#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IGV	i_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
SLC2A7	155184	bcgsc.ca	37	1	9074839	9074839	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:9074839G>T	ENST00000400906.1	-	7	803	c.804C>A	c.(802-804)caC>caA	p.H268Q		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	268					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACAGACAGGTGGCCCTCGG	0.687																																					p.H268Q													.	SLC2A7	56		0			c.C804A												25.0	24.0	24.0					1																	9074839		2196	4293	6489	SO:0001583	missense	155184	exon7			AGACAGGTGGCCC	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.804C>A	1.37:g.9074839G>T	ENSP00000383698:p.His268Gln		Somatic	50	0.02	1		WXS	Illumina HiSeq	Phase_1	86	0.00	0	NM_207420	1	0.00	0	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	0.704	-0.789885	0.02884	.	.	ENSG00000197241	ENST00000400906	T	0.58506	0.33	4.12	2.12	0.27331	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.323070	0.04971	N	0.463895	T	0.27349	0.0671	N	0.01464	-0.85	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.23332	-1.0191	10	0.14252	T	0.57	.	4.2021	0.10471	0.0879:0.2699:0.4988:0.1434	.	268	Q6PXP3	GTR7_HUMAN	Q	268	ENSP00000383698:H268Q	ENSP00000383698:H268Q	H	-	3	2	SLC2A7	8997426	0.001000	0.12720	0.184000	0.23157	0.042000	0.13812	0.070000	0.14573	0.321000	0.23259	0.491000	0.48974	CAC			0.687	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127768.3		NM_207420	
PTCHD2	57540	bcgsc.ca	37	1	11580781	11580781	+	Silent	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:11580781C>T	ENST00000294484.6	+	10	2376	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PTCHD2_ENST00000389575.3_Silent_p.F746F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	746					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTGGTGTTCGCCAGCCGGC	0.662																																					p.F746F													.	PTCHD2	193		0			c.C2238T												33.0	38.0	37.0					1																	11580781		1942	4138	6080	SO:0001819	synonymous_variant	57540	exon10			GGTGTTCGCCAGC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2238C>T	1.37:g.11580781C>T			Somatic	159	0.0062893082	1		WXS	Illumina HiSeq	Phase_1	300	0.01	2	NM_020780	1	0.00	0	Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	CCDS41247.1																																																																																					0.662	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000005770.2		XM_052561	
CROCCP2	84809	broad.mit.edu	37	1	16946455	16946456	+	lincRNA	INS	-	-	GCTCACGCTGCA			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:16946455_16946456insGCTCACGCTGCA	ENST00000412962.1	-	0	1063_1064				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CAGCTCCTCCTGCTCACGCTGC	0.678																																					.													.	.			0			.																																											0	.			TCCTCCTGCTCAC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946455_16946456insGCTCACGCTGCA			Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	128	0.07	9	.	10	0.00	0	Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.678	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000092784.1		NR_026752.1	
KLHDC7A	127707	broad.mit.edu	37	1	18809307	18809307	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:18809307G>T	ENST00000400664.1	+	1	1884	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	611						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGACCGCTGGGACTTT	0.706																																					p.R611L													.	KLHDC7A	60		0			c.G1832T												23.0	24.0	24.0					1																	18809307		2202	4295	6497	SO:0001583	missense	127707	exon1			TGGACCGCTGGGA	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1832G>T	1.37:g.18809307G>T	ENSP00000383505:p.Arg611Leu		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	144	0.02	3	NM_152375	0		0	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013987	0.75161	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78003	-1.14	5.2	3.32	0.38043	Kelch-type beta propeller (1);	0.065733	0.56097	D	0.000029	T	0.73923	0.3649	L	0.31526	0.94	0.35371	D	0.789094	P;P	0.43477	0.808;0.596	P;P	0.51516	0.672;0.539	T	0.78705	-0.2100	10	0.87932	D	0	.	8.8723	0.35323	0.079:0.0:0.7718:0.1492	.	548;611	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	L	611;548	ENSP00000383505:R611L	ENSP00000383505:R611L	R	+	2	0	KLHDC7A	18681894	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.036000	0.57304	0.577000	0.29470	0.561000	0.74099	CGC			0.706	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006923.3		NM_152375	
FAM110D	79927	bcgsc.ca	37	1	26487994	26487994	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:26487994G>A	ENST00000374268.3	+	2	399	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_024869.2	NP_079145.2	Q8TAY7	F110D_HUMAN	family with sequence similarity 110, member D	71																	AGGCCGGTCCGCCGGGGAAGC	0.701																																					p.R71H													.	.			0			c.G212A												3.0	4.0	4.0					1																	26487994		1612	3607	5219	SO:0001583	missense	79927	exon2			CGGTCCGCCGGGG		CCDS41285.1	1p36.11	2011-12-01	2011-12-01	2011-12-01	ENSG00000197245	ENSG00000197245			25860	protein-coding gene	gene with protein product			"""glycine/arginine rich protein 1"""	GRRP1		12477932	Standard	NM_024869		Approved	FLJ14050	uc001blk.3	Q8TAY7	OTTHUMG00000007537	ENST00000374268.3:c.212G>A	1.37:g.26487994G>A	ENSP00000363386:p.Arg71His		Somatic	106	0.0094339623	1		WXS	Illumina HiSeq	Phase_1	189	0.00	0	NM_024869	1	0.00	0	A8K3V0|Q9H7Z4	Missense_Mutation	SNP	ENST00000374268.3	37	CCDS41285.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139916	0.77775	.	.	ENSG00000197245	ENST00000374268	T	0.40476	1.03	4.29	4.29	0.51040	.	0.790513	0.11420	U	0.565862	T	0.63283	0.2498	M	0.64170	1.965	0.44736	D	0.997734	D	0.89917	1.0	D	0.77004	0.989	T	0.61262	-0.7098	10	0.52906	T	0.07	.	16.0243	0.80532	0.0:0.0:1.0:0.0	.	71	Q8TAY7	GRPP1_HUMAN	H	71	ENSP00000363386:R71H	ENSP00000363386:R71H	R	+	2	0	GRRP1	26360581	0.974000	0.33945	1.000000	0.80357	0.681000	0.39784	2.992000	0.49417	2.393000	0.81446	0.436000	0.28706	CGC			0.701	FAM110D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019841.1		NM_024869	
RPL5	6125	hgsc.bcm.edu;broad.mit.edu	37	1	93299200	93299201	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:93299200_93299201delAG	ENST00000370321.3	+	3	262_263	c.172_173delAG	c.(172-174)agafs	p.R58fs		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGTGACAAACAGAGATATCATT	0.371																																					p.57_58del													.	.			0			c.171_172del	GRCh37	CD086185	RPL5	D																																					SO:0001589	frameshift_variant	6125	exon3			ACAAACAGAGATA	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.172_173delAG	1.37:g.93299202_93299203delAG	ENSP00000359345:p.Arg58fs		Somatic	48	0	0		WXS	Illumina HiSeq	.	49	0.35	17	NM_000969	1926	0.00	0	Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Del	DEL	ENST00000370321.3	37	CCDS741.1																																																																																					0.371	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030058.2		NM_000969	
DCLRE1B	64858	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	114448290	114448290	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:114448290T>A	ENST00000369563.3	+	1	528	c.82T>A	c.(82-84)Ttc>Atc	p.F28I	AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000256658.4_5'Flank|AP4B1_ENST00000369569.1_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	28					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGTCTCTTCTTCTTGTCTCA	0.617								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.F28I													.	.			0			c.T82A												75.0	76.0	76.0					1																	114448290		2203	4300	6503	SO:0001583	missense	64858	exon1			CTCTTCTTCTTGT	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.82T>A	1.37:g.114448290T>A	ENSP00000358576:p.Phe28Ile		Somatic	109	0	0	1458	WXS	Illumina HiSeq	.	174	0.15	26	NM_022836	6	0.17	1	Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	T	36	5.696758	0.96802	.	.	ENSG00000118655	ENST00000369563	T	0.74106	-0.81	5.28	5.28	0.74379	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89186	0.3547	10	0.87932	D	0	-8.3128	15.2399	0.73461	0.0:0.0:0.0:1.0	.	28	Q9H816	DCR1B_HUMAN	I	28	ENSP00000358576:F28I	ENSP00000358576:F28I	F	+	1	0	DCLRE1B	114249813	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	7.776000	0.85560	1.998000	0.58463	0.459000	0.35465	TTC			0.617	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033020.2		NM_022836	
BRINP2	57795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	177249621	177249621	+	Silent	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:177249621C>T	ENST00000361539.4	+	8	1621	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	437					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TGGCACTTTCCTGGAACAGAG	0.582																																					p.L437L													.	.			0			c.C1309T												65.0	58.0	60.0					1																	177249621		2203	4300	6503	SO:0001819	synonymous_variant	57795	exon8			ACTTTCCTGGAAC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1309C>T	1.37:g.177249621C>T			Somatic	287	0	0		WXS	Illumina HiSeq	.	311	0.22	68	NM_021165	0		0	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	CCDS1320.1																																																																																					0.582	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084599.1		NM_021165	
Unknown	0	bcgsc.ca	37	1	189959978	189959978	+	IGR	SNP	A	A	G			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:189959978A>G								RP11-445J9.1 (122320 upstream) : BRINP3 (106813 downstream)																							AAAATTTTTCACTGTCCACAG	0.378																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TTTTTCACTGTCC																													1.37:g.189959978A>G			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_1	16	0.00	0	.	0		0		RNA	SNP		37																																																																																					0	0.378										
BRINP3	339479	bcgsc.ca	37	1	190068175	190068175	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:190068175G>C	ENST00000367462.3	-	8	1505	c.1274C>G	c.(1273-1275)tCg>tGg	p.S425W	BRINP3_ENST00000534846.1_Missense_Mutation_p.S323W	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	425					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											ACACGTGCACGAGTGCGTCTC	0.562																																					p.S425W													FAM5C,NS,carcinoma,+1,3	FAM5C	343	3	0			c.C1274G												53.0	41.0	45.0					1																	190068175		2203	4300	6503	SO:0001583	missense	339479	exon8			GTGCACGAGTGCG	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1274C>G	1.37:g.190068175G>C	ENSP00000356432:p.Ser425Trp		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_1	65	0.00	0	NM_199051	0		0	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290088	0.59976	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	D;D	0.87571	-2.27;-2.27	5.65	5.65	0.86999	.	0.117525	0.56097	D	0.000029	D	0.88811	0.6538	L	0.52573	1.65	0.80722	D	1	D;P	0.54964	0.969;0.947	P;P	0.51415	0.669;0.469	D	0.89843	0.4004	10	0.87932	D	0	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	323;425	B7Z260;Q76B58	.;FAM5C_HUMAN	W	425;323	ENSP00000356432:S425W;ENSP00000438022:S323W	ENSP00000356432:S425W	S	-	2	0	FAM5C	188334798	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.388000	0.59633	2.656000	0.90262	0.591000	0.81541	TCG			0.562	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086278.1		NM_199051	
EPRS	2058	broad.mit.edu	37	1	220151968	220151968	+	Missense_Mutation	SNP	G	G	T	rs528956807		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:220151968G>T	ENST00000366923.3	-	28	4272	c.4003C>A	c.(4003-4005)Ctc>Atc	p.L1335I		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1335	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTAACACTGAGTAATCGCCTT	0.393																																					p.L1335I													EPRS,NS,carcinoma,0,1	EPRS	140	1	0			c.C4003A												145.0	134.0	138.0					1																	220151968		2203	4300	6503	SO:0001583	missense	2058	exon28			CACTGAGTAATCG	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4003C>A	1.37:g.220151968G>T	ENSP00000355890:p.Leu1335Ile		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	83	0.06	5	NM_004446	235	0.00	1	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315494	0.60524	.	.	ENSG00000136628	ENST00000366923	D	0.83335	-1.71	5.92	5.92	0.95590	Anticodon-binding (3);	0.126324	0.56097	D	0.000029	T	0.81250	0.4783	L	0.46157	1.445	0.53005	D	0.999961	B	0.16802	0.019	B	0.23275	0.045	T	0.74067	-0.3784	10	0.37606	T	0.19	-4.4942	20.3214	0.98679	0.0:0.0:1.0:0.0	.	1335	P07814	SYEP_HUMAN	I	1335	ENSP00000355890:L1335I	ENSP00000355890:L1335I	L	-	1	0	EPRS	218218591	1.000000	0.71417	0.119000	0.21687	0.715000	0.41141	7.863000	0.87023	2.804000	0.96469	0.655000	0.94253	CTC			0.393	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091133.2		NM_004446	
OR14K1	343170	broad.mit.edu	37	1	247903046	247903047	+	IGR	DEL	TA	TA	-	rs199971894|rs59359555|rs75097034|rs79939436	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:247903046_247903047delTA	ENST00000283225.2	+	0	945				RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						tttttttttttaaaattttgag	0.391																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TTTTTTTAAAATT	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211		1.37:g.247903046_247903047delTA			Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	12	0.33	4	.	0		0	A8MPV5|Q6IF85|Q96R53	RNA	DEL	ENST00000283225.2	37																																																																																						0.391	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000096868.1		NM_001004732	
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	CGCCCCCCG	-	rs556055601	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	CGCCCCCCG	CGCCCCCCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr10:13699134_13699142delCGCCCCCCG	ENST00000357447.2	-	22	2815_2823	c.2447_2455delCGGGGGGCG	c.(2446-2457)gcggggggcggt>ggt	p.AGG816del	FRMD4A_ENST00000358621.4_In_Frame_Del_p.AGG801del|FRMD4A_ENST00000378503.1_In_Frame_Del_p.AGG816del	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	816					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGTACACAccgccccccgcgccccccgc	0.761														136	0.0271565	0.0666	0.0187	5008	,	,		3762	0.0		0.0179	False		,,,				2504	0.0174				p.816_819del													.	FRMD4A	108		0			c.2447_2455del									204,2252		73,58,1097						4.8	0.9			8	213,4449		76,61,2194	no	coding	FRMD4A	NM_018027.3		149,119,3291	A1A1,A1R,RR		4.5689,8.3062,5.8584				417,6701				SO:0001651	inframe_deletion	55691	exon22			ACACACCGCCCCC	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2447_2455delCGGGGGGCG	10.37:g.13699143_13699151delCGCCCCCCG	ENSP00000350032:p.Ala816_Gly818del		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	NM_018027	0		0	A7E2Y3|Q5T377	In_Frame_Del	DEL	ENST00000357447.2	37	CCDS7101.1																																																																																					0.761	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000046889.1		NM_018027	
CSGALNACT2	55454	hgsc.bcm.edu	37	10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	rs76607193	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																					p.R347X													CSGALNACT2,trunk,malignant_melanoma,0,1	CSGALNACT2	0	1	1	Substitution - Nonsense(1)	skin(1)	c.C1039T												191.0	181.0	184.0					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454	exon5			CGTGGACGAGGAC	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*		Somatic	101	0	0		WXS	Illumina HiSeq	.	81	0.05	4	NM_018590	9	0.00	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA	0.003		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047693.1		NM_018590	
FAM21A	387680	broad.mit.edu	37	10	47948782	47948782	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr10:47948782C>T	ENST00000358474.5	+	29	3691	c.3691C>T	c.(3691-3693)Cct>Tct	p.P1231S		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		1231					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACAGGCCGCACCTGAACCAAG	0.468																																					p.P1231S													.	FAM21B	31		0			c.C3691T												7.0	10.0	9.0					10																	47948782		542	2425	2967	SO:0001583	missense	55747	exon29			GCCGCACCTGAAC																												ENST00000358474.5:c.3691C>T	10.37:g.47948782C>T	ENSP00000351259:p.Pro1231Ser		Somatic	659	0	0		WXS	Illumina HiSeq	Phase_I	433	0.31	133	NM_018232	59	0.42	25		Missense_Mutation	SNP	ENST00000358474.5	37	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.853109	0.00563	.	.	ENSG00000152726	ENST00000358474;ENST00000543972;ENST00000355876	.	.	.	2.6	-1.04	0.10068	.	0.590250	0.18358	N	0.143656	T	0.11537	0.0281	N	0.11064	0.09	0.09310	N	1	B;B;B	0.20671	0.026;0.047;0.015	B;B;B	0.16289	0.015;0.015;0.015	T	0.23691	-1.0181	9	0.05959	T	0.93	-2.3271	1.7089	0.02888	0.1925:0.2869:0.3814:0.1392	.	1231;286;1298	Q5SNT6;Q5SRD0;B7ZME8	FA21B_HUMAN;FA21D_HUMAN;.	S	1231;488;1201	.	ENSP00000348138:P1201S	P	+	1	0	FAM21B	47468788	0.771000	0.28555	0.035000	0.18076	0.165000	0.22458	1.115000	0.31209	-0.597000	0.05813	0.152000	0.16155	CCT			0.468	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047871.2			
PTDSS2	81490	hgsc.bcm.edu;broad.mit.edu	37	11	488541	488541	+	Missense_Mutation	SNP	G	G	T	rs34809643	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:488541G>T	ENST00000308020.5	+	8	924	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	250					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GATCATGGACGTGCTCGTCTG	0.627																																					p.V250L													.	.			0			c.G748T												100.0	85.0	90.0					11																	488541		2203	4300	6503	SO:0001583	missense	81490	exon8			ATGGACGTGCTCG	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.748G>T	11.37:g.488541G>T	ENSP00000308258:p.Val250Leu		Somatic	46	0	0		WXS	Illumina HiSeq	.	66	0.06	4	NM_030783	88	0.00	0		Missense_Mutation	SNP	ENST00000308020.5	37	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668827	0.88348	.	.	ENSG00000174915	ENST00000308020	.	.	.	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.69637	0.3133	L	0.58510	1.815	0.80722	D	1	P	0.50943	0.94	P	0.51999	0.687	T	0.72743	-0.4201	9	0.52906	T	0.07	-21.6279	17.7506	0.88432	0.0:0.0:1.0:0.0	.	250	Q9BVG9	PTSS2_HUMAN	L	250	.	ENSP00000308258:V250L	V	+	1	0	PTDSS2	478541	1.000000	0.71417	0.959000	0.39883	0.564000	0.35744	9.400000	0.97290	2.519000	0.84933	0.462000	0.41574	GTG			0.627	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239301.2			
MUC6	4588	bcgsc.ca	37	11	1016801	1016801	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:1016801G>C	ENST00000421673.2	-	31	6050	c.6000C>G	c.(5998-6000)caC>caG	p.H2000Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2000	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTCTGAGGGTGTGATGGGG	0.542																																					p.H2000Q													.	MUC6	408		0			c.C6000G												1371.0	1357.0	1362.0					11																	1016801		2203	4297	6500	SO:0001583	missense	4588	exon31			CTGAGGGTGTGAT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6000C>G	11.37:g.1016801G>C	ENSP00000406861:p.His2000Gln		Somatic	386	0.0155440415	6		WXS	Illumina HiSeq	Phase_1	322	0.03	11	NM_005961	1	0.00	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524518	0.13066	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.76	-5.51	0.02568	.	.	.	.	.	T	0.10337	0.0253	L	0.50333	1.59	0.09310	N	1	B	0.27625	0.183	B	0.21708	0.036	T	0.29610	-1.0006	9	0.27082	T	0.32	.	1.062	0.01603	0.2629:0.2888:0.3017:0.1467	.	2000	Q6W4X9	MUC6_HUMAN	Q	2000	ENSP00000406861:H2000Q	ENSP00000406861:H2000Q	H	-	3	2	MUC6	1006801	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.904000	0.04080	-1.588000	0.01627	0.306000	0.20318	CAC			0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540	
ASRGL1	80150	broad.mit.edu	37	11	62105556	62105556	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:62105556G>A	ENST00000415229.2	+	2	322	c.107G>A	c.(106-108)gGc>gAc	p.G36D	ASRGL1_ENST00000535727.1_5'UTR|RP11-703H8.7_ENST00000400902.4_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.G36D	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	36					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GTGGGCTACGGCATCCTCCGG	0.657																																					p.G36D													.	ASRGL1	25		0			c.G107A												31.0	30.0	30.0					11																	62105556		2202	4297	6499	SO:0001583	missense	80150	exon2			GCTACGGCATCCT		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.107G>A	11.37:g.62105556G>A	ENSP00000400057:p.Gly36Asp		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	73	0.05	4	NM_001083926	142	0.00	0	B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	g	6.368	0.435924	0.12104	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.86497	-2.13;-2.13	4.36	-0.712	0.11226	.	1.561570	0.03313	N	0.190726	T	0.68081	0.2962	N	0.02960	-0.455	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.60094	-0.7330	10	0.15066	T	0.55	-1.3504	3.9942	0.09551	0.468:0.1922:0.3399:0.0	.	36	Q7L266	ASGL1_HUMAN	D	36	ENSP00000400057:G36D;ENSP00000301776:G36D	ENSP00000301776:G36D	G	+	2	0	ASRGL1	61862132	0.000000	0.05858	0.534000	0.28014	0.028000	0.11728	-0.452000	0.06787	-0.036000	0.13669	-0.378000	0.06908	GGC			0.657	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394865.1		NM_001083926	
MTA2	9219	bcgsc.ca	37	11	62365527	62365527	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:62365527G>A	ENST00000278823.2	-	6	848	c.459C>T	c.(457-459)taC>taT	p.Y153Y	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	153	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCTCAGCTTGGTATTTGCAAC	0.478																																					p.Y153Y													.	MTA2	54		0			c.C459T												160.0	154.0	157.0					11																	62365527		2202	4299	6501	SO:0001819	synonymous_variant	9219	exon6			AGCTTGGTATTTG	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.459C>T	11.37:g.62365527G>A			Somatic	128	0	0		WXS	Illumina HiSeq	Phase_1	117	0.00	0	NM_004739	31	0.00	0	Q68DB1|Q9UQB5	Silent	SNP	ENST00000278823.2	37	CCDS8022.1																																																																																					0.478	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395578.1		NM_004739	
MAP4K2	5871	bcgsc.ca	37	11	64566925	64566925	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:64566925G>C	ENST00000294066.2	-	14	1112	c.1021C>G	c.(1021-1023)Cgc>Ggc	p.R341G	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R341G|MAP4K2_ENST00000468062.1_5'Flank	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	341					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TCCTTCCTGCGTGGGGCGCCA	0.602																																					p.R341G													.	MAP4K2	83		0			c.C1021G												84.0	78.0	80.0					11																	64566925		2201	4297	6498	SO:0001583	missense	5871	exon14			TCCTGCGTGGGGC	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1021C>G	11.37:g.64566925G>C	ENSP00000294066:p.Arg341Gly		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_1	107	0.00	0	NM_004579	29	0.00	0	Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209116	0.58343	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	T;T;T	0.13538	2.58;2.58;2.58	5.14	4.18	0.49190	.	0.576714	0.14525	N	0.314219	T	0.13798	0.0334	N	0.14661	0.345	0.34766	D	0.733267	D;D	0.59357	0.985;0.985	P;P	0.54759	0.677;0.76	T	0.10177	-1.0641	10	0.19147	T	0.46	.	11.6092	0.51049	0.0:0.0:0.8226:0.1774	.	341;341	Q86VU3;Q12851	.;M4K2_HUMAN	G	341;341;297	ENSP00000294066:R341G;ENSP00000366567:R341G;ENSP00000403563:R297G	ENSP00000294066:R341G	R	-	1	0	MAP4K2	64323501	0.989000	0.36119	0.994000	0.49952	0.971000	0.66376	2.103000	0.41806	2.582000	0.87167	0.558000	0.71614	CGC			0.602	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000105239.1		NM_004579	
PPP1CA	5499	broad.mit.edu	37	11	67168607	67168607	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:67168607A>G	ENST00000376745.4	-	2	267	c.119T>C	c.(118-120)cTg>cCg	p.L40P	TBC1D10C_ENST00000526387.1_5'Flank|TBC1D10C_ENST00000312390.5_5'Flank|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.L51P|PPP1CA_ENST00000358239.4_Intron	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	40					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCGGGATTTCAGGCACAGACC	0.627																																					p.L51P													.	PPP1CA	83		0			c.T152C												63.0	71.0	68.0					11																	67168607		2200	4295	6495	SO:0001583	missense	5499	exon2			GATTTCAGGCACA		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.119T>C	11.37:g.67168607A>G	ENSP00000365936:p.Leu40Pro		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	84	0.05	4	NM_001008709	456	0.00	0	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515976	0.44763	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000527663;ENST00000546202;ENST00000542876	T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36	4.93	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000001	T	0.19525	0.0469	M	0.94021	3.485	0.80722	D	1	P;P;B;P;P	0.47302	0.893;0.893;0.452;0.678;0.667	B;B;B;B;B	0.43889	0.435;0.435;0.338;0.338;0.368	T	0.18272	-1.0342	10	0.72032	D	0.01	.	13.8889	0.63726	1.0:0.0:0.0:0.0	.	137;137;40;51;49	B3KXM2;E9PDP1;P62136;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.	P	51;137;40;40;125;137	ENSP00000326031:L51P;ENSP00000365936:L40P;ENSP00000431146:L40P;ENSP00000439568:L125P;ENSP00000438409:L137P	ENSP00000326031:L51P	L	-	2	0	PPP1CA	66925183	1.000000	0.71417	0.729000	0.30791	0.019000	0.09904	9.205000	0.95048	1.985000	0.57927	0.460000	0.39030	CTG			0.627	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395487.1		NM_002708	
TAS2R8	50836	bcgsc.ca	37	12	10959286	10959286	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:10959286C>G	ENST00000240615.2	-	1	606	c.294G>C	c.(292-294)tgG>tgC	p.W98C		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	98					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGTGGTAATCCACATATTTA	0.363																																					p.W98C													.	TAS2R8	42		0			c.G294C												93.0	92.0	92.0					12																	10959286		2203	4300	6503	SO:0001583	missense	50836	exon1			GGTAATCCACATA	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.294G>C	12.37:g.10959286C>G	ENSP00000240615:p.Trp98Cys		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_1	180	0.00	0	NM_023918	0		0	Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517577	0.13005	.	.	ENSG00000121314	ENST00000240615	T	0.07216	3.21	4.79	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000027	T	0.22126	0.0533	M	0.76838	2.35	0.09310	N	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.04509	-1.0946	10	0.87932	D	0	.	4.0015	0.09582	0.2099:0.5603:0.1407:0.0891	.	98	Q9NYW2	TA2R8_HUMAN	C	98	ENSP00000240615:W98C	ENSP00000240615:W98C	W	-	3	0	TAS2R8	10850553	0.002000	0.14202	0.001000	0.08648	0.014000	0.08584	0.901000	0.28445	0.266000	0.21894	0.563000	0.77884	TGG			0.363	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399932.1			
ABCC9	10060	bcgsc.ca	37	12	22061069	22061069	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:22061069A>G	ENST00000261201.4	-	9	1396	c.1397T>C	c.(1396-1398)cTt>cCt	p.L466P	ABCC9_ENST00000261200.4_Missense_Mutation_p.L466P|ABCC9_ENST00000345162.2_Missense_Mutation_p.L466P	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	466	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AATTGGCGCAAGGAGCACAAT	0.378																																					p.L466P													.	ABCC9	411		0			c.T1397C												73.0	63.0	66.0					12																	22061069		2203	4299	6502	SO:0001583	missense	10060	exon9			GGCGCAAGGAGCA	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1397T>C	12.37:g.22061069A>G	ENSP00000261201:p.Leu466Pro		Somatic	303	0.00330033	1		WXS	Illumina HiSeq	Phase_1	404	0.00	0	NM_005691	1	0.00	0	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326391	0.81690	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	M	0.93106	3.38	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.70227	0.968;0.726	D	0.97764	1.0222	10	0.87932	D	0	-13.9217	15.4016	0.74845	1.0:0.0:0.0:0.0	.	466;466	O60706;O60706-2	ABCC9_HUMAN;.	P	466;129;466;466	ENSP00000261200:L466P;ENSP00000440521:L129P;ENSP00000261201:L466P;ENSP00000261202:L466P	ENSP00000261200:L466P	L	-	2	0	ABCC9	21952336	1.000000	0.71417	0.748000	0.31131	0.990000	0.78478	9.005000	0.93587	2.222000	0.72286	0.533000	0.62120	CTT			0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000402230.1		NM_005691	
FAM101A	144347	broad.mit.edu	37	12	124798964	124798964	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:124798964A>C	ENST00000389727.3	+	3	544	c.544A>C	c.(544-546)Acc>Ccc	p.T182P	FAM101A_ENST00000324038.3_Missense_Mutation_p.T101P|FAM101A_ENST00000338359.4_Missense_Mutation_p.T101P|FAM101A_ENST00000546355.1_Missense_Mutation_p.T101P			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	182										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		TTTCCGGACCACCCTGCACTG	0.706																																					p.T101P													.	FAM101A	10		0			c.A301C												50.0	50.0	50.0					12																	124798964		2203	4298	6501	SO:0001583	missense	144347	exon3			CGGACCACCCTGC		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.544A>C	12.37:g.124798964A>C	ENSP00000374377:p.Thr182Pro		Somatic	29	0.1034482759	3		WXS	Illumina HiSeq	Phase_I	52	0.25	13	NM_181709	11	0.00	0	A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37		.	.	.	.	.	.	.	.	.	.	A	20.8	4.057866	0.76074	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81986	-0.0681	9	0.72032	D	0.01	-14.0302	14.1628	0.65457	1.0:0.0:0.0:0.0	.	182	Q6ZTI6	F101A_HUMAN	P	101;182;101;101	.	ENSP00000315626:T101P	T	+	1	0	FAM101A	123364917	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	8.744000	0.91596	1.748000	0.51833	0.459000	0.35465	ACC			0.706	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_181709	
RP11-754I20.1	0	broad.mit.edu	37	14	19114215	19114215	+	RNA	DEL	T	T	-	rs142626582		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:19114215delT	ENST00000553170.1	+	0	71																											caagctcaagttgaactgaat	0.353																																					.													.	.			0			.																																											0	.			CTCAAGTTGAACT																													14.37:g.19114215delT			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000553170.1	37																																																																																						0.353	RP11-754I20.1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000408394.1			
L2HGDH	79944	bcgsc.ca	37	14	50713845	50713847	+	In_Frame_Del	DEL	AGG	AGG	-	rs200555267		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:50713845_50713847delAGG	ENST00000267436.4	-	10	1718_1720	c.1321_1323delCCT	c.(1321-1323)cctdel	p.P441del	L2HGDH_ENST00000261699.4_Intron|L2HGDH_ENST00000421284.3_In_Frame_Del_p.P441del			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	441					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					AAGTAGCAGCAGGAGAAGGTGCA	0.384																																					p.441_441del													.	L2HGDH	33		0			c.1321_1323del																																									SO:0001651	inframe_deletion	79944	exon10			AGCAGCAGGAGAA		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.1321_1323delCCT	14.37:g.50713845_50713847delAGG	ENSP00000267436:p.Pro441del		Somatic	228	0	0		WXS	Illumina HiSeq	Phase_1	164	0.00	0	NM_024884	9	0.00	0	Q9BRR1	In_Frame_Del	DEL	ENST00000267436.4	37	CCDS9698.1																																																																																					0.384	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276870.2		NM_024884	
SERPINA10	51156	bcgsc.ca	37	14	94756510	94756510	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:94756510G>A	ENST00000393096.1	-	2	886	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	SERPINA10_ENST00000554173.1_Silent_p.L141L|SERPINA10_ENST00000261994.4_Silent_p.L141L|SERPINA10_ENST00000554723.1_Silent_p.L181L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	141	Heparin-binding.				blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGGGAAGGCAGGAGCCCGGGC	0.592																																					p.L141L													.	SERPINA10	83		0			c.C421T												49.0	55.0	53.0					14																	94756510		2203	4300	6503	SO:0001819	synonymous_variant	51156	exon2			AAGGCAGGAGCCC	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.421C>T	14.37:g.94756510G>A			Somatic	135	0	0		WXS	Illumina HiSeq	Phase_1	145	0.00	0	NM_001100607	1	0.00	0	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	CCDS9923.1																																																																																					0.592	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413061.1		NM_016186	
CEP170B	283638	hgsc.bcm.edu;broad.mit.edu	37	14	105352457	105352457	+	Silent	SNP	G	G	A	rs372643760		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:105352457G>A	ENST00000414716.3	+	11	2253	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P	CEP170B_ENST00000418279.1_Silent_p.P605P|CEP170B_ENST00000453495.1_Silent_p.P676P|CEP170B_ENST00000556508.1_Silent_p.P605P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	675						cytoplasm (GO:0005737)|microtubule (GO:0005874)											ACTCAGACCCGGGCCTCACAG	0.711																																					p.P675P													.	.			0			c.G2025A							G	,	1,3679		0,1,1839	15.0	21.0	19.0		2025,1815	-9.0	0.0	14		19	0,7900		0,0,3950	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	0,1,5789	AA,AG,GG		0.0,0.0272,0.0086	,	675/1555,605/1520	105352457	1,11579	1840	3950	5790	SO:0001819	synonymous_variant	283638	exon11			AGACCCGGGCCTC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2025G>A	14.37:g.105352457G>A			Somatic	21	0	0		WXS	Illumina HiSeq	.	34	0.15	5	NM_001112726	0		0	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																					0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000410289.2		NM_001112726	
AHNAK2	113146	bcgsc.ca	37	14	105416870	105416870	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:105416870G>T	ENST00000333244.5	-	7	5037	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCCCTCCAGCTGCGCACCA	0.602																																					p.L1640M													AHNAK2_ENST00000333244,NS,carcinoma,+2,1	AHNAK2	719	1	0			c.C4918A												150.0	169.0	163.0					14																	105416870		1919	4080	5999	SO:0001583	missense	113146	exon7			CCTCCAGCTGCGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4918C>A	14.37:g.105416870G>T	ENSP00000353114:p.Leu1640Met		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_1	230	0.00	0	NM_138420	0		0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.721908	0.30503	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	3.43	-6.86	0.01676	.	.	.	.	.	T	0.02767	0.0083	M	0.66506	2.035	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.02837	-1.1104	9	0.52906	T	0.07	.	6.0697	0.19883	0.0984:0.5504:0.2407:0.1105	.	1640	Q8IVF2	AHNK2_HUMAN	M	1640	ENSP00000353114:L1640M	ENSP00000353114:L1640M	L	-	1	2	AHNAK2	104487915	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	-0.319000	0.08039	-0.941000	0.03700	0.306000	0.20318	CTG			0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420	
DISP2	85455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	40656718	40656718	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:40656718G>A	ENST00000267889.3	+	4	663	c.576G>A	c.(574-576)cgG>cgA	p.R192R		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	192					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGGGGCCCGGCTGCCCGACT	0.637																																					p.R192R													.	.			0			c.G576A												59.0	62.0	61.0					15																	40656718		2203	4300	6503	SO:0001819	synonymous_variant	85455	exon4			GGCCCGGCTGCCC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.576G>A	15.37:g.40656718G>A			Somatic	54	0	0		WXS	Illumina HiSeq	.	73	0.48	35	NM_033510	1	1.00	1	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																					0.637	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510	
EIF3J	8669	hgsc.bcm.edu	37	15	44829418	44829418	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:44829418G>C	ENST00000535391.1	+	1	38	c.26G>C	c.(25-27)gGg>gCg	p.G9A	EIF3J_ENST00000424492.3_Missense_Mutation_p.G9A|EIF3J_ENST00000261868.5_Missense_Mutation_p.G9A|EIF3J-AS1_ENST00000313807.4_lincRNA					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		gcggcggcggGGGACTCGGAC	0.706																																					p.G9A													.	.			0			c.G26C												6.0	8.0	7.0					15																	44829418		2005	4074	6079	SO:0001583	missense	8669	exon1			CGGCGGGGGACTC	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.26G>C	15.37:g.44829418G>C	ENSP00000440221:p.Gly9Ala		Somatic	197	0	0		WXS	Illumina HiSeq	.	396	0.19	76	NM_003758	2	0.00	0		Missense_Mutation	SNP	ENST00000535391.1	37		.	.	.	.	.	.	.	.	.	.	G	0.026	-1.373523	0.01214	.	.	ENSG00000104131	ENST00000261868;ENST00000535391;ENST00000424492	T;T	0.41065	1.12;1.01	4.36	3.43	0.39272	.	0.161948	0.37577	N	0.002034	T	0.16385	0.0394	N	0.08118	0	0.24101	N	0.995874	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.001;0.002;0.003	T	0.29912	-0.9996	10	0.02654	T	1	.	6.198	0.20559	0.1014:0.1922:0.7064:0.0	.	9;9;9	B4DUI3;F5H425;O75822	.;.;EIF3J_HUMAN	A	9	ENSP00000261868:G9A;ENSP00000414548:G9A	ENSP00000261868:G9A	G	+	2	0	EIF3J	42616710	1.000000	0.71417	0.999000	0.59377	0.002000	0.02628	2.612000	0.46343	1.180000	0.42898	-0.188000	0.12872	GGG			0.706	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000396804.1		NM_003758	
MYEF2	50804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	48450208	48450208	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:48450208T>C	ENST00000324324.7	-	9	1246	c.967A>G	c.(967-969)Aaa>Gaa	p.K323E	MYEF2_ENST00000267836.6_Missense_Mutation_p.K323E|MYEF2_ENST00000557868.1_5'UTR	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	323					myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGTGGTGTTTTACCATCATGT	0.323																																					p.K323E													.	.			0			c.A967G												151.0	139.0	143.0					15																	48450208		2198	4297	6495	SO:0001583	missense	50804	exon9			GTGTTTTACCATC	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.967A>G	15.37:g.48450208T>C	ENSP00000316950:p.Lys323Glu		Somatic	176	0	0		WXS	Illumina HiSeq	.	129	0.22	28	NM_016132	1	0.00	0	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	t	28.6	4.935391	0.92458	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.21543	2.61;2.0	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.59436	1.845	0.80722	D	1	D;D	0.59357	0.981;0.985	P;P	0.57911	0.829;0.767	T	0.04140	-1.0974	10	0.33940	T	0.23	-13.2293	15.9509	0.79835	0.0:0.0:0.0:1.0	.	323;323	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	323	ENSP00000316950:K323E;ENSP00000267836:K323E	ENSP00000267836:K323E	K	-	1	0	MYEF2	46237500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.168000	0.68352	0.478000	0.44815	AAA			0.323	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000416909.2		NM_016132	
USP8	9101	hgsc.bcm.edu	37	15	50782530	50782530	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:50782530C>T	ENST00000396444.3	+	14	2380	c.2042C>T	c.(2041-2043)cCg>cTg	p.P681L	USP8_ENST00000425032.3_Missense_Mutation_p.P575L|USP8_ENST00000433963.1_Missense_Mutation_p.P681L|USP8_ENST00000307179.4_Missense_Mutation_p.P681L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	681					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATGTACCCACCGGAAATGGCT	0.453																																					p.P681L													.	.			0			c.C2042T												149.0	140.0	143.0					15																	50782530		2196	4294	6490	SO:0001583	missense	9101	exon14			ACCCACCGGAAAT	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2042C>T	15.37:g.50782530C>T	ENSP00000379721:p.Pro681Leu		Somatic	172	0	0		WXS	Illumina HiSeq	.	154	0.05	7	NM_001128610	18	0.00	0	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355300	0.95854	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19938	2.11;2.11;2.11;2.16	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.858	T	0.06770	-1.0808	10	0.54805	T	0.06	-10.3157	19.9929	0.97374	0.0:1.0:0.0:0.0	.	575;681	B4DKA8;P40818	.;UBP8_HUMAN	L	681;681;681;575	ENSP00000379721:P681L;ENSP00000405537:P681L;ENSP00000302239:P681L;ENSP00000412682:P575L	ENSP00000302239:P681L	P	+	2	0	USP8	48569822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.249000	0.78278	2.794000	0.96219	0.655000	0.94253	CCG			0.453	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254541.1		NM_005154	
ZNF592	9640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	85326876	85326876	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:85326876A>C	ENST00000560079.2	+	4	1258	c.970A>C	c.(970-972)Aaa>Caa	p.K324Q	ZNF592_ENST00000299927.3_Missense_Mutation_p.K324Q	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	324					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGTAGCCCCAAAATGCCCAA	0.537																																					p.K324Q													.	.			0			c.A970C												73.0	84.0	80.0					15																	85326876		2203	4299	6502	SO:0001583	missense	9640	exon4			AGCCCCAAAATGC	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.970A>C	15.37:g.85326876A>C	ENSP00000452877:p.Lys324Gln		Somatic	146	0	0		WXS	Illumina HiSeq	.	117	0.21	25	NM_014630	12	0.17	2	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058139	0.55325	.	.	ENSG00000166716	ENST00000299927	T	0.00635	6.06	5.65	4.54	0.55810	.	0.230123	0.52532	D	0.000072	T	0.01454	0.0047	L	0.29908	0.895	0.40134	D	0.97675	D	0.76494	0.999	D	0.68943	0.961	T	0.73161	-0.4070	10	0.54805	T	0.06	-10.0498	9.1268	0.36821	0.9148:0.0:0.0852:0.0	.	324	Q92610	ZN592_HUMAN	Q	324	ENSP00000299927:K324Q	ENSP00000299927:K324Q	K	+	1	0	ZNF592	83127880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.008000	0.63991	2.152000	0.67230	0.533000	0.62120	AAA			0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630	
ZNF592	9640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	85327404	85327404	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:85327404C>A	ENST00000560079.2	+	4	1786	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	ZNF592_ENST00000299927.3_Missense_Mutation_p.P500T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	500					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAACCTCCTGCCCAAAGCCGT	0.627																																					p.P500T													.	.			0			c.C1498A												58.0	43.0	48.0					15																	85327404		2203	4299	6502	SO:0001583	missense	9640	exon4			CTCCTGCCCAAAG	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1498C>A	15.37:g.85327404C>A	ENSP00000452877:p.Pro500Thr		Somatic	68	0	0		WXS	Illumina HiSeq	.	69	0.17	12	NM_014630	25	0.52	13	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858985	0.51376	.	.	ENSG00000166716	ENST00000299927	T	0.01145	5.27	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.03220	0.0094	N	0.19112	0.55	0.51233	D	0.999919	D	0.89917	1.0	D	0.81914	0.995	T	0.65721	-0.6099	10	0.59425	D	0.04	-24.6572	16.5914	0.84766	0.0:1.0:0.0:0.0	.	500	Q92610	ZN592_HUMAN	T	500	ENSP00000299927:P500T	ENSP00000299927:P500T	P	+	1	0	ZNF592	83128408	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.346000	0.79347	2.495000	0.84180	0.655000	0.94253	CCC			0.627	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630	
NMRAL1	57407	bcgsc.ca	37	16	4519318	4519318	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:4519318G>A	ENST00000574733.1	-	3	918	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000574425.1_Silent_p.V63V|NMRAL1_ENST00000283429.6_Silent_p.V63V|NMRAL1_ENST00000404295.3_Silent_p.V63V			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	63						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GCTCCATGATGACCTGGTCAT	0.572																																					p.V63V													.	NMRAL1	31		0			c.C189T												285.0	211.0	236.0					16																	4519318		2197	4300	6497	SO:0001819	synonymous_variant	57407	exon3			CATGATGACCTGG	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.189C>T	16.37:g.4519318G>A			Somatic	55	0	0		WXS	Illumina HiSeq	Phase_1	59	0.00	0	NM_020677	22	0.00	0		Silent	SNP	ENST00000574733.1	37	CCDS10516.1																																																																																					0.572	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438579.1		NM_020677	
Unknown	0	bcgsc.ca	37	16	32403532	32403532	+	IGR	SNP	T	T	A	rs75037542		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:32403532T>A								RP11-17M15.2 (81656 upstream) : RP11-626K17.3 (62400 downstream)																							TTTTTTCTTATGAAAATATTC	0.299																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TTCTTATGAAAAT																													16.37:g.32403532T>A			Somatic	90	0.0888888889	8		WXS	Illumina HiSeq	Phase_1	68	0.19	13	.	0		0		RNA	SNP		37																																																																																					0	0.299										
SLC12A3	6559	bcgsc.ca	37	16	56913028	56913028	+	Silent	SNP	A	A	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:56913028A>T	ENST00000563236.1	+	10	1249	c.1224A>T	c.(1222-1224)acA>acT	p.T408T	SLC12A3_ENST00000438926.2_Silent_p.T408T|SLC12A3_ENST00000262502.5_Silent_p.T407T|SLC12A3_ENST00000566786.1_Silent_p.T407T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	408					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGAATGACACAGTGACCCCTG	0.627																																					p.T408T													.	SLC12A3	99		0			c.A1224T												36.0	36.0	36.0					16																	56913028		2198	4300	6498	SO:0001819	synonymous_variant	6559	exon10			TGACACAGTGACC		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1224A>T	16.37:g.56913028A>T			Somatic	74	0	0		WXS	Illumina HiSeq	Phase_1	77	0.00	0	NM_001126108	1	0.00	0	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																					0.627	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000432337.1			
HSF4	3299	hgsc.bcm.edu;broad.mit.edu	37	16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:67203680T>C	ENST00000521374.1	+	13	1471	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P|HSF4_ENST00000264009.8_Missense_Mutation_p.S491P|HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S491P													.	.			0			c.T1471C												39.0	45.0	43.0					16																	67203680		1849	4065	5914	SO:0001583	missense	3299	exon15			AGTCCCTCCCCCT	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1471T>C	16.37:g.67203680T>C	ENSP00000430947:p.Ser491Pro		Somatic	41	0	0	1097	WXS	Illumina HiSeq	.	53	0.11	6	NM_001040667	5	0.00	0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.48|15.48	2.846491|2.846491	0.51164|0.51164	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.45|3.45	0.39498|0.39498	.|.	.|0.435053	.|0.19894	.|N	.|0.103661	T|T	0.40040|0.40040	0.1101|0.1101	N|N	0.24115|0.24115	0.695|0.695	0.26638|0.26638	N|N	0.97234|0.97234	.|D;P	.|0.76494	.|0.999;0.895	.|D;B	.|0.68943	.|0.961;0.38	T|T	0.08848|0.08848	-1.0702|-1.0702	5|9	.|0.72032	.|D	.|0.01	-12.8056|-12.8056	7.8381|7.8381	0.29382|0.29382	0.0:0.0:0.2114:0.7886|0.0:0.0:0.2114:0.7886	.|.	.|461;491	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	P|P	222;134|461;491;415;491	.|.	.|ENSP00000264009:S491P	L|S	+|+	2|1	0|0	HSF4|HSF4	65761181|65761181	0.215000|0.215000	0.23574|0.23574	0.982000|0.982000	0.44146|0.44146	0.184000|0.184000	0.23303|0.23303	1.280000|1.280000	0.33202|0.33202	2.063000|2.063000	0.61619|0.61619	0.460000|0.460000	0.39030|0.39030	CTC|TCC			0.662	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375080.1		NM_001538	
DPH1	1801	broad.mit.edu	37	17	1939269	1939269	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:1939269C>T	ENST00000263083.6	+	4	344	c.299C>T	c.(298-300)aCg>aTg	p.T100M	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.T20M	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	100					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CGCAGGTTCACGGAGGCCGAA	0.637																																					p.T100M													.	DPH1	32		0			c.C299T												102.0	111.0	108.0					17																	1939269		2095	4206	6301	SO:0001583	missense	1801	exon4			GGTTCACGGAGGC	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.299C>T	17.37:g.1939269C>T	ENSP00000263083:p.Thr100Met		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	85	0.04	3	NM_001383	42	0.00	0	D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270747	0.59540	.	.	ENSG00000108963	ENST00000263083	T	0.46063	0.88	4.73	4.73	0.59995	.	0.118405	0.56097	D	0.000025	T	0.68742	0.3034	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.72625	0.967;0.967;0.978	T	0.74982	-0.3478	10	0.62326	D	0.03	-7.8869	16.4794	0.84153	0.0:1.0:0.0:0.0	.	110;110;100	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	M	100	ENSP00000263083:T100M	ENSP00000263083:T100M	T	+	2	0	DPH1	1886019	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	7.489000	0.81451	2.456000	0.83038	0.462000	0.41574	ACG			0.637	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438660.1		NM_001383	
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10309436	10309436	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:10309436G>A	ENST00000403437.2	-	21	2448	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	785	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TATAATTTGGGCTAATTTTTC	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.A785V													MYH8,NS,carcinoma,+1,1	MYH8	1	1	0			c.C2354T												159.0	150.0	153.0					17																	10309436		2203	4300	6503	SO:0001583	missense	4626	exon21	Familial Cancer Database	Carney Complex Variant	ATTTGGGCTAATT		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2354C>T	17.37:g.10309436G>A	ENSP00000384330:p.Ala785Val		Somatic	89	0	0		WXS	Illumina HiSeq	.	65	0.23	15	NM_002472	0		0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579937	0.65992	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.92965	-3.14	5.22	5.22	0.72569	.	0.172230	0.27076	U	0.021052	D	0.88948	0.6576	L	0.38531	1.155	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	D	0.84080	0.0384	10	0.46703	T	0.11	.	18.9728	0.92722	0.0:0.0:1.0:0.0	.	785	P13535	MYH8_HUMAN	V	785	ENSP00000384330:A785V	ENSP00000252173:A785V	A	-	2	0	MYH8	10250161	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.486000	0.66856	2.732000	0.93576	0.650000	0.86243	GCC			0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252724.2		NM_002472	
GPATCH8	23131	bcgsc.ca	37	17	42513867	42513867	+	Silent	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:42513867G>T	ENST00000591680.1	-	4	270	c.240C>A	c.(238-240)ggC>ggA	p.G80G	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_Silent_p.G2G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	80	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCGACCCATGCCCATGACAT	0.383																																					p.G80G													.	GPATCH8	114		0			c.C240A												142.0	118.0	126.0					17																	42513867		2203	4300	6503	SO:0001819	synonymous_variant	23131	exon4			ACCCATGCCCATG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.240C>A	17.37:g.42513867G>T			Somatic	65	0	0		WXS	Illumina HiSeq	Phase_1	54	0.00	0	NM_001002909	0		0	B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	CCDS32666.1																																																																																					0.383	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457797.1		NM_001002909	
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:46622130_46622132delAGG	ENST00000330070.4	-	1	1309_1311	c.142_144delCCT	c.(142-144)cctdel	p.P48del	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	48					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596																																					p.48_48del													.	HOXB2	23		0			c.142_144del																																									SO:0001651	inframe_deletion	3212	exon1			CTCGAAAGGAGGA		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.142_144delCCT	17.37:g.46622139_46622141delAGG	ENSP00000331741:p.Pro48del		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	95	0.07	7	NM_002145	21	0.00	0	P10913|P17485	In_Frame_Del	DEL	ENST00000330070.4	37	CCDS11527.1																																																																																					0.596	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358384.2			
USP36	57602	bcgsc.ca	37	17	76810500	76810500	+	Silent	SNP	G	G	A	rs139221124	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:76810500G>A	ENST00000542802.3	-	11	1601	c.1158C>T	c.(1156-1158)taC>taT	p.Y386Y	USP36_ENST00000449938.2_Silent_p.Y86Y|USP36_ENST00000312010.6_Silent_p.Y386Y|USP36_ENST00000588467.1_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	386	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCACCTTCACGTAGCAGTAAT	0.532													G|||	7	0.00139776	0.0038	0.0014	5008	,	,		20495	0.0		0.0	False		,,,				2504	0.001				p.Y386Y													.	USP36	243		0			c.C1158T							G		29,4377	35.2+/-66.4	0,29,2174	84.0	64.0	71.0		1158	-1.9	1.0	17	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	USP36	NM_025090.3		0,29,6474	AA,AG,GG		0.0,0.6582,0.223		386/1124	76810500	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	57602	exon11			CTTCACGTAGCAG	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1158C>T	17.37:g.76810500G>A			Somatic	39	0	0		WXS	Illumina HiSeq	Phase_1	31	0.00	0	NM_025090	30	0.00	0	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																					0.532	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437472.3		NM_025090	
FEM1A	55527	broad.mit.edu	37	19	4793691	4793691	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:4793691G>T	ENST00000269856.3	+	1	1964	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S	AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	609					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCACATGGACGCCACCAATGC	0.587																																					p.A609S													.	FEM1A	41		0			c.G1825T												61.0	54.0	56.0					19																	4793691		2203	4300	6503	SO:0001583	missense	55527	exon1			ATGGACGCCACCA	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1825G>T	19.37:g.4793691G>T	ENSP00000269856:p.Ala609Ser		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	30	0.10	3	NM_018708	15	0.00	0	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	7.778	0.708938	0.15239	.	.	ENSG00000141965	ENST00000269856	T	0.66460	-0.21	4.92	3.89	0.44902	Ankyrin repeat-containing domain (4);	0.070642	0.56097	U	0.000027	T	0.54822	0.1882	L	0.48935	1.535	0.45161	D	0.998179	B	0.32693	0.38	B	0.34991	0.193	T	0.44065	-0.9352	10	0.14656	T	0.56	-15.4201	8.1742	0.31272	0.0801:0.0:0.764:0.1559	.	609	Q9BSK4	FEM1A_HUMAN	S	609	ENSP00000269856:A609S	ENSP00000269856:A609S	A	+	1	0	FEM1A	4744691	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	4.636000	0.61339	1.055000	0.40461	0.491000	0.48974	GCC			0.587	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459000.1			
ANKLE1	126549	broad.mit.edu	37	19	17397500	17397501	+	3'UTR	DEL	TT	TT	-	rs71180380|rs563327402|rs534658778|rs1465582	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:17397500_17397501delTT	ENST00000394458.3	+	0	2263_2264				ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.L591fs|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000404085.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtttgtgtgtgtg	0.53																																					.													.	ANKLE1	27		0			.																																									SO:0001624	3_prime_UTR_variant	126549	.			TGTGTGTTTGTGT	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*140TT>-	19.37:g.17397500_17397501delTT			Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	13	0.62	8	.	8	0.00	0	A8VU82|Q8N8J8	Frame_Shift_Del	DEL	ENST00000394458.3	37	CCDS12354.2																																																																																					0.530	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325392.2		NM_152363	
CTC-559E9.6	0	broad.mit.edu	37	19	19944580	19944580	+	RNA	DEL	T	T	-	rs372322378		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:19944580delT	ENST00000591884.1	+	0	520																											ATGTTTAATCttttttttttt	0.378																																					.													.	.			0			.																																											0	.			TTAATCTTTTTTT																													19.37:g.19944580delT			Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	7	0.29	2	.	0		0		RNA	DEL	ENST00000591884.1	37																																																																																						0.378	CTC-559E9.6-003	KNOWN	basic	antisense	processed_transcript		OTTHUMT00000460786.1			
LYPD4	147719	bcgsc.ca	37	19	42342975	42342975	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:42342975G>T	ENST00000330743.3	-	3	1402	c.191C>A	c.(190-192)aCg>aAg	p.T64K	LYPD4_ENST00000343055.4_Intron|LYPD4_ENST00000601246.1_Intron|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	64						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GAACACTAGCGTCTCCTCGCA	0.502																																					p.T64K													.	LYPD4	30		0			c.C191A												159.0	145.0	150.0					19																	42342975		2203	4300	6503	SO:0001583	missense	147719	exon3			ACTAGCGTCTCCT	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.191C>A	19.37:g.42342975G>T	ENSP00000328737:p.Thr64Lys		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_1	46	0.00	0	NM_173506	0		0	Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266882	0.59540	.	.	ENSG00000183103	ENST00000330743	T	0.08984	3.03	3.97	2.93	0.34026	.	0.145147	0.32161	N	0.006483	T	0.24084	0.0583	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.01195	-1.1422	10	0.72032	D	0.01	-6.9186	7.4473	0.27219	0.1177:0.0:0.8823:0.0	.	64	Q6UWN0	LYPD4_HUMAN	K	64	ENSP00000328737:T64K	ENSP00000328737:T64K	T	-	2	0	LYPD4	47034815	0.985000	0.35326	0.850000	0.33497	0.853000	0.48598	2.330000	0.43885	1.252000	0.44001	0.551000	0.68910	ACG			0.502	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463039.1		NM_173506	
SYMPK	8189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	46345588	46345588	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:46345588G>C	ENST00000245934.7	-	9	1251	c.1007C>G	c.(1006-1008)gCc>gGc	p.A336G		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	336					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CATGTTGCGGGCGATCTCGGC	0.637																																					p.A336G													.	.			0			c.C1007G												73.0	67.0	69.0					19																	46345588		2203	4300	6503	SO:0001583	missense	8189	exon9			TTGCGGGCGATCT	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1007C>G	19.37:g.46345588G>C	ENSP00000245934:p.Ala336Gly		Somatic	90	0	0		WXS	Illumina HiSeq	.	64	0.30	19	NM_004819	76	0.46	35	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678921	0.47886	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.17	6.17	0.99709	Armadillo-type fold (1);	0.159237	0.56097	D	0.000029	T	0.40067	0.1102	N	0.08118	0	0.41184	D	0.98625	B;B	0.18863	0.002;0.031	B;B	0.20767	0.002;0.031	T	0.26710	-1.0095	9	0.18276	T	0.48	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	351;336	Q4LE61;Q92797	.;SYMPK_HUMAN	G	336	.	ENSP00000245934:A336G	A	-	2	0	SYMPK	51037428	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.267000	0.58877	2.941000	0.99782	0.655000	0.94253	GCC			0.637	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819	
IZUMO1	284359	hgsc.bcm.edu;broad.mit.edu	37	19	49248527	49248527	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:49248527T>C	ENST00000332955.2	-	3	801	c.254A>G	c.(253-255)aAg>aGg	p.K85R		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	85					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCAGGACCCCTTTTGCAGTGT	0.483																																					p.K85R													.	.			0			c.A254G												141.0	119.0	126.0					19																	49248527		2203	4300	6503	SO:0001583	missense	284359	exon3			GACCCCTTTTGCA	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.254A>G	19.37:g.49248527T>C	ENSP00000327786:p.Lys85Arg		Somatic	121	0	0		WXS	Illumina HiSeq	.	77	0.05	4	NM_182575	0		0	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066432	0.55539	.	.	ENSG00000182264	ENST00000332955	T	0.23754	1.89	5.1	2.83	0.33086	.	0.543877	0.16686	N	0.203757	T	0.21801	0.0525	L	0.42245	1.32	0.09310	N	1	P	0.50156	0.932	P	0.45856	0.495	T	0.06862	-1.0803	10	0.30854	T	0.27	-25.9036	5.4545	0.16582	0.1747:0.0:0.1821:0.6432	.	85	Q8IYV9	IZUM1_HUMAN	R	85	ENSP00000327786:K85R	ENSP00000327786:K85R	K	-	2	0	IZUMO1	53940339	0.066000	0.20996	0.054000	0.19295	0.288000	0.27193	1.407000	0.34657	0.884000	0.36064	0.402000	0.26972	AAG			0.483	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466189.1		NM_182575	
KIDINS220	57498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	8919088	8919088	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:8919088T>C	ENST00000256707.3	-	19	2733	c.2552A>G	c.(2551-2553)aAt>aGt	p.N851S	KIDINS220_ENST00000427284.1_Missense_Mutation_p.N851S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.N852S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.N809S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.N851S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	851	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTTCTTGCATTGCTTAGTCC	0.408																																					p.N851S													.	.			0			c.A2552G												196.0	180.0	185.0					2																	8919088		1911	4139	6050	SO:0001583	missense	57498	exon19			CTTGCATTGCTTA	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2552A>G	2.37:g.8919088T>C	ENSP00000256707:p.Asn851Ser		Somatic	105	0	0		WXS	Illumina HiSeq	.	78	0.26	20	NM_020738	4	0.00	0	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	5.447	0.267646	0.10294	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.64	-1.62	0.08372	KAP P-loop (1);	0.463344	0.26816	N	0.022358	T	0.15998	0.0385	N	0.16478	0.41	0.30723	N	0.748066	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.001;0.002;0.004	T	0.19128	-1.0315	10	0.22706	T	0.39	.	12.5735	0.56352	0.0:0.5416:0.0:0.4584	.	852;852;809;851	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	S	598;535;851;851;809;851;852;852	ENSP00000420364:N598S;ENSP00000256707:N851S;ENSP00000411849:N851S;ENSP00000414923:N809S;ENSP00000418974:N851S;ENSP00000419964:N852S;ENSP00000319947:N852S	ENSP00000256707:N851S	N	-	2	0	KIDINS220	8836539	0.011000	0.17503	0.702000	0.30337	0.613000	0.37349	0.061000	0.14366	-0.096000	0.12329	0.528000	0.53228	AAT			0.408	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323408.2		NM_020738	
XDH	7498	bcgsc.ca	37	2	31602747	31602747	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:31602747G>A	ENST00000379416.3	-	13	1276	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	410	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTGCTGTAGGGGATCTCTATG	0.527																																					p.P410S	Colon(66;682 1445 30109 40147)												.	XDH	191		0			c.C1228T												117.0	113.0	114.0					2																	31602747		2203	4300	6503	SO:0001583	missense	7498	exon13			TGTAGGGGATCTC	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1228C>T	2.37:g.31602747G>A	ENSP00000368727:p.Pro410Ser		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_1	84	0.00	0	NM_000379	1	0.00	0	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254930	0.95336	.	.	ENSG00000158125	ENST00000379416	D	0.87334	-2.24	6.11	6.11	0.99139	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96968	0.9706	10	0.87932	D	0	.	20.3446	0.98786	0.0:0.0:1.0:0.0	.	410	P47989	XDH_HUMAN	S	410	ENSP00000368727:P410S	ENSP00000368727:P410S	P	-	1	0	XDH	31456251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.271000	0.95698	2.906000	0.99361	0.655000	0.94253	CCC			0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216840.1		NM_000379	
PKDCC	91461	bcgsc.ca	37	2	42275878	42275878	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:42275878G>T	ENST00000294964.5	+	1	719	c.539G>T	c.(538-540)cGc>cTc	p.R180L		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						AGCTGCGTGCGCGAGTTCGGG	0.697																																					p.R180L													.	PKDCC	21		0			c.G539T												7.0	10.0	9.0					2																	42275878		683	1583	2266	SO:0001583	missense	91461	exon1			GCGTGCGCGAGTT		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.539G>T	2.37:g.42275878G>T	ENSP00000294964:p.Arg180Leu		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_1	54	0.00	0	NM_138370	54	0.00	0		Missense_Mutation	SNP	ENST00000294964.5	37	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157496	0.38119	.	.	ENSG00000162878	ENST00000294964	.	.	.	3.49	3.49	0.39957	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.52289	0.1725	L	0.55743	1.74	0.36966	D	0.893578	P	0.47484	0.896	P	0.47015	0.534	T	0.61113	-0.7128	8	0.41790	T	0.15	-6.1909	11.8623	0.52474	0.0:0.1775:0.8225:0.0	.	180	Q504Y2	PKDCC_HUMAN	L	180	.	ENSP00000294964:R180L	R	+	2	0	PKDCC	42129382	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.853000	0.39358	1.782000	0.52362	0.297000	0.19635	CGC			0.697	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325745.3			
MRPS5	64969	bcgsc.ca	37	2	95753180	95753180	+	Silent	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:95753180T>C	ENST00000272418.2	-	12	1423	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	405					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CCCAGTCCAGTTTGACGTCTG	0.567																																					p.K405K													.	MRPS5	52		0			c.A1215G												102.0	93.0	96.0					2																	95753180		2203	4300	6503	SO:0001819	synonymous_variant	64969	exon12			GTCCAGTTTGACG	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1215A>G	2.37:g.95753180T>C			Somatic	113	0	0		WXS	Illumina HiSeq	Phase_1	86	0.00	0	NM_031902	431	0.00	0	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	CCDS2010.1																																																																																					0.567	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252772.1		NM_031902	
KANSL3	55683	bcgsc.ca	37	2	97276835	97276835	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:97276835C>T	ENST00000431828.1	-	10	1203	c.1127G>A	c.(1126-1128)gGg>gAg	p.G376E	KANSL3_ENST00000440133.1_Missense_Mutation_p.G170E|KANSL3_ENST00000441706.2_Missense_Mutation_p.G289E|KANSL3_ENST00000599854.1_Missense_Mutation_p.G289E|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	376					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CAGAGGAAACCCAAGGCAGAC	0.507																																					p.G376E													.	.			0			c.G1127A												144.0	147.0	146.0					2																	97276835		2079	4214	6293	SO:0001583	missense	55683	exon10			GGAAACCCAAGGC	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1127G>A	2.37:g.97276835C>T	ENSP00000396749:p.Gly376Glu		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_1	103	0.00	0	NM_001115016	8	0.00	0	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191360	0.94923	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.23147	1.92;1.92;1.92	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.60388	-0.7273	10	0.87932	D	0	.	17.6117	0.88055	0.0:1.0:0.0:0.0	.	170;376;289;264	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	E	289;264;376;289;170;170;289	ENSP00000396749:G376E;ENSP00000400678:G289E;ENSP00000406207:G170E	ENSP00000346144:G289E	G	-	2	0	KIAA1310	96640562	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.718000	0.84743	2.759000	0.94783	0.557000	0.71058	GGG			0.507	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339040.2		NM_017991	
PLEKHB2	55041	broad.mit.edu	37	2	132110862	132110862	+	Silent	SNP	G	G	C	rs370398581	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:132110862G>C	ENST00000404460.1	+	7	747	c.693G>C	c.(691-693)ccG>ccC	p.P231P	PLEKHB2_ENST00000303908.3_Silent_p.P231P			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	96						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CCACCGCTCCGGCTCTCCCGA	0.726													.|||	3055	0.610024	0.2254	0.8184	5008	,	,		6315	0.6984		0.835	False		,,,				2504	0.6595				.													.	.			0			.												4.0	3.0	4.0					2																	132110862		581	586	1167	SO:0001819	synonymous_variant	55041	.			CGCTCCGGCTCTC		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000404460.1:c.693G>C	2.37:g.132110862G>C			Somatic	39	0.0256410256	1		WXS	Illumina HiSeq	Phase_I	56	0.09	5	.	0		0	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Silent	SNP	ENST00000404460.1	37																																																																																						0.726	PLEKHB2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000318943.2		NM_017958	
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	152484132	152484132	+	Missense_Mutation	SNP	C	C	T	rs377180119		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:152484132C>T	ENST00000172853.10	-	65	9466	c.9319G>A	c.(9319-9321)Gat>Aat	p.D3107N	NEB_ENST00000604864.1_Missense_Mutation_p.D3350N|NEB_ENST00000603639.1_Missense_Mutation_p.D3350N|NEB_ENST00000427231.2_Missense_Mutation_p.D3350N|NEB_ENST00000409198.1_Missense_Mutation_p.D3107N|NEB_ENST00000397345.3_Missense_Mutation_p.D3350N			P20929	NEBU_HUMAN	nebulin	3107					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGTCCACATCGCTGACTAAG	0.537																																					p.D3350N													.	.			0			c.G10048A							C	ASN/ASP,ASN/ASP,ASN/ASP	0,4256		0,0,2128	324.0	319.0	321.0		10048,10048,9319	5.6	0.5	2		321	2,8440		0,2,4219	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	23,23,23	0,2,6347	TT,TC,CC		0.0237,0.0,0.0158	possibly-damaging,possibly-damaging,possibly-damaging	3350/8526,3350/8526,3107/6670	152484132	2,12696	2128	4221	6349	SO:0001583	missense	4703	exon69			CCACATCGCTGAC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9319G>A	2.37:g.152484132C>T	ENSP00000172853:p.Asp3107Asn		Somatic	188	0	0		WXS	Illumina HiSeq	.	171	0.18	31	NM_001271208	0		0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.947621	0.73787	0.0	2.37E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.58	5.58	0.84498	.	0.047750	0.85682	D	0.000000	T	0.48095	0.1481	M	0.73430	2.235	0.80722	D	1	P	0.51791	0.948	B	0.40741	0.339	T	0.55237	-0.8172	10	0.46703	T	0.11	.	19.5796	0.95461	0.0:1.0:0.0:0.0	.	3107	P20929	NEBU_HUMAN	N	3107;3350;3350;3107	ENSP00000386259:D3107N;ENSP00000380505:D3350N;ENSP00000416578:D3350N;ENSP00000172853:D3107N	ENSP00000172853:D3107N	D	-	1	0	NEB	152192378	0.998000	0.40836	0.545000	0.28153	0.274000	0.26718	2.534000	0.45676	2.624000	0.88883	0.655000	0.94253	GAT			0.537	NEB-201	KNOWN	basic	protein_coding	protein_coding				NM_004543	
CRYGB	1419	broad.mit.edu	37	2	209007463	209007463	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:209007463T>C	ENST00000260988.4	-	3	474	c.427A>G	c.(427-429)Agg>Ggg	p.R143G		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	143	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGATACTGCCTCCCCCTGTAG	0.532																																					p.R143G													CRYGB,trunk,malignant_melanoma,+1,1	CRYGB	24	1	0			c.A427G												97.0	97.0	97.0					2																	209007463		2203	4300	6503	SO:0001583	missense	1419	exon3			ACTGCCTCCCCCT		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.427A>G	2.37:g.209007463T>C	ENSP00000260988:p.Arg143Gly		Somatic	200	0.005	1		WXS	Illumina HiSeq	Phase_I	218	0.03	6	NM_005210	3	0.00	0	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086675	0.36855	.	.	ENSG00000182187	ENST00000260988	T	0.79033	-1.23	4.73	-2.91	0.05631	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.087422	0.85682	D	0.000000	D	0.83963	0.5368	H	0.97635	4.045	0.30931	N	0.726935	B	0.22480	0.07	B	0.32533	0.147	T	0.80527	-0.1343	10	0.87932	D	0	.	11.0176	0.47698	0.1151:0.0:0.6542:0.2307	.	143	P07316	CRGB_HUMAN	G	143	ENSP00000260988:R143G	ENSP00000260988:R143G	R	-	1	2	CRYGB	208715708	0.000000	0.05858	0.147000	0.22382	0.993000	0.82548	-0.662000	0.05305	-0.516000	0.06470	0.459000	0.35465	AGG			0.532	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256473.2		NM_005210	
TNS1	7145	bcgsc.ca	37	2	218751314	218751314	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:218751314G>A	ENST00000171887.4	-	11	999	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	TNS1_ENST00000310858.6_Missense_Mutation_p.P214S|TNS1_ENST00000419504.1_Missense_Mutation_p.P183S|TNS1_ENST00000430930.1_Missense_Mutation_p.P183S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	183	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGAAACAAGGGCTTGTTGTTC	0.542											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P183S													.	TNS1	251		0			c.C547T												152.0	129.0	136.0					2																	218751314		2203	4300	6503	SO:0001583	missense	7145	exon11			ACAAGGGCTTGTT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.547C>T	2.37:g.218751314G>A	ENSP00000171887:p.Pro183Ser		Somatic	98	0	0	2253	WXS	Illumina HiSeq	Phase_1	126	0.00	0	NM_022648	6	0.00	0	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232524	0.95207	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.16	5.16	0.70880	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.69823	2.125	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.873;0.977;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	0.999;0.739;0.919;1.0;0.999;0.999	D	0.91301	0.5067	10	0.46703	T	0.11	.	18.835	0.92159	0.0:0.0:1.0:0.0	.	183;237;214;183;183;183	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	S	183;183;183;308;251;214	ENSP00000171887:P183S;ENSP00000408724:P183S;ENSP00000406016:P183S;ENSP00000405460:P308S;ENSP00000400383:P251S;ENSP00000308321:P214S	ENSP00000171887:P183S	P	-	1	0	TNS1	218459559	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.451000	0.73481	2.687000	0.91594	0.596000	0.82720	CCC			0.542	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256672.2		NM_022648	
ALPPL2	251	bcgsc.ca	37	2	233271791	233271791	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:233271791G>C	ENST00000295453.3	+	2	144	c.92G>C	c.(91-93)tGg>tCg	p.W31S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	31					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CCGGACTTCTGGAACCGCCAG	0.632																																					p.W31S													.	ALPPL2	36		0			c.G92C												66.0	81.0	76.0					2																	233271791		2203	4300	6503	SO:0001583	missense	251	exon2			ACTTCTGGAACCG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.92G>C	2.37:g.233271791G>C	ENSP00000295453:p.Trp31Ser		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_1	75	0.00	0	NM_031313	93	0.00	0	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662700	0.29515	.	.	ENSG00000163286	ENST00000295453	D	0.82711	-1.64	2.19	2.19	0.27852	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.131587	0.56097	D	0.000035	D	0.90896	0.7139	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90586	0.4533	10	0.87932	D	0	.	7.7777	0.29048	0.126:0.0:0.874:0.0	.	31	P10696	PPBN_HUMAN	S	31	ENSP00000295453:W31S	ENSP00000295453:W31S	W	+	2	0	ALPPL2	232980035	1.000000	0.71417	0.940000	0.37924	0.064000	0.16182	8.860000	0.92272	1.528000	0.49103	0.205000	0.17691	TGG			0.632	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257034.2		NM_031313	
MROH2A	339766	bcgsc.ca	37	2	234727321	234727321	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:234727321G>A	ENST00000389758.3	+	29	3275	c.3109G>A	c.(3109-3111)Ggc>Agc	p.G1037S				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	1067																	CTCCTTGTGGGGCCCTTCCAA	0.562																																					.													.	.			0			.																																									SO:0001583	missense	339766	.			TTGTGGGGCCCTT		CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.3109G>A	2.37:g.234727321G>A	ENSP00000374408:p.Gly1037Ser		Somatic	137	0	0		WXS	Illumina HiSeq	Phase_1	154	0.00	0	.	0		0		Missense_Mutation	SNP	ENST00000389758.3	37		.	.	.	.	.	.	.	.	.	.	g	10.27	1.303045	0.23736	.	.	ENSG00000185038	ENST00000389758	T	0.05025	3.51	5.08	4.21	0.49690	.	663.144000	0.00508	N	0.000174	T	0.10252	0.0251	L	0.57536	1.79	0.24253	N	0.995318	.	.	.	.	.	.	T	0.54153	-0.8336	8	0.06365	T	0.9	.	9.4345	0.38630	0.098:0.0:0.902:0.0	.	.	.	.	S	1037	ENSP00000374408:G1037S	ENSP00000374408:G1037S	G	+	1	0	HEATR7B1	234392060	0.986000	0.35501	0.677000	0.29947	0.005000	0.04900	2.092000	0.41700	1.150000	0.42419	-0.224000	0.12420	GGC			0.562	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding		OTTHUMT00000130646.6		XM_291007	
GDF5	8200	bcgsc.ca	37	20	34025393	34025394	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr20:34025393_34025394insT	ENST00000374372.1	-	3	818_819	c.315_316insA	c.(313-318)gaacccfs	p.P106fs	GDF5_ENST00000374369.3_Frame_Shift_Ins_p.P106fs			P43026	GDF5_HUMAN	growth differentiation factor 5	106					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTGGCTTGGGTTCAGGGCCGC	0.634																																					p.P106fs													.	GDF5	66		0			c.316_317insA																																									SO:0001589	frameshift_variant	8200	exon1			GCTTGGGTTCAGG	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.316dupA	20.37:g.34025395_34025395dupT	ENSP00000363492:p.Pro106fs		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_1	80	0.00	0	NM_000557	0		0	E1P5Q2|Q96SB1	Frame_Shift_Ins	INS	ENST00000374372.1	37	CCDS13254.1																																																																																					0.634	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078875.2			
RPL13P2	128500	bcgsc.ca	37	20	44728480	44728480	+	IGR	SNP	G	G	A	rs73308794		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr20:44728480G>A								NCOA5 (9889 upstream) : CD40 (18430 downstream)																							TGGATCCGAGGAGGCGGAACA	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17279	0.0		0.0	False		,,,				2504	0.0				.													.	.			0			.																																									SO:0001628	intergenic_variant	128500	.			TCCGAGGAGGCGG																													20.37:g.44728480G>A			Somatic	59	0	0		WXS	Illumina HiSeq	Phase_1	74	0.00	0	.	0		0		RNA	SNP		37																																																																																					0	0.632										
PI4KAP2	375133	broad.mit.edu	37	22	21846329	21846329	+	RNA	DEL	C	C	-	rs367705001|rs554599392		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:21846329delC	ENST00000450651.1	-	0	263							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						GCCAGCGGGGCGGGGGGGCCT	0.672																																					.													.	PI4KAP2	11		0			.																																											0	.			GCGGGGCGGGGGG			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21846329delC			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	17	0.47	8	.	22	0.05	1	Q6ICJ0|Q6ZT68|Q8WUK7	RNA	DEL	ENST00000450651.1	37																																																																																						0.672	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000334908.1			
APOBEC3A	200315	hgsc.bcm.edu	37	22	39357586	39357586	+	Silent	SNP	T	T	C	rs202076860	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:39357586T>C	ENST00000402255.1	+	4	573	c.369T>C	c.(367-369)cgT>cgC	p.R123R	APOBEC3A_ENST00000249116.2_Silent_p.R123R			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	123					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					TGAGACTGCGTATCTTCGCTG	0.572													C|||	105	0.0209665	0.0083	0.0086	5008	,	,		10140	0.0486		0.0249	False		,,,				2504	0.0143				p.R123R													APOBEC3A,caecum,carcinoma,+1,1	APOBEC3A	1	1	0			c.T369C												101.0	99.0	100.0					22																	39357586		2128	4075	6203	SO:0001819	synonymous_variant	200315	exon3			ACTGCGTATCTTC	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"""Apolipoprotein B mRNA editing enzymes"""	17343	protein-coding gene	gene with protein product	"""phorbolin I"""	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.369T>C	22.37:g.39357586T>C			Somatic	65	0.0307692308	2		WXS	Illumina HiSeq	.	49	0.10	5	NM_145699	7	0.00	0	A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	CCDS13981.1																																																																																			0.001		0.572	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320915.2		NM_145699	
ZC3H7B	23264	bcgsc.ca	37	22	41742035	41742035	+	Silent	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:41742035C>T	ENST00000352645.4	+	14	1745	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	ZC3H7B_ENST00000351589.4_Silent_p.Y496Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	512					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTGTAAGTACGGGGATAACT	0.617																																					p.Y496Y													.	ZC3H7B	82		0			c.C1488T												193.0	168.0	177.0					22																	41742035		2203	4300	6503	SO:0001819	synonymous_variant	23264	exon14			TAAGTACGGGGAT		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1488C>T	22.37:g.41742035C>T			Somatic	51	0	0		WXS	Illumina HiSeq	Phase_1	62	0.00	0	NM_017590	20	0.00	0	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	CCDS14013.1																																																																																					0.617	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320696.1		NM_017590	
IQCF6	440956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	51812955	51812955	+	Missense_Mutation	SNP	C	C	T	rs370141442		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:51812955C>T	ENST00000398780.3	-	1	54	c.8G>A	c.(7-9)cGc>cAc	p.R3H		NM_001143833.3	NP_001137305.2	A8MYZ5	IQCF6_HUMAN	IQ motif containing F6	3										breast(1)	1						TAACGTCCGGCGCACCATGTT	0.552																																					p.R3H													.	.			0			c.G8A												18.0	16.0	17.0					3																	51812955		692	1591	2283	SO:0001583	missense	440956	exon2			GTCCGGCGCACCA		CCDS54590.1	3p21.1	2008-10-16			ENSG00000214686	ENSG00000214686			35158	protein-coding gene	gene with protein product							Standard	NM_001143833		Approved		uc021wyv.1	A8MYZ5		ENST00000398780.3:c.8G>A	3.37:g.51812955C>T	ENSP00000381760:p.Arg3His		Somatic	88	0	0		WXS	Illumina HiSeq	.	115	0.17	19	NM_001143833	0		0		Missense_Mutation	SNP	ENST00000398780.3	37	CCDS54590.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364622	0.82463	.	.	ENSG00000214686	ENST00000398780	T	0.63255	-0.03	4.9	4.9	0.64082	.	.	.	.	.	T	0.77157	0.4089	M	0.72894	2.215	0.33234	D	0.556285	D	0.76494	0.999	D	0.81914	0.995	T	0.83257	-0.0050	9	0.87932	D	0	-38.7364	13.4535	0.61184	0.0:1.0:0.0:0.0	.	26	A8MYZ5	IQCF6_HUMAN	H	3	ENSP00000381760:R3H	ENSP00000381760:R3H	R	-	2	0	IQCF6	51787995	0.996000	0.38824	1.000000	0.80357	0.956000	0.61745	3.347000	0.52200	2.564000	0.86499	0.655000	0.94253	CGC			0.552	IQCF6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				XM_496643	
PRICKLE2	166336	bcgsc.ca	37	3	64142837	64142837	+	Splice_Site	SNP	C	C	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:64142837C>A	ENST00000295902.6	-	5	1186		c.e5+1		PRICKLE2_ENST00000564377.1_Splice_Site	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)						establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTTGCTCTAACCTCATCGCAG	0.527																																					.													.	PRICKLE2	88		0			c.600+1G>T												68.0	65.0	66.0					3																	64142837		2203	4300	6503	SO:0001630	splice_region_variant	166336	exon6			CTCTAACCTCATC	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.600+1G>T	3.37:g.64142837C>A			Somatic	220	0	0		WXS	Illumina HiSeq	Phase_1	192	0.00	0	NM_198859	0		0	Q0VF44	Splice_Site	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009362	0.75046	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0989	0.97860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRICKLE2	64117877	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	.			0.527	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000352219.1		NM_198859	Intron
CASR	846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	122002841	122002841	+	Silent	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:122002841C>T	ENST00000490131.1	+	7	2412	c.2040C>T	c.(2038-2040)cgC>cgT	p.R680R	CASR_ENST00000296154.5_Silent_p.R680R|CASR_ENST00000498619.1_Silent_p.R690R|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	680					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCGCCTGCGCCAGCCGGCCT	0.607																																					p.R690R													.	.			0			c.C2070T												93.0	79.0	84.0					3																	122002841		2203	4300	6503	SO:0001819	synonymous_variant	846	exon7			CCTGCGCCAGCCG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2040C>T	3.37:g.122002841C>T			Somatic	85	0	0		WXS	Illumina HiSeq	.	157	0.38	60	NM_001178065	0		0	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																					0.607	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355761.1		NM_000388	
SEMA5B	54437	broad.mit.edu	37	3	122640965	122640967	+	In_Frame_Del	DEL	CGA	CGA	-	rs371380542		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	CGA	CGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:122640965_122640967delCGA	ENST00000357599.3	-	12	1869_1871	c.1483_1485delTCG	c.(1483-1485)tcgdel	p.S495del	SEMA5B_ENST00000451055.2_In_Frame_Del_p.S549del|SEMA5B_ENST00000195173.4_In_Frame_Del_p.S495del	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	495	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGATGGTGCCCGACTCTGGAGGA	0.724																																					p.549_549del													.	SEMA5B	303		0			c.1645_1647del																																									SO:0001651	inframe_deletion	54437	exon12			GGTGCCCGACTCT	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1483_1485delTCG	3.37:g.122640965_122640967delCGA	ENSP00000350215:p.Ser495del		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	108	0.07	8	NM_001256347	0		0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	In_Frame_Del	DEL	ENST00000357599.3	37	CCDS35491.1																																																																																					0.724	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000277165.1		NM_001031702	
USP46	64854	bcgsc.ca	37	4	53492336	53492336	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:53492336T>C	ENST00000441222.3	-	4	594	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	USP46_ENST00000451218.2_Missense_Mutation_p.Q110R|USP46_ENST00000508499.1_Missense_Mutation_p.Q130R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	137	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CTTCTCCTCCTGAAGGATGTC	0.378																																					p.Q137R													.	USP46	38		0			c.A410G												108.0	98.0	101.0					4																	53492336		1819	4088	5907	SO:0001583	missense	64854	exon4			TCCTCCTGAAGGA	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.410A>G	4.37:g.53492336T>C	ENSP00000407818:p.Gln137Arg		Somatic	144	0	0		WXS	Illumina HiSeq	Phase_1	106	0.00	0	NM_022832	2	0.00	0	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	T	8.589	0.884064	0.17467	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.30448	1.53;1.53;1.53	5.27	5.27	0.74061	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000038	T	0.24392	0.0591	L	0.42581	1.335	0.58432	D	0.999997	B;B;B;B	0.09022	0.002;0.0;0.0;0.002	B;B;B;B	0.15052	0.012;0.008;0.008;0.008	T	0.07177	-1.0786	10	0.18710	T	0.47	-10.3519	9.9961	0.41900	0.1507:0.0:0.0:0.8493	.	21;125;137;130	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	R	137;110;130	ENSP00000407818:Q137R;ENSP00000390102:Q110R;ENSP00000423244:Q130R	ENSP00000407818:Q137R	Q	-	2	0	USP46	53187093	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	6.060000	0.71141	2.127000	0.65507	0.528000	0.53228	CAG			0.378	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361516.2		NM_022832	
FAT4	79633	bcgsc.ca	37	4	126237899	126237899	+	Silent	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:126237899T>C	ENST00000394329.3	+	1	346	c.333T>C	c.(331-333)ctT>ctC	p.L111L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTGGTCCTTTCCAGCGCGC	0.617											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L111L													FAT4_ENST00000394329,larynx,carcinoma,+2,2	FAT4	1752	2	0			c.T333C												42.0	51.0	48.0					4																	126237899		2155	4260	6415	SO:0001819	synonymous_variant	79633	exon1			GGTCCTTTCCAGC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.333T>C	4.37:g.126237899T>C			Somatic	60	0	0	1548	WXS	Illumina HiSeq	Phase_1	55	0.00	0	NM_024582	0		0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																					0.617	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256765.2		NM_024582	
SMARCA5	8467	bcgsc.ca	37	4	144445568	144445571	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AGAA	AGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:144445568_144445571delAGAA	ENST00000283131.3	+	4	930_933	c.468_471delAGAA	c.(466-471)acagaafs	p.TE156fs		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	156					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AGCTATTAACAGAAAGCTCCAAAG	0.358																																					p.156_157del													.	SMARCA5	73		0			c.468_471del																																									SO:0001589	frameshift_variant	8467	exon4			ATTAACAGAAAGC	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.468_471delAGAA	4.37:g.144445568_144445571delAGAA	ENSP00000283131:p.Thr156fs		Somatic	371	0	0		WXS	Illumina HiSeq	Phase_1	240	0.00	0	NM_003601	29	0.00	0		Frame_Shift_Del	DEL	ENST00000283131.3	37	CCDS3761.1																																																																																					0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365077.3			
CDC23	8697	broad.mit.edu	37	5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532																																					p.F571L													.	CDC23	46		0			c.T1711C												204.0	185.0	191.0					5																	137524750		2203	4300	6503	SO:0001583	missense	8697	exon16			GGAAAAAGGGAGC	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1711T>C	5.37:g.137524750A>G	ENSP00000378350:p.Phe571Leu		Somatic	142	0.0070422535	1		WXS	Illumina HiSeq	Phase_I	106	0.04	4	NM_004661	56	0.00	0	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595865	0.13875	.	.	ENSG00000094880	ENST00000394886	T	0.40225	1.04	5.29	5.29	0.74685	.	0.117044	0.64402	D	0.000014	T	0.16085	0.0387	N	0.00926	-1.1	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.18053	-1.0349	10	0.10111	T	0.7	-20.9996	15.3818	0.74664	1.0:0.0:0.0:0.0	.	571	Q9UJX2	CDC23_HUMAN	L	571	ENSP00000378350:F571L	ENSP00000378350:F571L	F	-	1	0	CDC23	137552649	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.545000	0.60698	2.225000	0.72522	0.379000	0.24179	TTT			0.532	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251275.2			
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	158158144	158158144	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr5:158158144T>C	ENST00000313708.6	-	11	1340	c.1058A>G	c.(1057-1059)gAt>gGt	p.D353G	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.D345G|EBF1_ENST00000380654.4_Missense_Mutation_p.D322G	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	353					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAACCATAATCGATGGTGGG	0.438			T	HMGA2	lipoma																																p.D353G				Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.			0			c.A1058G												64.0	65.0	65.0					5																	158158144		2203	4300	6503	SO:0001583	missense	1879	exon11			CCATAATCGATGG	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1058A>G	5.37:g.158158144T>C	ENSP00000322898:p.Asp353Gly		Somatic	80	0	0		WXS	Illumina HiSeq	.	49	0.43	21	NM_024007	1	1.00	1	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818311	0.90790	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.88046	-2.33;-2.33;-2.33	5.51	5.51	0.81932	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.85197	2.74	0.80722	D	1	D;D;B;D	0.69078	0.997;0.994;0.122;0.985	D;D;B;P	0.69824	0.95;0.966;0.11;0.908	D	0.94711	0.7892	10	0.87932	D	0	-6.9183	15.9209	0.79570	0.0:0.0:0.0:1.0	.	353;340;353;322	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	G	353;353;322;345	ENSP00000322898:D353G;ENSP00000370029:D322G;ENSP00000428020:D345G	ENSP00000322898:D353G	D	-	2	0	EBF1	158090722	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	7.655000	0.83696	2.210000	0.71456	0.533000	0.62120	GAT			0.438	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000252649.1		NM_024007	
ABT1	29777	bcgsc.ca	37	6	26598339	26598339	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:26598339G>T	ENST00000274849.1	+	2	469		c.e2+1			NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GAACCTCAAGGTGAGAAGATA	0.577																																					.													.	ABT1	39		0			c.438+1G>T												53.0	51.0	52.0					6																	26598339		2203	4300	6503	SO:0001630	splice_region_variant	29777	exon2			CTCAAGGTGAGAA	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.438+1G>T	6.37:g.26598339G>T			Somatic	105	0	0		WXS	Illumina HiSeq	Phase_1	100	0.00	0	NM_013375	0		0		Splice_Site	SNP	ENST00000274849.1	37	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	.	19.48	3.836024	0.71373	.	.	ENSG00000146109	ENST00000274849	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4978	0.67700	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABT1	26706318	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.237000	0.89807	2.195000	0.70347	0.558000	0.71614	.			0.577	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043698.1			Intron
REV3L	5980	bcgsc.ca	37	6	111804004	111804004	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:111804004C>A	ENST00000358835.3	-	2	542	c.88G>T	c.(88-90)Gcc>Tcc	p.A30S	TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000440001.2_RNA|TRAF3IP2-AS1_ENST00000532226.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.A30S|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000420651.2_RNA|REV3L_ENST00000435970.1_5'UTR|REV3L_ENST00000368802.3_Missense_Mutation_p.A30S|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000525151.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	30					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTGACAGGGGCCTGGGTGAGG	0.692								DNA polymerases (catalytic subunits)																													p.A30S													.	REV3L	386		0			c.G88T												17.0	21.0	20.0					6																	111804004		1817	4064	5881	SO:0001583	missense	5980	exon1			CAGGGGCCTGGGT	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.88G>T	6.37:g.111804004C>A	ENSP00000351697:p.Ala30Ser		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_1	119	0.00	0	NM_002912	0		0	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.123539	0.01770	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835	T;T;T	0.01240	5.12;5.12;5.12	3.35	-4.6	0.03390	Ribonuclease H-like (1);	0.761893	0.12209	N	0.489558	T	0.00144	0.0004	N	0.01242	-0.935	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25222	-1.0138	10	0.07325	T	0.83	.	2.4295	0.04468	0.1159:0.4579:0.234:0.1922	.	30	O60673	DPOLZ_HUMAN	S	30	ENSP00000357792:A30S;ENSP00000357795:A30S;ENSP00000351697:A30S	ENSP00000351697:A30S	A	-	1	0	REV3L	111910697	1.000000	0.71417	0.359000	0.25824	0.049000	0.14656	1.217000	0.32455	-1.351000	0.02197	-1.358000	0.01219	GCC			0.692	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043695.1		NM_002912	
COX6A1P3	100287768	bcgsc.ca	37	6	121102580	121102580	+	IGR	SNP	C	C	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:121102580C>A								RNA5SP215 (94692 upstream) : TBC1D32 (298059 downstream)																							CACGTCCAAGCCCTTTCCCTG	0.493																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	100287768	.			TCCAAGCCCTTTC																													6.37:g.121102580C>A			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_1	21	0.00	0	.	0		0		RNA	SNP		37																																																																																					0	0.493										
GRID2IP	392862	hgsc.bcm.edu	37	7	6547896	6547901	+	In_Frame_Del	DEL	CTGAGC	CTGAGC	-			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	CTGAGC	CTGAGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:6547896_6547901delCTGAGC	ENST00000457091.2	-	13	2258_2263	c.2259_2264delGCTCAG	c.(2257-2265)ccgctcagc>ccc	p.LS754del	GRID2IP_ENST00000452113.1_In_Frame_Del_p.LS563del|GRID2IP_ENST00000435185.1_In_Frame_Del_p.LS570del	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	754	Pro-rich.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						TGGTGGGGGGCTGAGCGGGGGTGGGG	0.66																																					p.754_755del													.	.			0			c.2260_2265del																																									SO:0001651	inframe_deletion	392862	exon13			GGGGGGCTGAGCG		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.2259_2264delGCTCAG	7.37:g.6547896_6547901delCTGAGC	ENSP00000397351:p.Leu754_Ser755del		Somatic	38	0	0		WXS	Illumina HiSeq	.	72	0.00	0	NM_001145118	0		0		In_Frame_Del	DEL	ENST00000457091.2	37	CCDS47537.1																																																																																					0.660	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340534.1		XM_294249	
SP4	6671	broad.mit.edu	37	7	21468306	21468306	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:21468306G>A	ENST00000222584.3	+	2	237	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	7	Poly-Glu.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCAGAAGAAGGAGGAGGAGGA	0.512																																					p.E7K													SP4,colon,carcinoma,0,1	SP4	91	1	0			c.G19A												20.0	20.0	20.0					7																	21468306		2171	4251	6422	SO:0001583	missense	6671	exon2			AAGAAGGAGGAGG		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.19G>A	7.37:g.21468306G>A	ENSP00000222584:p.Glu7Lys		Somatic	55	0.0181818182	1		WXS	Illumina HiSeq	Phase_I	39	0.13	5	NM_003112	0		0	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318989	0.41096	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.09911	2.93	4.5	4.5	0.54988	.	0.061123	0.64402	N	0.000005	T	0.10937	0.0267	L	0.36672	1.1	0.44142	D	0.996934	P	0.34587	0.458	B	0.39152	0.292	T	0.20907	-1.0261	10	0.23891	T	0.37	.	12.5742	0.56355	0.0:0.0:1.0:0.0	.	7	Q02446	SP4_HUMAN	K	7	ENSP00000222584:E7K	ENSP00000222584:E7K	E	+	1	0	SP4	21434831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.345000	0.79718	0.563000	0.77884	GAG			0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211617.2		NM_003112	
GPNMB	10457	hgsc.bcm.edu;broad.mit.edu	37	7	23286485	23286486	+	Frame_Shift_Del	DEL	TC	TC	-	rs150499567	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:23286485_23286486delTC	ENST00000381990.2	+	1	170_171	c.9_10delTC	c.(7-12)tgtctcfs	p.L4fs	GPNMB_ENST00000258733.4_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000409458.3_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000453162.2_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000539136.1_Frame_Shift_Del_p.L4fs	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	4					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GCATGGAATGTCTCTACTATTT	0.48																																					p.3_3del													.	.			0			c.8_9del																																									SO:0001589	frameshift_variant	10457	exon1			GGAATGTCTCTAC	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.9_10delTC	7.37:g.23286487_23286488delTC	ENSP00000371420:p.Leu4fs		Somatic	84	0	0		WXS	Illumina HiSeq	.	88	0.24	21	NM_002510	10	0.00	0	A4D155|Q6UVX1|Q8N1A1	Frame_Shift_Del	DEL	ENST00000381990.2	37	CCDS34610.1																																																																																					0.480	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000327152.1		NM_001005340	
NYAP1	222950	bcgsc.ca	37	7	100086782	100086782	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:100086782C>T	ENST00000300179.2	+	4	1597	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	NYAP1_ENST00000454988.1_Missense_Mutation_p.P423S|NYAP1_ENST00000423930.1_Missense_Mutation_p.P480S	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	480					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGCTGGTCCACCCCTGGGTGC	0.647																																					p.P480S													.	.			0			c.C1438T												35.0	38.0	37.0					7																	100086782		2203	4298	6501	SO:0001583	missense	222950	exon4			GGTCCACCCCTGG	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1438C>T	7.37:g.100086782C>T	ENSP00000300179:p.Pro480Ser		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_1	84	0.00	0	NM_173564	3	0.00	0	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	5.881	0.346774	0.11126	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31769	1.48;1.48;1.48	4.56	2.67	0.31697	.	0.000000	0.45606	D	0.000345	T	0.12732	0.0309	N	0.14661	0.345	0.31707	N	0.640066	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.14448	-1.0472	10	0.11794	T	0.64	-15.7646	3.4868	0.07622	0.1735:0.5632:0.1683:0.095	.	423;480	C9JS30;Q6ZVC0	.;CG051_HUMAN	S	480;480;423	ENSP00000300179:P480S;ENSP00000411861:P480S;ENSP00000394424:P423S	ENSP00000300179:P480S	P	+	1	0	C7orf51	99924718	0.773000	0.28580	0.936000	0.37596	0.891000	0.51852	1.165000	0.31822	1.112000	0.41740	-0.314000	0.08810	CCC			0.647	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339335.2		NM_173564	
ZAN	7455	broad.mit.edu	37	7	100331729	100331729	+	RNA	SNP	A	A	G			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:100331729A>G	ENST00000348028.3	+	0	103				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGGAATAAAAGGAGTCCAGG	0.522																																					.													.	ZAN	658		0			.												35.0	33.0	34.0					7																	100331729		674	1495	2169			7455	.			AATAAAAGGAGTC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100331729A>G			Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	161	0.02	4	.	0		0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.522	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347214.1		NM_003386	
WDR60	55112	hgsc.bcm.edu	37	7	158704304	158704304	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:158704304G>T	ENST00000407559.3	+	12	1682	c.1524G>T	c.(1522-1524)ttG>ttT	p.L508F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	508					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.L508F(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCTCTCTCTTGGATCTACCAC	0.318																																					p.L508F													.	.			1	Substitution - Missense(1)	lung(1)	c.G1524T												106.0	98.0	100.0					7																	158704304		1809	4082	5891	SO:0001583	missense	55112	exon12			TCTCTTGGATCTA		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1524G>T	7.37:g.158704304G>T	ENSP00000384290:p.Leu508Phe		Somatic	132	0	0		WXS	Illumina HiSeq	.	114	0.04	5	NM_018051	4	0.00	0	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152301	0.57259	.	.	ENSG00000126870	ENST00000407559	D	0.85861	-2.04	5.03	4.14	0.48551	.	0.000000	0.64402	D	0.000003	T	0.78886	0.4354	L	0.33710	1.025	0.58432	D	0.999997	B	0.22414	0.069	B	0.22386	0.039	T	0.75866	-0.3166	10	0.87932	D	0	-7.4274	13.2306	0.59941	0.0:0.161:0.839:0.0	.	508	Q8WVS4	WDR60_HUMAN	F	508	ENSP00000384290:L508F	ENSP00000384290:L508F	L	+	3	2	WDR60	158397065	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.700000	0.54786	1.097000	0.41459	0.462000	0.41574	TTG			0.318	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322668.1		NM_018051	
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	77775665	77775665	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr8:77775665G>A	ENST00000521891.2	+	11	10163	c.9715G>A	c.(9715-9717)Gat>Aat	p.D3239N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3190N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3194N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3213N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACACATGTCGATCCTATTCA	0.448										HNSCC(33;0.089)																											p.D3239N													.	.			0			c.G9715A												160.0	153.0	155.0					8																	77775665		1888	4121	6009	SO:0001583	missense	79776	exon11			CATGTCGATCCTA		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9715G>A	8.37:g.77775665G>A	ENSP00000430497:p.Asp3239Asn		Somatic	93	0	0		WXS	Illumina HiSeq	.	109	0.26	28	NM_024721	0		0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657933	0.47467	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.62232	0.12;0.18;0.09;0.04	4.55	4.55	0.56014	.	0.000000	0.43416	U	0.000564	T	0.78117	0.4233	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.81035	-0.1115	10	0.72032	D	0.01	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	3194	Q86UP3-4	.	N	3239;3223;3194;3190;3213	ENSP00000430497:D3239N;ENSP00000399605:D3194N;ENSP00000050961:D3190N;ENSP00000430848:D3213N	ENSP00000050961:D3190N	D	+	1	0	ZFHX4	77938220	1.000000	0.71417	0.618000	0.29105	0.801000	0.45260	9.542000	0.98086	2.525000	0.85131	0.561000	0.74099	GAT			0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379197.2		NM_024721	
LRRCC1	85444	broad.mit.edu	37	8	86019547	86019547	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr8:86019547C>T	ENST00000360375.3	+	1	166	c.17C>T	c.(16-18)gCg>gTg	p.A6V	LRRCC1_ENST00000414626.2_5'Flank	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	6					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						gcggcggcggcggtggtggcg	0.657																																					p.A6V													LRRCC1,colon,carcinoma,0,2	LRRCC1	212	2	0			c.C17T												14.0	25.0	22.0					8																	86019547		1814	4022	5836	SO:0001583	missense	85444	exon1			CGGCGGCGGTGGT	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.17C>T	8.37:g.86019547C>T	ENSP00000353538:p.Ala6Val		Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	169	0.04	7	NM_033402	2	0.00	0	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569227	0.28003	.	.	ENSG00000133739	ENST00000360375	T	0.32272	1.46	1.53	-1.48	0.08745	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	0.999995	D	0.53312	0.959	P	0.45971	0.499	T	0.18116	-1.0347	9	0.56958	D	0.05	.	6.716	0.23304	0.3338:0.6662:0.0:0.0	.	6	Q9C099	LRCC1_HUMAN	V	6	ENSP00000353538:A6V	ENSP00000353538:A6V	A	+	2	0	LRRCC1	86206799	0.117000	0.22190	0.000000	0.03702	0.473000	0.32948	0.725000	0.25970	-0.322000	0.08615	-0.410000	0.06199	GCG			0.657	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380267.1		NM_033402	
SCRIB	23513	bcgsc.ca	37	8	144893427	144893427	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr8:144893427C>A	ENST00000320476.3	-	10	1001	c.995G>T	c.(994-996)gGg>gTg	p.G332V	SCRIB_ENST00000356994.2_Missense_Mutation_p.G332V|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.G251V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	332	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.G332V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACACAGCCCCCGATCTCGGG	0.667																																					p.G332V	Pancreas(51;966 1133 10533 14576 29674)												SCRIB,larynx,carcinoma,0,1	SCRIB	192	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G995T												30.0	24.0	26.0					8																	144893427		2198	4297	6495	SO:0001583	missense	23513	exon10			CAGCCCCCGATCT	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.995G>T	8.37:g.144893427C>A	ENSP00000322938:p.Gly332Val		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_1	140	0.00	0	NM_015356	66	0.00	0	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660274	0.47572	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.54071	2.14;0.59;1.79	3.14	3.14	0.36123	.	.	.	.	.	T	0.63616	0.2526	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	T	0.68123	-0.5492	9	0.87932	D	0	.	13.7309	0.62787	0.0:1.0:0.0:0.0	.	332;332	Q14160;Q14160-3	SCRIB_HUMAN;.	V	332;332;251	ENSP00000349486:G332V;ENSP00000322938:G332V;ENSP00000366756:G251V	ENSP00000322938:G332V	G	-	2	0	SCRIB	144965415	1.000000	0.71417	0.700000	0.30305	0.010000	0.07245	7.286000	0.78671	1.753000	0.51906	0.563000	0.77884	GGG			0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000382215.1		NM_015356	
SMARCA2	6595	bcgsc.ca	37	9	2115838	2115838	+	Missense_Mutation	SNP	A	A	C	rs281875240		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr9:2115838A>C	ENST00000382203.1	+	25	3682	c.3473A>C	c.(3472-3474)gAc>gCc	p.D1158A	SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1158A|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1158A|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1158A			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1158	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		D -> V (in NCBRS; dbSNP:rs281875240). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGGCCCAAGACCGAGCTCAC	0.572																																					p.D1158A													.	SMARCA2	313		0			c.A3473C												28.0	26.0	27.0					9																	2115838		2202	4300	6502	SO:0001583	missense	6595	exon25			CCCAAGACCGAGC	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3473A>C	9.37:g.2115838A>C	ENSP00000371638:p.Asp1158Ala		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_1	229	0.00	0	NM_139045	27	0.00	0	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775964	0.70107	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	N	0.26042	0.785	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.985;0.996;0.998	T	0.81976	-0.0686	10	0.66056	D	0.02	-36.9631	15.9124	0.79482	1.0:0.0:0.0:0.0	.	759;1158;1158	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	A	1158	ENSP00000265773:D1158A;ENSP00000349788:D1158A;ENSP00000371638:D1158A;ENSP00000371629:D1158A	ENSP00000265773:D1158A	D	+	2	0	SMARCA2	2105838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.164000	0.68074	0.460000	0.39030	GAC			0.572	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000051505.1		NM_003070	
MT-CYB	4519	hgsc.bcm.edu;broad.mit.edu	37	M	15657	15657	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chrM:15657T>C	ENST00000361789.2	+	1	911	c.911T>C	c.(910-912)aTc>aCc	p.I304T	MT-TP_ENST00000387461.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	304					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CCTAGCAATAATCCCCATCCT	0.443											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.I304T													.	.			0			c.T911C																																									SO:0001583	missense	0	exon1			CAATAATCCCCAT			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.911T>C	M.37:g.15657T>C	ENSP00000354554:p.Ile304Thr		Somatic	17	0	0	585	WXS	Illumina HiSeq	.	35	0.54	19	ENST00000361789	0		0	Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37																																																																																						0.443	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				YP_003024038	
RBMXL3	139804	broad.mit.edu	37	X	114425196	114425196	+	Missense_Mutation	SNP	G	G	A	rs386827028|rs12399211		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chrX:114425196G>A	ENST00000424776.3	+	1	1234	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	398	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CCGCTCGCCCGACGCCCACAG	0.627																																					p.D398N													.	RBMXL3	83		0			c.G1192A																																									SO:0001583	missense	139804	exon1			TCGCCCGACGCCC	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1192G>A	X.37:g.114425196G>A	ENSP00000417451:p.Asp398Asn		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	85	0.07	6	NM_001145346	0		0	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	856	0.5159734779987944	181	0.42890995260663506	151	0.4870967741935484	216	0.4268774703557312	298	0.473015873015873	G	13.89	2.371776	0.42003	.	.	ENSG00000175718	ENST00000424776	T	0.05996	3.36	0.341	0.341	0.15991	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.67145	0.996	P	0.57468	0.821	T	0.48647	-0.9017	8	0.87932	D	0	.	2.8111	0.05442	0.4108:0.0:0.5892:0.0	rs12399211	398	Q8N7X1	RMXL3_HUMAN	N	398	ENSP00000417451:D398N	ENSP00000417451:D398N	D	+	1	0	RBMXL3	114331452	0.003000	0.15002	0.002000	0.10522	0.077000	0.17291	0.196000	0.17176	0.424000	0.26061	0.124000	0.15798	GAC			0.627	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057968.3		NM_001145346	
TUBGCP6	85378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	50655406	50655406	+	IGR	SNP	G	G	A			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:50655406G>A	ENST00000248846.5	-	0	5612				SELO_ENST00000380903.2_Missense_Mutation_p.R565Q|TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000492092.1_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCAGAGCCCGGCTGGACAAG	0.667																																					.													.	.			0			.												18.0	24.0	22.0					22																	50655406		2128	4234	6362	SO:0001628	intergenic_variant	0	.			GAGCCCGGCTGGA	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50655406G>A			Somatic	24	0	0		WXS	Illumina HiSeq	.	47	0.28	13	.	38	0.21	8	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622243	0.96660	.	.	ENSG00000073169	ENST00000380903	T	0.48836	0.8	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.981;0.998	T	0.74103	-0.3773	10	0.38643	T	0.18	.	18.6671	0.91495	0.0:0.0:1.0:0.0	.	565;408	Q9BVL4;Q6ICA4	SELO_HUMAN;.	Q	565	ENSP00000370288:R565Q	ENSP00000370288:R565Q	R	+	2	0	RP3-402G11.5	48997533	1.000000	0.71417	0.797000	0.32132	0.791000	0.44710	8.389000	0.90172	2.404000	0.81709	0.491000	0.48974	CGG			0.667	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075004.3		NM_020461	
