASS	.						119.0	113.0	115.0					12																	79988144		2200	4296	6496	SO:0001583	missense	5074	exon6			GTTTTCCAATCAT	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.901G>C	chr12.hg19:g.79988144C>G	ENSP00000328088:p.Gly301Arg	77.0	0.0	.		126.0	70.0	.	NM_002583	O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	hg19	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013680	0.54468	.	.	ENSG00000177425	ENST00000328827;ENST00000550603	T;T	0.81415	2.46;-1.49	5.8	3.99	0.46301	.	0.639303	0.16466	N	0.213178	T	0.72614	0.3482	L	0.29908	0.895	0.44728	D	0.997724	P	0.41929	0.765	P	0.45406	0.479	T	0.65311	-0.6199	9	.	.	.	-5.6848	7.9645	0.30091	0.0:0.7279:0.1308:0.1413	.	301	Q96IZ0	PAWR_HUMAN	R	301;32	ENSP00000328088:G301R;ENSP00000447507:G32R	.	G	-	1	0	PAWR	78512275	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	2.388000	0.44398	0.802000	0.34089	0.563000	0.77884	GGA	.	.	.	none		0.303	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583	
MYO1H	283446	hgsc.bcm.edu	37	12	109843836	109843836	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:109843836C>T	ENST00000431443.2	+	7	911	c.911C>T	c.(910-912)gCc>gTc	p.A304V	MYO1H_ENST00000310903.5_Missense_Mutation_p.A304V|MYO1H_ENST00000542883.1_3'UTR	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	304	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAGTGGATAGCCAAGGTGATG	0.522																																					p.A304V		Atlas-SNP	.											.	MYO1H	98	.	0			c.C911T						PASS	.						65.0	61.0	62.0					12																	109843836		1955	4143	6098	SO:0001583	missense	283446	exon7			GGATAGCCAAGGT		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.911C>T	chr12.hg19:g.109843836C>T	ENSP00000444076:p.Ala304Val	72.0	0.0	.		85.0	42.0	.	NM_001101421	F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.232509	0.95207	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.90955	-2.76;-2.76	4.88	4.88	0.63580	.	.	.	.	.	D	0.92928	0.7750	M	0.91249	3.19	0.41761	D	0.989713	P	0.39903	0.694	B	0.39094	0.29	D	0.94791	0.7962	9	0.87932	D	0	.	17.4368	0.87554	0.0:1.0:0.0:0.0	.	304	F5H3C6	.	V	304	ENSP00000439182:A304V;ENSP00000444076:A304V	ENSP00000439182:A304V	A	+	2	0	MYO1H	108328219	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.046000	0.76592	2.439000	0.82584	0.650000	0.86243	GCC	.	.	.	none		0.522	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
RIMBP2	23504	hgsc.bcm.edu	37	12	130921587	130921587	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:130921587C>T	ENST00000261655.4	-	10	2018	c.1855G>A	c.(1855-1857)Gcc>Acc	p.A619T	RIMBP2_ENST00000535703.1_Missense_Mutation_p.A527T|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A527T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	619	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A619S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCATCCTGGCGTGGGGACCC	0.667																																					p.A619T		Atlas-SNP	.											RIMBP2,NS,carcinoma,0,1	RIMBP2	220	.	1	Substitution - Missense(1)	lung(1)	c.G1855A						PASS	.						66.0	57.0	60.0					12																	130921587		2203	4300	6503	SO:0001583	missense	23504	exon10			TCCTGGCGTGGGG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1855G>A	chr12.hg19:g.130921587C>T	ENSP00000261655:p.Ala619Thr	130.0	0.0	.		130.0	33.0	.	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	hg19	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	1.099	-0.661600	0.03454	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.19669	2.13;2.98;2.98	4.23	-2.05	0.07321	.	2.528880	0.01158	N	0.006570	T	0.12220	0.0297	N	0.22421	0.69	0.09310	N	1	B;B;B	0.28128	0.103;0.201;0.007	B;B;B	0.24269	0.017;0.052;0.001	T	0.13388	-1.0511	10	0.14252	T	0.57	.	4.7566	0.13086	0.2207:0.3515:0.0:0.4278	.	527;527;619	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	T	619;527;527;527	ENSP00000261655:A619T;ENSP00000440347:A527T;ENSP00000439159:A527T	ENSP00000261655:A619T	A	-	1	0	RIMBP2	129487540	0.000000	0.05858	0.009000	0.14445	0.258000	0.26162	-0.349000	0.07731	-0.046000	0.13446	0.561000	0.74099	GCC	.	.	.	none		0.667	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
NBEA	26960	hgsc.bcm.edu	37	13	36229093	36229093	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr13:36229093A>G	ENST00000400445.3	+	53	8608	c.8074A>G	c.(8074-8076)Att>Gtt	p.I2692V	NBEA_ENST00000310336.4_Missense_Mutation_p.I2692V|NBEA_ENST00000379939.2_Missense_Mutation_p.I2689V|NBEA_ENST00000537702.1_Missense_Mutation_p.I485V|NBEA_ENST00000540320.1_Missense_Mutation_p.I2692V|NBEA_ENST00000379922.3_Missense_Mutation_p.I270V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2692					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)		TAATCGCTATATTCTTATCTG	0.363																																					p.I2692V		Atlas-SNP	.											NBEA,NS,carcinoma,0,1	NBEA	340	.	0			c.A8074G						PASS	.						90.0	87.0	88.0					13																	36229093		1855	4090	5945	SO:0001583	missense	26960	exon53			CGCTATATTCTTA	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.8074A>G	chr13.hg19:g.36229093A>G	ENSP00000383295:p.Ile2692Val	84.0	1.0	.		114.0	25.0	.	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304230	0.40795	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.65	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048458	0.85682	N	0.000000	T	0.26521	0.0648	L	0.37800	1.135	0.58432	D	0.999999	B;P;B	0.39748	0.034;0.686;0.112	B;B;B	0.42738	0.035;0.396;0.168	T	0.02437	-1.1159	10	0.24483	T	0.36	.	9.9577	0.41678	0.9158:0.0:0.0842:0.0	.	2692;270;2689	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	V	2692;2692;2689;2692;1319;270;485;270	ENSP00000440951:I2692V;ENSP00000383295:I2692V;ENSP00000369271:I2689V;ENSP00000308534:I2692V;ENSP00000440233:I485V;ENSP00000369254:I270V	ENSP00000308534:I2692V	I	+	1	0	NBEA	35127093	1.000000	0.71417	0.995000	0.50966	0.781000	0.44180	6.181000	0.71988	0.961000	0.38030	0.533000	0.62120	ATT	.	.	.	none		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
LMO7	4008	hgsc.bcm.edu	37	13	76381810	76381810	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr13:76381810T>G	ENST00000321797.8	+	8	1413	c.692T>G	c.(691-693)tTt>tGt	p.F231C	LMO7_ENST00000465261.2_Missense_Mutation_p.F231C|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.F516C|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.F516C|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	516					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GATGATTTCTTTGTCAGAAAG	0.443																																					p.F231C		Atlas-SNP	.											.	LMO7	334	.	0			c.T692G						PASS	.						86.0	81.0	83.0					13																	76381810		1568	3582	5150	SO:0001583	missense	4008	exon7			ATTTCTTTGTCAG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.692T>G	chr13.hg19:g.76381810T>G	ENSP00000317802:p.Phe231Cys	77.0	0.0	.		142.0	38.0	.	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	hg19		.	.	.	.	.	.	.	.	.	.	T	22.4	4.281530	0.80692	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526528	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.83	5.83	0.93111	.	0.053706	0.85682	D	0.000000	T	0.73590	0.3606	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.936	T	0.76599	-0.2900	10	0.87932	D	0	-19.7539	16.1968	0.82036	0.0:0.0:0.0:1.0	.	516;231	Q8WWI1;E9PLH4	LMO7_HUMAN;.	C	516;516;231;231;137	ENSP00000349571:F516C;ENSP00000366757:F516C;ENSP00000317802:F231C;ENSP00000433352:F231C	ENSP00000317802:F231C	F	+	2	0	LMO7	75279811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.225000	0.72522	0.533000	0.62120	TTT	.	.	.	none		0.443	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
RNF219	79596	hgsc.bcm.edu	37	13	79219122	79219122	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr13:79219122G>T	ENST00000282003.6	-	2	141	c.83C>A	c.(82-84)cCt>cAt	p.P28H		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	28							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCATATGACAGGCTGACGTAC	0.378																																					p.P28H		Atlas-SNP	.											.	RNF219	94	.	0			c.C83A						PASS	.						133.0	117.0	123.0					13																	79219122		2203	4300	6503	SO:0001583	missense	79596	exon2			ATGACAGGCTGAC	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.83C>A	chr13.hg19:g.79219122G>T	ENSP00000282003:p.Pro28His	80.0	0.0	.		111.0	7.0	.	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	hg19	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719656	0.89205	.	.	ENSG00000152193	ENST00000282003	T	0.30714	1.52	5.66	5.66	0.87406	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69569	-0.5110	10	0.87932	D	0	-11.4156	19.7324	0.96188	0.0:0.0:1.0:0.0	.	28	Q5W0B1	RN219_HUMAN	H	28	ENSP00000282003:P28H	ENSP00000282003:P28H	P	-	2	0	RNF219	78117123	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.230000	0.95299	2.663000	0.90544	0.655000	0.94253	CCT	.	.	.	none		0.378	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
ESR2	2100	hgsc.bcm.edu	37	14	64699969	64699969	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr14:64699969C>A	ENST00000341099.4	-	9	1896	c.1479G>T	c.(1477-1479)gaG>gaT	p.E493D	ESR2_ENST00000553796.1_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.E402D|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	493	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CATTCAGCATCTCCAGCAGCA	0.542																																					p.E493D		Atlas-SNP	.											.	ESR2	82	.	0			c.G1479T						PASS	.						183.0	151.0	162.0					14																	64699969		2203	4300	6503	SO:0001583	missense	2100	exon9			CAGCATCTCCAGC	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1479G>T	chr14.hg19:g.64699969C>A	ENSP00000343925:p.Glu493Asp	62.0	0.0	.		68.0	19.0	.	NM_001437	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	hg19	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218986	0.79464	.	.	ENSG00000140009	ENST00000341099;ENST00000267525	D;T	0.92149	-2.98;0.13	5.68	5.68	0.88126	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.87758	2.905	0.32928	D	0.51671	D;D	0.89917	1.0;0.978	D;D	0.83275	0.996;0.913	D	0.98321	1.0528	10	0.87932	D	0	.	14.0109	0.64495	0.0:0.928:0.0:0.072	.	402;493	Q92731-7;Q92731	.;ESR2_HUMAN	D	493;402	ENSP00000343925:E493D;ENSP00000267525:E402D	ENSP00000267525:E402D	E	-	3	2	ESR2	63769722	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.875000	0.48491	2.683000	0.91414	0.561000	0.74099	GAG	.	.	.	none		0.542	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1		
MGA	23269	hgsc.bcm.edu	37	15	41988958	41988958	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr15:41988958G>C	ENST00000570161.1	+	2	1750	c.1750G>C	c.(1750-1752)Ggc>Cgc	p.G584R	MGA_ENST00000389936.4_Missense_Mutation_p.G584R|MGA_ENST00000545763.1_Missense_Mutation_p.G584R|MGA_ENST00000566586.1_Missense_Mutation_p.G584R|MGA_ENST00000219905.7_Missense_Mutation_p.G584R			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				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)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAGGACTTGGGCAGAAAGAG	0.428																																					p.G584R		Atlas-SNP	.											.	MGA	264	.	0			c.G1750C						PASS	.						40.0	36.0	37.0					15																	41988958		1893	4128	6021	SO:0001583	missense	23269	exon3			GACTTGGGCAGAA	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1750G>C	chr15.hg19:g.41988958G>C	ENSP00000457035:p.Gly584Arg	173.0	0.0	.		157.0	52.0	.	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414212	0.62511	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.87809	-2.26;-2.3;-2.18	5.23	4.3	0.51218	.	2.318350	0.01436	N	0.014901	D	0.90854	0.7127	L	0.34521	1.04	0.29365	N	0.864383	D;D	0.76494	0.999;0.964	D;P	0.71656	0.974;0.691	T	0.77133	-0.2700	10	0.87932	D	0	.	10.1653	0.42877	0.0744:0.1383:0.7873:0.0	.	584;584	F5H7K2;E7ENI0	.;.	R	584	ENSP00000219905:G584R;ENSP00000374586:G584R;ENSP00000442467:G584R	ENSP00000219905:G584R	G	+	1	0	MGA	39776250	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.246000	0.51414	1.178000	0.42870	0.462000	0.41574	GGC	.	.	.	none		0.428	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
FLYWCH1	84256	hgsc.bcm.edu	37	16	2980631	2980631	+	Silent	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr16:2980631G>A	ENST00000253928.9	+	4	951	c.546G>A	c.(544-546)gaG>gaA	p.E182E	FLYWCH1_ENST00000399667.2_Silent_p.E182E|FLYWCH1_ENST00000416288.2_Silent_p.E181E			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	182						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						AAGGCCTGGAGGCCCGGCGCC	0.731																																					p.E181E		Atlas-SNP	.											.	FLYWCH1	27	.	0			c.G543A						PASS	.						4.0	4.0	4.0					16																	2980631		1763	3796	5559	SO:0001819	synonymous_variant	84256	exon4			CCTGGAGGCCCGG	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.546G>A	chr16.hg19:g.2980631G>A		86.0	0.0	.		90.0	29.0	.	NM_020912	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	hg19																																																																																				.	.	.	none		0.731	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296	
HYDIN	54768	hgsc.bcm.edu	37	16	71163576	71163576	+	Silent	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr16:71163576C>G	ENST00000393567.2	-	9	1344	c.1194G>C	c.(1192-1194)ctG>ctC	p.L398L	HYDIN_ENST00000393550.2_Silent_p.L398L|HYDIN_ENST00000541601.1_Silent_p.L415L|HYDIN_ENST00000448691.1_Silent_p.L398L|HYDIN_ENST00000288168.10_Silent_p.L415L|HYDIN_ENST00000321489.5_Silent_p.L398L|HYDIN_ENST00000448089.2_Silent_p.L398L|HYDIN_ENST00000538248.1_Silent_p.L425L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	398					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TATTGAAGAACAGCTTGCTGT	0.458																																					p.L425L		Atlas-SNP	.											.	HYDIN	788	.	0			c.G1275C						PASS	.						59.0	58.0	58.0					16																	71163576		2198	4300	6498	SO:0001819	synonymous_variant	54768	exon9			GAAGAACAGCTTG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1194G>C	chr16.hg19:g.71163576C>G		65.0	0.0	.		93.0	45.0	.	NM_001198542	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	hg19	CCDS59269.1																																																																																			.	.	.	none		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
GJD3	125111	hgsc.bcm.edu	37	17	38519536	38519536	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:38519536C>T	ENST00000578689.1	-	1	531	c.532G>A	c.(532-534)Gac>Aac	p.D178N	CTD-2267D19.3_ENST00000578774.1_Silent_p.V116V|GJD3_ENST00000337376.4_Missense_Mutation_p.D178N	NM_152219.3	NP_689343.3	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa	178					cell communication (GO:0007154)|gap junction assembly (GO:0016264)	cell surface (GO:0009986)|connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			ACGAAGCAGTCGACCGTGTGC	0.706																																					p.D178N		Atlas-SNP	.											.	GJD3	2	.	0			c.G532A						PASS	.						2.0	3.0	2.0					17																	38519536		1475	3103	4578	SO:0001583	missense	125111	exon1			AGCAGTCGACCGT	AF514298	CCDS58547.1	17q21.1	2012-04-19	2007-11-06	2007-11-06	ENSG00000183153	ENSG00000183153		"""Ion channels / Gap junction proteins (connexins)"""	19147	protein-coding gene	gene with protein product	"""connexin 31.9"""	607425	"""gap junction protein, chi 1, 31.9kDa"""	GJC1		12176752	Standard	NM_152219		Approved	CX31.9, GJA11, Cx30.2	uc010cwz.3	Q8N144		ENST00000578689.1:c.532G>A	chr17.hg19:g.38519536C>T	ENSP00000463752:p.Asp178Asn	30.0	0.0	.		36.0	20.0	.	NM_152219	Q6ZUW6	Missense_Mutation	SNP	ENST00000578689.1	hg19	CCDS58547.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595832	0.86953	.	.	ENSG00000183153	ENST00000337376	D	0.96265	-3.96	3.43	3.43	0.39272	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.97117	0.9058	L	0.59912	1.85	0.48185	D	0.9996	D	0.89917	1.0	D	0.80764	0.994	D	0.96558	0.9413	10	0.39692	T	0.17	.	14.649	0.68784	0.0:1.0:0.0:0.0	.	178	Q8N144	CXD3_HUMAN	N	178	ENSP00000336832:D178N	ENSP00000336832:D178N	D	-	1	0	GJD3	35773062	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	3.330000	0.52068	1.760000	0.52011	0.313000	0.20887	GAC	.	.	.	none		0.706	GJD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447449.1	NM_152219	
KRT13	3860	hgsc.bcm.edu	37	17	39657556	39657556	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:39657556G>T	ENST00000246635.3	-	8	1375	c.1329C>A	c.(1327-1329)acC>acA	p.T443T	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_3'UTR	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	443	Tail.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CATTAGAGGTGGTGGTAACAG	0.572																																					p.T443T		Atlas-SNP	.											.	KRT13	72	.	0			c.C1329A						PASS	.						66.0	50.0	56.0					17																	39657556		2199	4292	6491	SO:0001819	synonymous_variant	3860	exon8			AGAGGTGGTGGTA		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1329C>A	chr17.hg19:g.39657556G>T		149.0	0.0	.		195.0	26.0	.	NM_153490	Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	hg19	CCDS11396.1																																																																																			.	.	.	none		0.572	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
PCYT2	5833	hgsc.bcm.edu	37	17	79865660	79865660	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:79865660G>T	ENST00000538936.2	-	5	589	c.481C>A	c.(481-483)Cac>Aac	p.H161N	PCYT2_ENST00000331285.3_Missense_Mutation_p.H83N|PCYT2_ENST00000538721.2_Missense_Mutation_p.H161N|PCYT2_ENST00000570388.1_Missense_Mutation_p.H83N|PCYT2_ENST00000571105.1_Missense_Mutation_p.H161N|PCYT2_ENST00000570391.1_Missense_Mutation_p.H129N	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	161					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	TGGCTGCTGTGATGGGCTTTG	0.662																																					p.H161N		Atlas-SNP	.											.	PCYT2	23	.	0			c.C481A						PASS	.						65.0	52.0	56.0					17																	79865660		2203	4300	6503	SO:0001583	missense	5833	exon5			TGCTGTGATGGGC	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.481C>A	chr17.hg19:g.79865660G>T	ENSP00000439245:p.His161Asn	56.0	0.0	.		54.0	33.0	.	NM_002861	B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	hg19	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332723	0.81801	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.34	4.34	0.51931	.	0.052098	0.85682	D	0.000000	T	0.71660	0.3366	M	0.78456	2.415	0.80722	D	1	P;B;P;D;D	0.54772	0.791;0.129;0.541;0.968;0.968	P;B;B;P;P	0.51453	0.449;0.029;0.157;0.67;0.67	T	0.73375	-0.4002	9	0.32370	T	0.25	-36.5261	17.0425	0.86493	0.0:0.0:1.0:0.0	.	129;129;161;83;161	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	N	161;161;83	.	ENSP00000331719:H83N	H	-	1	0	PCYT2	77458952	1.000000	0.71417	0.926000	0.36857	0.658000	0.38924	7.146000	0.77373	2.233000	0.73108	0.561000	0.74099	CAC	.	.	.	none		0.662	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861	
FOXK2	3607	hgsc.bcm.edu	37	17	80477826	80477826	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:80477826G>C	ENST00000335255.5	+	1	236	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	21	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ggcggggccgggggcggcggg	0.846																																					p.G21A		Atlas-SNP	.											FOXK2,NS,carcinoma,0,1	FOXK2	46	.	0			c.G62C						PASS	.						1.0	1.0	1.0					17																	80477826		122	223	345	SO:0001583	missense	3607	exon1			GGGCCGGGGGCGG	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.62G>C	chr17.hg19:g.80477826G>C	ENSP00000335677:p.Gly21Ala	3.0	0.0	.		4.0	3.0	.	NM_004514	A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	hg19	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	2.177	-0.388435	0.04932	.	.	ENSG00000141568	ENST00000335255;ENST00000335241	D	0.93076	-3.16	1.8	1.8	0.24995	.	.	.	.	.	D	0.89375	0.6697	N	0.08118	0	0.25222	N	0.98989	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.68621	0.959;0.91;0.959	T	0.80350	-0.1419	9	0.14252	T	0.57	.	6.724	0.23346	0.0:0.0:1.0:0.0	.	21;21;21	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	A	21	ENSP00000335677:G21A	ENSP00000334321:G21A	G	+	2	0	FOXK2	78071115	0.917000	0.31117	0.403000	0.26384	0.773000	0.43773	0.923000	0.28757	0.820000	0.34516	0.486000	0.48141	GGG	.	.	.	none		0.846	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430	
MUM1	84939	hgsc.bcm.edu	37	19	1371012	1371012	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:1371012G>A	ENST00000415183.3	+	11	1950	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	MUM1_ENST00000591806.1_Missense_Mutation_p.A642T|MUM1_ENST00000344663.3_Missense_Mutation_p.A642T|MUM1_ENST00000311401.5_Missense_Mutation_p.A573T			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	641					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGTGGGGGCCAAGGTGCT	0.657																																					p.A642T		Atlas-SNP	.											.	MUM1	54	.	0			c.G1924A						PASS	.						57.0	41.0	46.0					19																	1371012		2185	4281	6466	SO:0001583	missense	84939	exon12			GTGGGGGCCAAGG	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1924G>A	chr19.hg19:g.1371012G>A	ENSP00000394925:p.Ala642Thr	87.0	0.0	.		66.0	20.0	.	NM_032853	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	hg19		.	.	.	.	.	.	.	.	.	.	G	11.35	1.612141	0.28712	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.41400	1.0;1.0;1.0	4.82	-3.93	0.04143	.	1.208560	0.05866	N	0.623862	T	0.18841	0.0452	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.31077	0.022;0.085;0.307;0.048	B;B;B;B	0.23275	0.01;0.01;0.045;0.02	T	0.11397	-1.0589	10	0.17369	T	0.5	.	4.9552	0.14035	0.3899:0.0:0.3792:0.2309	.	642;642;573;641	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	T	642;573;642	ENSP00000345789:A642T;ENSP00000309135:A573T;ENSP00000394925:A642T	ENSP00000309135:A573T	A	+	1	0	MUM1	1322012	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.289000	0.08365	-1.136000	0.02892	-0.379000	0.06801	GCC	.	.	.	none		0.657	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853	
NFIC	4782	hgsc.bcm.edu	37	19	3449135	3449135	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:3449135G>T	ENST00000443272.2	+	7	1133	c.1082G>T	c.(1081-1083)aGc>aTc	p.S361I	NFIC_ENST00000395111.3_Missense_Mutation_p.S352I|NFIC_ENST00000590282.1_Missense_Mutation_p.S361I|NFIC_ENST00000341919.3_Missense_Mutation_p.S361I|NFIC_ENST00000589123.1_Missense_Mutation_p.S352I|NFIC_ENST00000346156.5_Missense_Mutation_p.S328I|NFIC_ENST00000586919.1_Missense_Mutation_p.S328I	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	361					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCCGTGCACAGCGGTAAGCGC	0.672																																					p.S361I		Atlas-SNP	.											.	NFIC	36	.	0			c.G1082T						PASS	.						61.0	45.0	50.0					19																	3449135		2203	4299	6502	SO:0001583	missense	4782	exon7			TGCACAGCGGTAA	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1082G>T	chr19.hg19:g.3449135G>T	ENSP00000396843:p.Ser361Ile	79.0	0.0	.		65.0	20.0	.	NM_001245004	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	hg19	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600339	0.87055	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.52526	0.66;0.66;0.66	3.96	3.96	0.45880	.	0.099564	0.64402	D	0.000002	T	0.63307	0.2500	L	0.55481	1.735	0.52099	D	0.999941	D;D;B;D;P	0.76494	0.968;0.999;0.386;0.997;0.822	P;D;B;D;B	0.87578	0.81;0.998;0.085;0.994;0.359	T	0.67401	-0.5680	10	0.66056	D	0.02	.	14.6163	0.68552	0.0:0.0:1.0:0.0	.	361;361;352;361;352	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	I	352;352;328;361;361;361	ENSP00000378543:S352I;ENSP00000301935:S328I;ENSP00000342194:S361I	ENSP00000269778:S361I	S	+	2	0	NFIC	3400135	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.952000	0.93031	1.764000	0.52075	0.561000	0.74099	AGC	.	.	.	none		0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597	
PLIN4	729359	hgsc.bcm.edu	37	19	4511775	4511775	+	Missense_Mutation	SNP	C	C	G	rs368515268		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:4511775C>G	ENST00000301286.3	-	3	2154	c.2155G>C	c.(2155-2157)Gtc>Ctc	p.V719L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	719	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCACTGCAGACGGTGTCCTTG	0.572																																					p.V719L		Atlas-SNP	.											PLIN4_ENST00000301286,colon,carcinoma,0,2	PLIN4	191	.	0			c.G2155C						PASS	.						215.0	218.0	217.0					19																	4511775		2100	4210	6310	SO:0001583	missense	729359	exon3			TGCAGACGGTGTC	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2155G>C	chr19.hg19:g.4511775C>G	ENSP00000301286:p.Val719Leu	153.0	0.0	.		123.0	5.0	.	NM_001080400	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	hg19	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662091	0.29515	.	.	ENSG00000167676	ENST00000301286	T	0.08102	3.13	4.59	2.38	0.29361	.	0.438854	0.16196	N	0.225159	T	0.11367	0.0277	M	0.83692	2.655	0.09310	N	0.999998	B	0.12630	0.006	B	0.13407	0.009	T	0.41858	-0.9485	10	0.12766	T	0.61	-8.0371	8.0958	0.30826	0.0:0.7475:0.1587:0.0938	.	719	Q96Q06	PLIN4_HUMAN	L	719	ENSP00000301286:V719L	ENSP00000301286:V719L	V	-	1	0	PLIN4	4462775	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.421000	0.01031	0.336000	0.23639	0.205000	0.17691	GTC	.	.	.	alt		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
ZNF709	163051	hgsc.bcm.edu	37	19	12575506	12575506	+	Silent	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:12575506A>G	ENST00000397732.3	-	4	1401	c.1230T>C	c.(1228-1230)caT>caC	p.H410H	ZNF709_ENST00000428311.1_Silent_p.H410H|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GAGTTCTTTCATGCATTCGAA	0.413																																					p.H410H	GBM(33;565 669 12371 29134 51667)	Atlas-SNP	.											.	ZNF709	80	.	0			c.T1230C						PASS	.						104.0	108.0	106.0					19																	12575506		2201	4299	6500	SO:0001819	synonymous_variant	163051	exon4			TCTTTCATGCATT	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1230T>C	chr19.hg19:g.12575506A>G		110.0	0.0	.		92.0	33.0	.	NM_152601	A8K4E6	Silent	SNP	ENST00000397732.3	hg19	CCDS42504.1																																																																																			.	.	.	none		0.413	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
SIN3B	23309	hgsc.bcm.edu	37	19	16974595	16974595	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:16974595C>T	ENST00000248054.5	+	10	1392	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	SIN3B_ENST00000595541.1_Silent_p.D47D|SIN3B_ENST00000379803.1_Silent_p.D489D					SIN3 transcription regulator family member B									p.D489D(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTGTGAGGACGAGCGCTTCG	0.617																																					p.D489D		Atlas-SNP	.											SIN3B,NS,carcinoma,0,2	SIN3B	90	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1467T						PASS	.						114.0	83.0	93.0					19																	16974595		2203	4300	6503	SO:0001819	synonymous_variant	23309	exon11			TGAGGACGAGCGC	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1371C>T	chr19.hg19:g.16974595C>T		73.0	0.0	.		75.0	29.0	.	NM_015260		Silent	SNP	ENST00000248054.5	hg19																																																																																				.	.	.	none		0.617	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
FKBP8	23770	hgsc.bcm.edu	37	19	18652713	18652713	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:18652713T>A	ENST00000596558.2	-	2	177	c.68A>T	c.(67-69)gAc>gTc	p.D23V	FKBP8_ENST00000222308.4_Missense_Mutation_p.D23V|FKBP8_ENST00000610101.1_Missense_Mutation_p.D23V|FKBP8_ENST00000597960.3_Missense_Mutation_p.D23V|FKBP8_ENST00000608443.1_Missense_Mutation_p.D23V|FKBP8_ENST00000453489.2_Missense_Mutation_p.D52V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	23	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TACCTCGAAGTCCTCGAGCGG	0.632																																					p.D23V		Atlas-SNP	.											.	FKBP8	69	.	0			c.A68T						PASS	.						37.0	31.0	33.0					19																	18652713		2203	4300	6503	SO:0001583	missense	23770	exon2			TCGAAGTCCTCGA	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.68A>T	chr19.hg19:g.18652713T>A	ENSP00000472302:p.Asp23Val	119.0	0.0	.		80.0	25.0	.	NM_012181	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	hg19		.	.	.	.	.	.	.	.	.	.	T	8.207	0.799502	0.16397	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.44083	0.93;1.28;1.1	3.13	2.1	0.27182	.	0.058219	0.64402	D	0.000003	T	0.26738	0.0654	L	0.29908	0.895	0.35397	D	0.791268	P;B;B	0.35982	0.531;0.308;0.434	B;B;B	0.36030	0.216;0.051;0.11	T	0.23226	-1.0194	10	0.41790	T	0.15	-23.4139	5.7686	0.18241	0.0:0.1377:0.0:0.8623	.	52;23;23	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	V	23;23;52	ENSP00000222308:D23V;ENSP00000441267:D23V;ENSP00000388891:D52V	ENSP00000222308:D23V	D	-	2	0	FKBP8	18513713	1.000000	0.71417	0.999000	0.59377	0.075000	0.17131	1.562000	0.36353	0.621000	0.30232	0.402000	0.26972	GAC	.	.	.	none		0.632	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	
GPATCH1	55094	hgsc.bcm.edu	37	19	33600735	33600735	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:33600735C>T	ENST00000170564.2	+	11	1712	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	466					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGAGTCTGGCCCAGAACGCTC	0.537																																					p.A466A	Pancreas(67;88 1713 4567 18227)	Atlas-SNP	.											.	GPATCH1	79	.	0			c.C1398T						PASS	.						45.0	47.0	46.0					19																	33600735		2203	4300	6503	SO:0001819	synonymous_variant	55094	exon11			TCTGGCCCAGAAC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1398C>T	chr19.hg19:g.33600735C>T		228.0	0.0	.		218.0	78.0	.	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	hg19	CCDS12428.1																																																																																			.	.	.	none		0.537	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
STRN4	29888	hgsc.bcm.edu	37	19	47226540	47226540	+	Splice_Site	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:47226540G>A	ENST00000263280.6	-	13	1645	c.1596C>T	c.(1594-1596)gaC>gaT	p.D532D	STRN4_ENST00000539396.1_Splice_Site_p.D413D|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Splice_Site_p.D539D	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	532						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GCACGCTTGGGTCTGCACCCA	0.697																																					p.D539D		Atlas-SNP	.											.	STRN4	33	.	0			c.C1617T						PASS	.						18.0	17.0	17.0					19																	47226540		2111	4136	6247	SO:0001630	splice_region_variant	29888	exon13			GCTTGGGTCTGCA	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1595-1C>T	chr19.hg19:g.47226540G>A		83.0	0.0	.		55.0	14.0	.	NM_001039877	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	hg19	CCDS12690.1																																																																																			.	.	.	none		0.697	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2		Silent
ZNF543	125919	hgsc.bcm.edu	37	19	57839668	57839668	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:57839668G>A	ENST00000321545.4	+	4	1183	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACAGTGGAGAGAAGCCTTA	0.522																																					p.E280K		Atlas-SNP	.											.	ZNF543	61	.	0			c.G838A						PASS	.						54.0	53.0	53.0					19																	57839668		2203	4300	6503	SO:0001583	missense	125919	exon4			AGTGGAGAGAAGC	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.838G>A	chr19.hg19:g.57839668G>A	ENSP00000322545:p.Glu280Lys	100.0	0.0	.		96.0	4.0	.	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	hg19	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967976	0.53507	.	.	ENSG00000178229	ENST00000321545	T	0.24350	1.86	2.58	1.54	0.23209	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33147	0.0853	N	0.25245	0.725	0.27992	N	0.935614	D	0.89917	1.0	D	0.91635	0.999	T	0.13683	-1.0500	9	0.87932	D	0	.	8.9097	0.35546	0.1221:0.0:0.8779:0.0	.	280	Q08ER8	ZN543_HUMAN	K	280	ENSP00000322545:E280K	ENSP00000322545:E280K	E	+	1	0	ZNF543	62531480	1.000000	0.71417	0.436000	0.26797	0.434000	0.31775	4.493000	0.60341	0.650000	0.30769	0.561000	0.74099	GAG	.	.	.	none		0.522	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
KCNB1	3745	hgsc.bcm.edu	37	20	47991224	47991224	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr20:47991224A>T	ENST00000371741.4	-	2	1039	c.873T>A	c.(871-873)aaT>aaA	p.N291K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	291					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CGCGGCGGACATTCTGGAATT	0.532																																					p.N291K		Atlas-SNP	.											KCNB1,caecum,carcinoma,0,1	KCNB1	142	.	0			c.T873A						PASS	.						89.0	84.0	86.0					20																	47991224		2203	4300	6503	SO:0001583	missense	3745	exon2			GCGGACATTCTGG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.873T>A	chr20.hg19:g.47991224A>T	ENSP00000360806:p.Asn291Lys	153.0	0.0	.		168.0	47.0	.	NM_004975	Q14193	Missense_Mutation	SNP	ENST00000371741.4	hg19	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877204	0.51801	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97553	-4.43	6.02	-12.0	0.00017	Ion transport (1);	0.099189	0.64402	D	0.000003	D	0.96494	0.8856	L	0.39397	1.21	0.36927	D	0.891708	D	0.89917	1.0	D	0.79108	0.992	D	0.96575	0.9426	10	0.72032	D	0.01	.	22.2779	0.99969	0.8078:0.0:0.1922:0.0	.	291	Q14721	KCNB1_HUMAN	K	291;246	ENSP00000360806:N291K	ENSP00000360806:N291K	N	-	3	2	KCNB1	47424631	0.000000	0.05858	0.114000	0.21550	0.973000	0.67179	-1.491000	0.02302	-2.492000	0.00516	-0.912000	0.02778	AAT	.	.	.	none		0.532	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
ZNF831	128611	hgsc.bcm.edu	37	20	57829325	57829325	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr20:57829325G>C	ENST00000371030.2	+	5	4561	c.4561G>C	c.(4561-4563)Ggg>Cgg	p.G1521R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1521							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGACTGCAGGGAGGACTCT	0.517																																					p.G1521R		Atlas-SNP	.											.	ZNF831	287	.	0			c.G4561C						PASS	.						40.0	44.0	42.0					20																	57829325		2112	4245	6357	SO:0001583	missense	128611	exon5			ACTGCAGGGAGGA	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4561G>C	chr20.hg19:g.57829325G>C	ENSP00000360069:p.Gly1521Arg	81.0	0.0	.		141.0	69.0	.	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591315	0.46214	.	.	ENSG00000124203	ENST00000371030	T	0.04654	3.58	5.46	1.13	0.20643	.	0.926151	0.09118	N	0.846118	T	0.05914	0.0154	L	0.57536	1.79	0.09310	N	1	B	0.19583	0.037	B	0.12837	0.008	T	0.39292	-0.9621	10	0.54805	T	0.06	-4.3833	3.834	0.08886	0.2676:0.0:0.5651:0.1673	.	1521	Q5JPB2	ZN831_HUMAN	R	1521	ENSP00000360069:G1521R	ENSP00000360069:G1521R	G	+	1	0	ZNF831	57262720	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.188000	0.09642	0.291000	0.22468	0.650000	0.86243	GGG	.	.	.	none		0.517	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
RWDD2B	10069	hgsc.bcm.edu	37	21	30378846	30378846	+	Silent	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr21:30378846A>T	ENST00000493196.1	-	5	952	c.852T>A	c.(850-852)gtT>gtA	p.V284V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	284										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TGGCTCCATTAACACTGAACA	0.388																																					p.V284V		Atlas-SNP	.											.	RWDD2B	24	.	0			c.T852A						PASS	.						124.0	112.0	116.0					21																	30378846		2203	4300	6503	SO:0001819	synonymous_variant	10069	exon5			TCCATTAACACTG	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.852T>A	chr21.hg19:g.30378846A>T		128.0	0.0	.		115.0	50.0	.	NM_016940		Silent	SNP	ENST00000493196.1	hg19	CCDS13582.1																																																																																			.	.	.	none		0.388	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		
CSNK1E	1454	hgsc.bcm.edu	37	22	38694925	38694925	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr22:38694925A>T	ENST00000396832.1	-	7	1011	c.751T>A	c.(751-753)Tac>Aac	p.Y251N	CSNK1E_ENST00000405675.3_Missense_Mutation_p.Y251N|CSNK1E_ENST00000359867.3_Missense_Mutation_p.Y251N|CSNK1E_ENST00000403904.1_Missense_Mutation_p.Y251N|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Missense_Mutation_p.Y251N|CSNK1E_ENST00000413574.2_Missense_Mutation_p.Y251N	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					AAGTTGAGGTATGTTGAGAAT	0.592																																					p.Y251N	Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	Atlas-SNP	.											.	CSNK1E	143	.	0			c.T751A						PASS	.						167.0	155.0	159.0					22																	38694925		2203	4300	6503	SO:0001583	missense	1454	exon7			TGAGGTATGTTGA		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.751T>A	chr22.hg19:g.38694925A>T	ENSP00000380044:p.Tyr251Asn	134.0	0.0	.		100.0	28.0	.	NM_001894		Missense_Mutation	SNP	ENST00000396832.1	hg19	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.15|15.15	2.748201|2.748201	0.49257|0.49257	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000451964|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675	.|T;T;T;T;T;T	.|0.12255	.|2.7;2.7;2.7;2.7;2.7;2.7	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.060906	.|0.64402	.|D	.|0.000002	T|T	0.58104|0.58104	0.2099|0.2099	H|H	0.99555|0.99555	4.625|4.625	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.78142|0.78142	-0.2319|-0.2319	5|10	.|0.87932	.|D	.|0	.|.	14.6566|14.6566	0.68838|0.68838	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|251;251;251	.|B0QY35;B0QY34;P49674	.|.;.;KC1E_HUMAN	Q|N	188|251	.|ENSP00000352929:Y251N;ENSP00000380044:Y251N;ENSP00000383067:Y251N;ENSP00000384074:Y251N;ENSP00000407235:Y251N;ENSP00000384426:Y251N	.|ENSP00000352929:Y251N	H|Y	-|-	3|1	2|0	CSNK1E|CSNK1E	37024871|37024871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.325000|9.325000	0.96381|0.96381	1.862000|1.862000	0.54008|0.54008	0.533000|0.533000	0.62120|0.62120	CAT|TAC	.	.	.	none		0.592	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894	
P2RY8	286530	hgsc.bcm.edu	37	X	1584748	1584748	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chrX:1584748G>C	ENST00000381297.4	-	2	914	c.704C>G	c.(703-705)gCg>gGg	p.A235G	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCCCACCGCGCGCCTCCG	0.662			T	CRLF2	"""B-ALL, Downs associated ALL"""																																p.A235G		Atlas-SNP	.		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	.	P2RY8	53	.	0			c.C704G						PASS	.						45.0	38.0	40.0					X																	1584748		2201	4294	6495	SO:0001583	missense	286530	exon2			CCCACCGCGCGCC	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.704C>G	chrX.hg19:g.1584748G>C	ENSP00000370697:p.Ala235Gly	172.0	0.0	.		94.0	38.0	.	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	hg19	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	14.43	2.532899	0.45073	.	.	ENSG00000182162	ENST00000381297	T	0.40756	1.02	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.338053	0.26738	U	0.022749	T	0.56124	0.1964	M	0.85630	2.765	0.09310	N	1	P	0.52170	0.951	P	0.50537	0.643	T	0.56111	-0.8033	10	0.56958	D	0.05	.	13.5149	0.61535	0.0:0.0:1.0:0.0	.	235	Q86VZ1	P2RY8_HUMAN	G	235	ENSP00000370697:A235G	ENSP00000370697:A235G	A	-	2	0	P2RY8	1544748	1.000000	0.71417	0.236000	0.24074	0.670000	0.39368	5.742000	0.68646	1.007000	0.39238	0.279000	0.19357	GCG	.	.	.	none		0.662	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
XKRX	402415	hgsc.bcm.edu	37	X	100183149	100183149	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chrX:100183149C>T	ENST00000372956.2	-	1	749	c.145G>A	c.(145-147)Gca>Aca	p.A49T	XKRX_ENST00000328526.5_Missense_Mutation_p.A62T|XKRX_ENST00000468904.1_Missense_Mutation_p.A49T			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AAAGCAGATGCAGCCTCCCCA	0.413																																					p.A49T		Atlas-SNP	.											.	XKRX	53	.	0			c.G145A						PASS	.						135.0	127.0	130.0					X																	100183149		2203	4300	6503	SO:0001583	missense	402415	exon1			CAGATGCAGCCTC	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.145G>A	chrX.hg19:g.100183149C>T	ENSP00000362047:p.Ala49Thr	210.0	0.0	.		192.0	150.0	.	NM_212559	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	hg19	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009363	0.35415	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T;T	0.64085	-0.08;-0.08;-0.08	5.17	2.09	0.27110	.	0.428985	0.25369	N	0.031170	T	0.42630	0.1211	L	0.28115	0.83	0.34225	D	0.675849	B	0.25441	0.126	B	0.28916	0.096	T	0.41179	-0.9523	10	0.15066	T	0.55	-0.4089	6.8026	0.23760	0.2543:0.6499:0.0:0.0958	.	49	Q6PP77	XKR2_HUMAN	T	62;49;49	ENSP00000327570:A62T;ENSP00000362047:A49T;ENSP00000419884:A49T	ENSP00000327570:A62T	A	-	1	0	XKRX	100069805	0.589000	0.26807	0.995000	0.50966	0.958000	0.62258	0.851000	0.27751	0.963000	0.38082	0.429000	0.28392	GCA	.	.	.	none		0.413	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559	
ATP2B3	492	hgsc.bcm.edu	37	X	152826188	152826188	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chrX:152826188C>A	ENST00000349466.2	+	18	3220	c.2894C>A	c.(2893-2895)cCc>cAc	p.P965H	ATP2B3_ENST00000393842.1_Missense_Mutation_p.P951H|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P965H|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P965H|ATP2B3_ENST00000370186.1_Missense_Mutation_p.P951H|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P951H			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	965					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTCGCCACCCTCAGAGCAC	0.562																																					p.P965H		Atlas-SNP	.											.	ATP2B3	552	.	0			c.C2894A						PASS	.						230.0	170.0	190.0					X																	152826188		2203	4300	6503	SO:0001583	missense	492	exon17			CGCCACCCTCAGA	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2894C>A	chrX.hg19:g.152826188C>A	ENSP00000343886:p.Pro965His	102.0	0.0	.		66.0	41.0	.	NM_001001344	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	hg19	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587407	0.66105	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77	4.99	4.99	0.66335	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.85130	0.997;0.889	D	0.98698	1.0699	10	0.87932	D	0	-26.3635	16.126	0.81395	0.0:1.0:0.0:0.0	.	965;965	Q16720;Q16720-2	AT2B3_HUMAN;.	H	951;965;951;965;965;951	ENSP00000359205:P951H;ENSP00000343886:P965H;ENSP00000377425:P951H;ENSP00000352062:P965H;ENSP00000263519:P965H;ENSP00000359200:P951H	ENSP00000263519:P965H	P	+	2	0	ATP2B3	152479382	1.000000	0.71417	0.082000	0.20525	0.421000	0.31385	7.728000	0.84847	2.057000	0.61298	0.519000	0.50382	CCC	.	.	.	none		0.562	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
MT-ND4	4538	hgsc.bcm.edu	37	M	11622	11622	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chrM:11622A>G	ENST00000361381.2	+	1	863	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	MT-TR_ENST00000387439.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TS2_ENST00000387449.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	288					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						GCTCATTGCATACTCTTCAAT	0.468																																					p.Y288C		Atlas-SNP	.											.	.	.	.	0			c.A863G						PASS	.																																			SO:0001583	missense	0	exon1			TTGCATACTCTTC			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.863A>G	chrM.hg19:g.11622A>G	ENSP00000354961:p.Tyr288Cys	10.0	0.0	.		40.0	13.0	.	ENST00000361381	Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	hg19																																																																																				.	.	.	none		0.468	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035	
MT-ND5	4540	hgsc.bcm.edu	37	M	14120	14120	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chrM:14120T>C	ENST00000361567.2	+	1	1784	c.1784T>C	c.(1783-1785)cTc>cCc	p.L595P	MT-TL2_ENST00000387456.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTTCTTCCCACTCATCCTAAC	0.383																																					p.L595P		Atlas-SNP	.											.	.	.	.	0			c.T1784C						PASS	.																																			SO:0001583	missense	0	exon1			TCCCACTCATCCT			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1784T>C	chrM.hg19:g.14120T>C	ENSP00000354813:p.Leu595Pro	18.0	0.0	.		43.0	25.0	.	ENST00000361567	Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	hg19																																																																																				.	.	.	none		0.383	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036	
MUC4	4585	hgsc.bcm.edu	37	3	195514852	195514852	+	Frame_Shift_Del	DEL	G	G	-	rs201132617		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr3:195514852delG	ENST00000463781.3	-	2	4058	c.3599delC	c.(3598-3600)cctfs	p.P1200fs	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Del_p.P1200fs	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	684	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAAGAAGAGGGGTGGCGTG	0.582																																					p.P1200fs		Atlas-Indel,Pindel	.											.	MUC4	1505	.	0			c.3600delT						PASS	.						1.0	1.0	1.0					3																	195514852		185	453	638	SO:0001589	frameshift_variant	4585	exon2			.	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3599delC	chr3.hg19:g.195514852delG	ENSP00000417498:p.Pro1200fs	118.0	0.0	0		131.0	35.0	0.267176	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Del	DEL	ENST00000463781.3	hg19	CCDS54700.1																																																																																			.	.	.	none		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
P4HA3	283208	hgsc.bcm.edu	37	11	74009326	74009327	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:74009326_74009327insC	ENST00000331597.4	-	4	692_693	c.647_648insG	c.(646-648)ggafs	p.G216fs	P4HA3_ENST00000427714.2_Frame_Shift_Ins_p.G216fs	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	216						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCTTCCACTCTCCGTAAGATCC	0.49																																					p.G216fs		Atlas-Indel,Pindel	.											.	P4HA3	43	.	0			c.648_649insG						PASS	.																																			SO:0001589	frameshift_variant	283208	exon4			.	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.648dupG	chr11.hg19:g.74009328_74009328dupC	ENSP00000332170:p.Gly216fs	28.0	0.0	0		74.0	27.0	0.364865	NM_182904	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Frame_Shift_Ins	INS	ENST00000331597.4	hg19	CCDS8230.1																																																																																			.	.	.	none		0.490	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904	
CLCN3	1182	hgsc.bcm.edu	37	4	170613433	170613433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr4:170613433delT	ENST00000513761.1	+	7	1457	c.898delT	c.(898-900)tttfs	p.F300fs	CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F283fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F300fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F300fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	300					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTCCTACCTCTTTCCAAAGTA	0.358																																					p.L299fs		Atlas-Indel,Pindel	.											CLCN3,NS,carcinoma,0,1	CLCN3	85	.	0			c.897delC						PASS	.						140.0	138.0	139.0					4																	170613433		2203	4300	6503	SO:0001589	frameshift_variant	1182	exon7			.	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.898delT	chr4.hg19:g.170613433delT	ENSP00000424603:p.Phe300fs	159.0	0.0	0		208.0	66.0	0.317308	NM_001243372	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Frame_Shift_Del	DEL	ENST00000513761.1	hg19	CCDS34101.1																																																																																			.	.	.	none		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
EPHX2	2053	hgsc.bcm.edu	37	8	27398077	27398077	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr8:27398077delT	ENST00000521400.1	+	15	1713	c.1283delT	c.(1282-1284)cttfs	p.L428fs	EPHX2_ENST00000521780.1_Frame_Shift_Del_p.L362fs|EPHX2_ENST00000517536.1_Frame_Shift_Del_p.L245fs|EPHX2_ENST00000518379.1_Frame_Shift_Del_p.L396fs|EPHX2_ENST00000380476.3_Frame_Shift_Del_p.L375fs	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	428	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GCAGGAGGACTTTTTGTAAAT	0.498																																					p.L428fs		Atlas-Indel,Pindel	.											.	EPHX2	57	.	0			c.1282delC						PASS	.						73.0	78.0	76.0					8																	27398077		2203	4300	6503	SO:0001589	frameshift_variant	2053	exon15			.	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1283delT	chr8.hg19:g.27398077delT	ENSP00000430269:p.Leu428fs	141.0	0.0	0		142.0	47.0	0.330986	NM_001979	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Frame_Shift_Del	DEL	ENST00000521400.1	hg19	CCDS6060.1																																																																																			.	.	.	none		0.498	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4		
KRTAP5-5	439915	hgsc.bcm.edu	37	11	1651643	1651645	+	In_Frame_Del	DEL	CTA	CTA	-	rs576867883|rs4752771|rs71025765|rs77039648		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:1651643_1651645delCTA	ENST00000399676.2	+	1	611_613	c.573_575delCTA	c.(571-576)ccctac>ccc	p.Y192del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	192	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.Y182_P191delYCCQSSCCKP(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGTAAGCCCTACTGCTGCCAG	0.606																																					p.191_192del		Atlas-INDEL	.											.	KRTAP5-5	86	.	1	Deletion - In frame(1)	urinary_tract(1)	c.572_574del						PASS	.																																			SO:0001651	inframe_deletion	439915	exon1			.	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.573_575delCTA	chr11.hg19:g.1651643_1651645delCTA	ENSP00000382584:p.Tyr192del	70.0	0.0	0		56.0	14.0	0.25	NM_001001480	A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	hg19	CCDS41592.1																																																																																			.	.	.	none		0.606	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1		
DNMT3A	1788	hgsc.bcm.edu	37	2	25467157	25467158	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:25467157_25467158insG	ENST00000264709.3	-	15	2054_2055	c.1717_1718insC	c.(1717-1719)cagfs	p.Q573fs	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Frame_Shift_Ins_p.Q573fs|DNMT3A_ENST00000380746.4_Frame_Shift_Ins_p.Q384fs|DNMT3A_ENST00000402667.1_Frame_Shift_Ins_p.Q350fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	573	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.A572_A574del(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGCTGCCTGGGCAGCCCCC	0.658			"""Mis, F, N, S"""		AML																																p.Q573fs		Atlas-Indel,Pindel	.		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	DNMT3A	1807	.	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.1718_1719insC						PASS	.																																			SO:0001589	frameshift_variant	1788	exon15			.		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1718dupC	chr2.hg19:g.25467160_25467160dupG	ENSP00000264709:p.Gln573fs	119.0	0.0	0		86.0	55.0	0.639535	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Ins	INS	ENST00000264709.3	hg19	CCDS33157.1																																																																																			.	.	.	none		0.658	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
TMEM50B	757	hgsc.bcm.edu	37	21	34841130	34841131	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr21:34841130_34841131delTC	ENST00000542230.2	-	2	276_277	c.62_63delGA	c.(61-63)agafs	p.R22fs		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	22						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CAGCATTTCTTCTCTCACTCCA	0.396																																					p.21_22del		Atlas-Indel,Pindel	.											.	TMEM50B	25	.	0			c.63_64del						PASS	.																																			SO:0001589	frameshift_variant	757	exon2			.	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.62_63delGA	chr21.hg19:g.34841134_34841135delTC	ENSP00000439768:p.Arg22fs	76.0	0.0	0		102.0	28.0	0.27451	NM_006134	B2R4L4|D3DSF1|O60537|Q5PY47	Frame_Shift_Del	DEL	ENST00000542230.2	hg19	CCDS13625.1																																																																																			.	.	.	none		0.396	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5		
PLLP	51090	hgsc.bcm.edu	37	16	57292497	57292497	+	Splice_Site	DEL	C	C	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr16:57292497delC	ENST00000219207.5	-	3	456		c.e3-1		PLLP_ENST00000569059.1_Splice_Site	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin						ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611)	compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)				endometrium(1)|prostate(1)	2						AGATCATTAACTGCAGGACAT	0.562																																					p.L104X		Atlas-Indel,Pindel	.											.	PLLP	11	.	0			c.310delT						PASS	.						79.0	77.0	78.0					16																	57292497		2198	4300	6498	SO:0001630	splice_region_variant	51090	exon3			.	AF137386	CCDS10777.1	16q13	2010-06-24	2010-06-24	2005-03-21	ENSG00000102934	ENSG00000102934			18553	protein-coding gene	gene with protein product	"""plasma membrane proteolipid"""	600340	"""transmembrane 4 superfamily member 11 (plasmolipin)"", ""plasma membrane proteolipid (plasmolipin)"""	TM4SF11		11707781	Standard	NM_015993		Approved	PMLP	uc002elg.2	Q9Y342	OTTHUMG00000133465	ENST00000219207.5:c.310-1G>-	chr16.hg19:g.57292497delC		104.0	0.0	0		96.0	19.0	0.197917	NM_015993	B2R9T6	Frame_Shift_Del	DEL	ENST00000219207.5	hg19	CCDS10777.1																																																																																			.	.	.	none		0.562	PLLP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257341.2		Intron
AAAS	8086	hgsc.bcm.edu	37	12	53701653	53701655	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:53701653_53701655delGAA	ENST00000209873.4	-	15	1555_1557	c.1390_1392delTTC	c.(1390-1392)ttcdel	p.F464del	AAAS_ENST00000394384.3_In_Frame_Del_p.F431del|AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000550286.1_In_Frame_Del_p.F340del	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	464					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCTTTGTTGAAGGAAGGATGG	0.596																																					p.464_465del		Atlas-Indel,Pindel	.											.	AAAS	46	.	0			c.1391_1393del						PASS	.																																			SO:0001651	inframe_deletion	8086	exon15			.	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1390_1392delTTC	chr12.hg19:g.53701653_53701655delGAA	ENSP00000209873:p.Phe464del	110.0	0.0	0		132.0	64.0	0.484848	NM_015665	Q5JB47|Q9NWI6|Q9UG19	In_Frame_Del	DEL	ENST00000209873.4	hg19	CCDS8856.1																																																																																			.	.	.	none		0.596	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1		
OR6C1	390321	hgsc.bcm.edu	37	12	55714634	55714634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:55714634delT	ENST00000379668.2	+	1	289	c.251delT	c.(250-252)attfs	p.I84fs		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GGTAACATTATTTCAGGAGAT	0.388																																					p.I84fs		Atlas-Indel,Pindel	.											.	OR6C1	58	.	0			c.250delA						PASS	.						60.0	63.0	62.0					12																	55714634		2202	4299	6501	SO:0001589	frameshift_variant	390321	exon1			.	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.251delT	chr12.hg19:g.55714634delT	ENSP00000368990:p.Ile84fs	30.0	0.0	0		83.0	47.0	0.566265	NM_001005182	B2RNM0	Frame_Shift_Del	DEL	ENST00000379668.2	hg19	CCDS31818.1																																																																																			.	.	.	none		0.388	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182	
DNAH2	146754	hgsc.bcm.edu	37	17	7663108	7663108	+	Splice_Site	DEL	G	G	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:7663108delG	ENST00000572933.1	+	17	4097		c.e17-1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTTCCTCACAGGTGGAATTCT	0.517																																					.		Atlas-Indel,Pindel	.											.	DNAH2	498	.	0			c.2638-2G>-						PASS	.						200.0	181.0	188.0					17																	7663108		2203	4300	6503	SO:0001630	splice_region_variant	146754	exon16			.	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2638-1G>-	chr17.hg19:g.7663108delG		93.0	0.0	0		113.0	23.0	0.20354	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	DEL	ENST00000572933.1	hg19	CCDS32551.1																																																																																			.	.	.	none		0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Intron
SUGP2	10147	hgsc.bcm.edu	37	19	19106049	19106049	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:19106049delT	ENST00000601879.1	-	9	3329	c.3032delA	c.(3031-3033)gatfs	p.D1011fs	SUGP2_ENST00000600377.1_Frame_Shift_Del_p.D1025fs|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.D1011fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.D1011fs|AC004447.2_ENST00000594142.1_RNA|SUGP2_ENST00000456085.2_Frame_Shift_Del_p.D780fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	1011	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGGTTCTTATCGGTCAGCTT	0.602																																					p.D1011fs		Atlas-Indel,Pindel	.											.	SUGP2	107	.	0			c.3033delT						PASS	.						66.0	53.0	58.0					19																	19106049		2203	4300	6503	SO:0001589	frameshift_variant	10147	exon9			.	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.3032delA	chr19.hg19:g.19106049delT	ENSP00000472286:p.Asp1011fs	71.0	0.0	0		58.0	19.0	0.327586	NM_001017392	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Del	DEL	ENST00000601879.1	hg19	CCDS12392.1																																																																																			.	.	.	none		0.602	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
VDAC3	7419	hgsc.bcm.edu	37	8	42262963	42262963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr8:42262963delT	ENST00000022615.4	+	10	903	c.835delT	c.(835-837)tttfs	p.F279fs	VDAC3_ENST00000392935.3_Frame_Shift_Del_p.F280fs|VDAC3_ENST00000521158.1_Frame_Shift_Del_p.F280fs|VDAC3_ENST00000522572.1_Frame_Shift_Del_p.F130fs			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	279					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGGCTTGGGATTTGAACTGGA	0.408																																					p.G279fs		Atlas-Indel,Pindel	.											.	VDAC3	17	.	0			c.837delA						PASS	.						166.0	161.0	163.0					8																	42262963		2203	4300	6503	SO:0001589	frameshift_variant	7419	exon10			.	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.835delT	chr8.hg19:g.42262963delT	ENSP00000022615:p.Phe279fs	146.0	0.0	0		145.0	43.0	0.296552	NM_001135694	Q9UIS0	Frame_Shift_Del	DEL	ENST00000022615.4	hg19	CCDS6131.1																																																																																			.	.	.	none		0.408	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1		
MUC4	4585	hgsc.bcm.edu	37	3	195514228	195514228	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr3:195514228delG	ENST00000463781.3	-	2	4682	c.4223delC	c.(4222-4224)cctfs	p.P1408fs	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Del_p.P1408fs	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAAGAAGAGGGGTGGCGTG	0.582																																					p.P1408fs		Atlas-Indel,Pindel	.											.	MUC4	1505	.	0			c.4224delT						PASS	.						1.0	1.0	1.0					3																	195514228		9	102	111	SO:0001589	frameshift_variant	4585	exon2			.	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4223delC	chr3.hg19:g.195514228delG	ENSP00000417498:p.Pro1408fs	103.0	0.0	0		111.0	23.0	0.207207	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Del	DEL	ENST00000463781.3	hg19	CCDS54700.1																																																																																			.	.	.	none		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ZFP36L2	678	hgsc.bcm.edu	37	2	43451900	43451925	+	Frame_Shift_Del	DEL	GCCCCCGGCGCCAGCAGGTCCTCGGC	GCCCCCGGCGCCAGCAGGTCCTCGGC	-	rs1050381		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	GCCCCCGGCGCCAGCAGGTCCTCGGC	GCCCCCGGCGCCAGCAGGTCCTCGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:43451900_43451925delGCCCCCGGCGCCAGCAGGTCCTCGGC	ENST00000282388.3	-	2	1311_1336	c.1018_1043delGCCGAGGACCTGCTGGCGCCGGGGGC	c.(1018-1044)gccgaggacctgctggcgccgggggccfs	p.AEDLLAPGA340fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	340					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCGCACGGGGCCCCCGGCGCCAGCAGGTCCTCGGCGCCCCCGGTG	0.77																																					p.340_348del		Atlas-Indel,Pindel	.											.	ZFP36L2	56	.	0			c.1019_1044del						PASS	.																																			SO:0001589	frameshift_variant	678	exon2			.	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1018_1043delGCCGAGGACCTGCTGGCGCCGGGGGC	chr2.hg19:g.43451900_43451925delGCCCCCGGCGCCAGCAGGTCCTCGGC	ENSP00000282388:p.Ala340fs	47.0	0.0	0		29.0	17.0	0.586207	NM_006887	Q53TB4|Q9BSJ3	Frame_Shift_Del	DEL	ENST00000282388.3	hg19	CCDS1811.1																																																																																			.	.	.	none		0.770	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887	
SPTBN1	6711	hgsc.bcm.edu	37	2	54839382	54839392	+	Frame_Shift_Del	DEL	CATCTTGAGAA	CATCTTGAGAA	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	CATCTTGAGAA	CATCTTGAGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:54839382_54839392delCATCTTGAGAA	ENST00000356805.4	+	4	666_676	c.385_395delCATCTTGAGAA	c.(385-396)catcttgagaacfs	p.HLEN129fs	SPTBN1_ENST00000333896.5_Frame_Shift_Del_p.HLEN116fs	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	129	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAGAGAGTCCATCTTGAGAACATGGGGTCC	0.555																																					p.128_132del		Atlas-Indel,Pindel	.											.	SPTBN1	378	.	0			c.384_394del						PASS	.																																			SO:0001589	frameshift_variant	6711	exon4			.		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.385_395delCATCTTGAGAA	chr2.hg19:g.54839382_54839392delCATCTTGAGAA	ENSP00000349259:p.His129fs	98.0	0.0	0		122.0	67.0	0.54918	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Frame_Shift_Del	DEL	ENST00000356805.4	hg19	CCDS33198.1																																																																																			.	.	.	none		0.555	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
PLVAP	83483	hgsc.bcm.edu	37	19	17471595	17471595	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:17471595delT	ENST00000252590.4	-	4	1287	c.1226delA	c.(1225-1227)aacfs	p.N409fs	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	409					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCTGGGGGTTGGGGACAGG	0.627																																					p.N409fs		Atlas-Indel,Pindel	.											.	PLVAP	64	.	0			c.1227delC						PASS	.						52.0	54.0	53.0					19																	17471595		2203	4300	6503	SO:0001589	frameshift_variant	83483	exon4			.	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1226delA	chr19.hg19:g.17471595delT	ENSP00000252590:p.Asn409fs	151.0	0.0	0		119.0	35.0	0.294118	NM_031310	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Frame_Shift_Del	DEL	ENST00000252590.4	hg19	CCDS32952.1																																																																																			.	.	.	none		0.627	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310	
