#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
NBPF1	55672	broad.mit.edu	37	1	16918395	16918395	+	Missense_Mutation	SNP	T	T	C	rs60769486		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:16918395T>C	ENST00000430580.2	-	7	1009	c.122A>G	c.(121-123)aAa>aGa	p.K41R		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	41						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TACAAAACATTTCTCTTTGAG	0.458																																					.													.	.			0			.												392.0	394.0	394.0					1																	16918395		2203	4300	6503	SO:0001583	missense	55672	.			AAACATTTCTCTT	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.122A>G	1.37:g.16918395T>C	ENSP00000474456:p.Lys41Arg		Somatic	103	0.0097087379	1		WXS	Illumina HiSeq	Phase_I	104	0.05	5	.	3	0.00	0	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																						0.458	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000106436.3		NM_017940	
HIVEP3	59269	broad.mit.edu	37	1	42048123	42048123	+	Silent	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:42048123G>T	ENST00000372583.1	-	4	3231	c.2346C>A	c.(2344-2346)tcC>tcA	p.S782S	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Silent_p.S782S|HIVEP3_ENST00000247584.5_Silent_p.S782S|HIVEP3_ENST00000429157.2_Silent_p.S782S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	782	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATTCTGAACCGGACCCTGGCT	0.542																																					p.S782S													.	HIVEP3	235		0			c.C2346A												44.0	48.0	46.0					1																	42048123		2203	4300	6503	SO:0001819	synonymous_variant	59269	exon4			TGAACCGGACCCT	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2346C>A	1.37:g.42048123G>T			Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	149	0.03	4	NM_024503	2	0.00	0	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																					0.542	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000016978.1		NM_024503	
NDC1	55706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	54269668	54269668	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:54269668C>G	ENST00000371429.3	-	10	1597	c.999G>C	c.(997-999)caG>caC	p.Q333H	NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_Missense_Mutation_p.Q218H|NDC1_ENST00000540001.1_Missense_Mutation_p.Q333H	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	333					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										ACATCAGGTCCTGCAAGGCTA	0.343																																					p.Q333H													.	.			0			c.G999C												143.0	147.0	146.0					1																	54269668		2203	4300	6503	SO:0001583	missense	55706	exon10			CAGGTCCTGCAAG	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.999G>C	1.37:g.54269668C>G	ENSP00000360483:p.Gln333His		Somatic	270	0	0		WXS	Illumina HiSeq	.	283	0.19	55	NM_018087	53	0.34	18	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171568	0.57584	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.53423	0.62;0.62;0.62	5.62	3.69	0.42338	.	0.053610	0.85682	D	0.000000	T	0.51143	0.1657	L	0.36672	1.1	0.51012	D	0.999908	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.44314	-0.9336	10	0.13853	T	0.58	.	8.0214	0.30412	0.0:0.6671:0.0:0.3329	.	293;333	B4DHA3;Q9BTX1	.;NDC1_HUMAN	H	333;333;333;218	ENSP00000360483:Q333H;ENSP00000440873:Q333H;ENSP00000234725:Q218H	ENSP00000234725:Q218H	Q	-	3	2	TMEM48	54042256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.142000	0.31540	0.686000	0.31488	0.543000	0.68304	CAG			0.343	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022101.1		NM_018087	
SEC22B	9554	broad.mit.edu	37	1	145109259	145109260	+	RNA	INS	-	-	A	rs61810755|rs11386827		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:145109259_145109260insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											cactccagcccgggggcagagc	0.48																																					.													.	.			0			.																																											9554	.			CCAGCCCGGGGGC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109259_145109260insA			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	11	0.36	4	.	0		0	A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.480	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000038523.5		NM_004892	
CFH	3075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	196709833	196709833	+	Missense_Mutation	SNP	C	C	T	rs145975787	byFrequency	TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:196709833C>T	ENST00000367429.4	+	18	3107	c.2867C>T	c.(2866-2868)aCg>aTg	p.T956M		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	956	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.		T -> M (in AHUS1; dbSNP:rs145975787). {ECO:0000269|PubMed:11170895, ECO:0000269|PubMed:11851332}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAAGAAGTTACGTACAAATGT	0.388													C|||	6	0.00119808	0.0	0.0014	5008	,	,		16906	0.0		0.001	False		,,,				2504	0.0041				p.T956M													.	.			0			c.C2867T	GRCh37	CM010316	CFH	M	rs145975787		C	MET/THR	1,4405		0,1,2202	155.0	145.0	148.0		2867	-3.2	0.0	1	dbSNP_134	148	14,8586		0,14,4286	yes	missense	CFH	NM_000186.3	81	0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153	possibly-damaging	956/1232	196709833	15,12991	2203	4300	6503	SO:0001583	missense	3075	exon18			AAGTTACGTACAA	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2867C>T	1.37:g.196709833C>T	ENSP00000356399:p.Thr956Met		Somatic	327	0	0		WXS	Illumina HiSeq	.	332	0.10	34	NM_000186	45	0.00	0	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	17.21	3.331413	0.60853	2.27E-4	0.001628	ENSG00000000971	ENST00000367429	T	0.65732	-0.17	6.06	-3.15	0.05233	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52191	0.1719	M	0.80616	2.505	0.09310	N	1	D	0.53462	0.96	B	0.39119	0.291	T	0.47433	-0.9118	9	0.46703	T	0.11	.	1.4941	0.02463	0.1163:0.3146:0.2267:0.3424	.	956	P08603	CFAH_HUMAN	M	956	ENSP00000356399:T956M	ENSP00000356399:T956M	T	+	2	0	CFH	194976456	0.000000	0.05858	0.000000	0.03702	0.463000	0.32649	-0.416000	0.07097	-0.959000	0.03618	0.650000	0.86243	ACG	0.001		0.388	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086412.2		NM_000186	
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	228554833	228554843	+	Frame_Shift_Del	DEL	GACCAGTTTGA	GACCAGTTTGA	-			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	GACCAGTTTGA	GACCAGTTTGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:228554833_228554843delGACCAGTTTGA	ENST00000422127.1	+	86	19629_19639	c.19585_19595delGACCAGTTTGA	c.(19585-19596)gaccagtttgagfs	p.DQFE6529fs	OBSCN_ENST00000570156.2_Frame_Shift_Del_p.DQFE7486fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.DQFE4163fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6529	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCTGCTGGACCAGTTTGAGACCCGCAAG	0.664																																					p.7485_7489del													.	OBSCN	2142		0			c.22455_22465del																																									SO:0001589	frameshift_variant	84033	exon97			CTGCTGGACCAGT	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19585_19595delGACCAGTTTGA	1.37:g.228554833_228554843delGACCAGTTTGA	ENSP00000409493:p.Asp6529fs		Somatic	164	0	0		WXS	Illumina HiSeq	.	191	0.07	14	NM_001271223	1	0.00	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	CCDS58065.1																																																																																					0.664	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843	
FMN2	56776	hgsc.bcm.edu	37	1	240371511	240371511	+	Silent	SNP	C	C	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:240371511C>G	ENST00000319653.9	+	5	3629	c.3399C>G	c.(3397-3399)ccC>ccG	p.P1133P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1133	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCCTCCCCCTCTTCCCG	0.716																																					p.P1133P													FMN2,NS,carcinoma,+2,1	FMN2	2	1	0			c.C3399G												6.0	8.0	7.0					1																	240371511		2081	4084	6165	SO:0001819	synonymous_variant	56776	exon5			TCCTCCCCCTCTT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3399C>G	1.37:g.240371511C>G			Somatic	63	0	0		WXS	Illumina HiSeq	.	98	0.06	6	NM_020066	4	0.00	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352	
ZNF496	84838	broad.mit.edu	37	1	247492780	247492780	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:247492780T>C	ENST00000294753.4	-	3	565	c.101A>G	c.(100-102)gAg>gGg	p.E34G	ZNF496_ENST00000366498.2_Missense_Mutation_p.E34G	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	34					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTGGGAAGCTCCCCCTGGGG	0.687																																					p.E34G													.	ZNF496	80		0			c.A101G												36.0	46.0	42.0					1																	247492780		2203	4300	6503	SO:0001583	missense	84838	exon3			GGAAGCTCCCCCT	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.101A>G	1.37:g.247492780T>C	ENSP00000294753:p.Glu34Gly		Somatic	267	0.0149812734	4		WXS	Illumina HiSeq	Phase_I	308	0.02	6	NM_032752	92	0.00	0	Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925814	0.52759	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07688	3.17;3.17	4.37	3.1	0.35709	Retrovirus capsid, C-terminal (1);	0.141755	0.32231	N	0.006384	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.99	D;P	0.78314	0.991;0.824	T	0.20505	-1.0273	9	.	.	.	-26.6926	5.3425	0.15990	0.0:0.1716:0.0:0.8284	.	34;34	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	G	34	ENSP00000294753:E34G;ENSP00000355454:E34G	.	E	-	2	0	ZNF496	245559403	0.977000	0.34250	0.176000	0.23000	0.824000	0.46624	3.341000	0.52151	0.701000	0.31803	0.459000	0.35465	GAG			0.687	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098655.2		NM_032752	
TIMM23	100287932	broad.mit.edu	37	10	51592585	51592585	+	Silent	SNP	T	T	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr10:51592585T>C	ENST00000260867.4	-	7	672	c.549A>G	c.(547-549)acA>acG	p.T183T	TIMM23_ENST00000485812.1_5'UTR|TIMM23_ENST00000374065.3_Silent_p.T146T|TIMM23_ENST00000374064.3_Silent_p.T135T	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	183					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GTGTTAGTCCTGTCAGACCAC	0.458																																					p.T183T													.	TIMM23	4		0			c.A549G												137.0	129.0	132.0					10																	51592585		2203	4300	6503	SO:0001819	synonymous_variant	100287932	exon7			TAGTCCTGTCAGA	AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.549A>G	10.37:g.51592585T>C			Somatic	112	0.0089285714	1		WXS	Illumina HiSeq	Phase_I	112	0.03	3	NM_006327	509	0.00	0	Q53FF8|Q5T1E6|Q6P5S5	Silent	SNP	ENST00000260867.4	37	CCDS7238.1	.	.	.	.	.	.	.	.	.	.	T	1.240	-0.621638	0.03636	.	.	ENSG00000138297	ENST00000444743	.	.	.	5.41	2.9	0.33743	.	.	.	.	.	T	0.44932	0.1317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34775	-0.9815	4	.	.	.	-17.9647	2.6283	0.04936	0.1197:0.137:0.1242:0.6191	.	.	.	.	G	81	.	.	R	-	1	2	TIMM23	51262591	0.993000	0.37304	0.984000	0.44739	0.003000	0.03518	0.153000	0.16323	1.017000	0.39495	0.533000	0.62120	AGG			0.458	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048040.1		NM_006327.2	
MUC2	4583	hgsc.bcm.edu	37	11	1092970	1092970	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:1092970A>C	ENST00000441003.2	+	30	4816	c.4789A>C	c.(4789-4791)Aca>Cca	p.T1597P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cccaaccccaacacccaccgg	0.637																																					p.T1597P													MUC2_ENST00000441003,NS,carcinoma,-1,1	MUC2_ENST00000441003	-1	1	0			c.A4789C												47.0	82.0	69.0					11																	1092970		1780	3232	5012	SO:0001583	missense	4583	exon30			ACCCCAACACCCA	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4789A>C	11.37:g.1092970A>C	ENSP00000415183:p.Thr1597Pro		Somatic	51	0.0196078431	1		WXS	Illumina HiSeq	.	37	0.08	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	3.935	-0.015316	0.07681	.	.	ENSG00000198788	ENST00000441003	T	0.14766	2.48	1.75	1.75	0.24633	.	.	.	.	.	T	0.06645	0.0170	.	.	.	0.09310	N	1	P	0.49090	0.919	B	0.34779	0.189	T	0.30707	-0.9969	8	0.25751	T	0.34	.	6.906	0.24309	1.0:0.0:0.0:0.0	.	1597	E7EUV1	.	P	1597	ENSP00000415183:T1597P	ENSP00000415183:T1597P	T	+	1	0	MUC2	1082970	0.023000	0.18921	0.001000	0.08648	0.141000	0.21300	1.295000	0.33377	0.841000	0.35020	0.102000	0.15555	ACA			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
PHLDA2	7262	broad.mit.edu	37	11	2950232	2950232	+	Silent	SNP	T	T	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:2950232T>G	ENST00000314222.4	-	1	453	c.363A>C	c.(361-363)gcA>gcC	p.A121A		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	121					apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCGGCGGGTGCGGCGGGTG	0.746																																					p.A121A													.	PHLDA2	10		0			c.A363C												5.0	8.0	7.0					11																	2950232		1890	3859	5749	SO:0001819	synonymous_variant	7262	exon1			GGCGGGTGCGGCG	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.363A>C	11.37:g.2950232T>G			Somatic	26	0.4230769231	11		WXS	Illumina HiSeq	Phase_I	42	0.45	19	NM_003311	0		0	O00496	Silent	SNP	ENST00000314222.4	37	CCDS7741.1																																																																																					0.746	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030116.1		NM_003311	
PHLDA2	7262	broad.mit.edu	37	11	2950513	2950513	+	Missense_Mutation	SNP	G	G	T	rs554708054		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:2950513G>T	ENST00000314222.4	-	1	172	c.82C>A	c.(82-84)Cgc>Agc	p.R28S		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	28	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R28S(1)		central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCACCCCGCGCTTCTTCTTC	0.672																																					p.R28S													PHLDA2,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	PHLDA2	10	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.C82A												18.0	20.0	19.0					11																	2950513		2199	4297	6496	SO:0001583	missense	7262	exon1			CCCCGCGCTTCTT	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.82C>A	11.37:g.2950513G>T	ENSP00000319231:p.Arg28Ser		Somatic	57	0.0175438596	1		WXS	Illumina HiSeq	Phase_I	73	0.10	7	NM_003311	17	0.00	0	O00496	Missense_Mutation	SNP	ENST00000314222.4	37	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727508	0.69074	.	.	ENSG00000181649	ENST00000314222	T	0.45668	0.89	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.303419	0.25124	U	0.032956	T	0.43055	0.1230	M	0.66939	2.045	0.40575	D	0.98133	P	0.43578	0.811	B	0.39771	0.309	T	0.53507	-0.8429	10	0.44086	T	0.13	-19.9369	15.3955	0.74790	0.0:0.0:1.0:0.0	.	28	Q53GA4	PHLA2_HUMAN	S	28	ENSP00000319231:R28S	ENSP00000319231:R28S	R	-	1	0	PHLDA2	2907089	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.678000	0.46900	1.660000	0.50760	0.313000	0.20887	CGC			0.672	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030116.1		NM_003311	
SMPD1	6609	hgsc.bcm.edu	37	11	6411972	6411972	+	Silent	SNP	T	T	G	rs281860676		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:6411972T>G	ENST00000342245.4	+	1	312	c.144T>G	c.(142-144)gcT>gcG	p.A48A	SMPD1_ENST00000299397.3_Silent_p.A48A|SMPD1_ENST00000356761.2_Silent_p.A48A|SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_Silent_p.A48A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	47					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	tggcgctggcTCTGTCTGACT	0.697																																					p.A48A													SMPD1_ENST00000342245,colon,carcinoma,+1,2	SMPD1_ENST00000342245	1	2	0			c.T144G												25.0	28.0	27.0					11																	6411972		2201	4296	6497	SO:0001819	synonymous_variant	6609	exon1			GCTGGCTCTGTCT	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.144T>G	11.37:g.6411972T>G			Somatic	61	0.0163934426	1		WXS	Illumina HiSeq	.	83	0.06	5	NM_000543	12	0.00	0	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	CCDS44531.1																																																																																					0.697	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000384205.1		NM_000543	
SYVN1	84447	mdanderson.org	37	11	64895914	64895914	+	Silent	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:64895914G>T	ENST00000377190.3	-	16	1888	c.1794C>A	c.(1792-1794)ccC>ccA	p.P598P	SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Silent_p.P597P|SYVN1_ENST00000294256.8_Silent_p.P597P|SYVN1_ENST00000307289.6_Silent_p.P546P	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	598					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGCTGCATCGGGCTCTCCAT	0.637																																					p.P598P													.	.			0			c.C1794A												32.0	38.0	36.0					11																	64895914		2201	4297	6498	SO:0001819	synonymous_variant	84447	exon16			TGCATCGGGCTCT	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1794C>A	11.37:g.64895914G>T			Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	68	0.06	4	NM_172230	155	0.00	0	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	a	5.891	0.348444	0.11126	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	-5.58	0.02512	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50372	-0.8836	6	0.59425	D	0.04	.	2.2074	0.03939	0.2486:0.1214:0.3927:0.2373	.	.	.	.	Q	598	.	ENSP00000412962:P598Q	P	-	2	0	SYVN1	64652490	0.000000	0.05858	0.858000	0.33744	0.929000	0.56500	-4.618000	0.00207	-1.497000	0.01826	-1.431000	0.01090	CCG			0.637	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000385274.1		NM_032431	
INPPL1	3636	ucsc.edu	37	11	71942183	71942183	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:71942183G>T	ENST00000298229.2	+	12	1651	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	INPPL1_ENST00000538751.1_Missense_Mutation_p.D241Y|INPPL1_ENST00000541756.1_Missense_Mutation_p.D241Y	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	483					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGAGTGGCTGGACCTACTGCG	0.617																																					p.D483Y													.	INPPL1	120		0			c.G1447T												137.0	146.0	143.0					11																	71942183		2199	4293	6492	SO:0001583	missense	3636	exon12			TGGCTGGACCTAC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1447G>T	11.37:g.71942183G>T	ENSP00000298229:p.Asp483Tyr		Somatic	54	0	0		WXS	Illumina HiSeq		42	0.10	4	NM_001567	75	0.00	0	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.494353	0.85069	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.81579	-1.51;-1.51;-1.51	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.052776	0.85682	D	0.000000	D	0.88887	0.6559	M	0.75615	2.305	0.58432	D	0.999998	D	0.71674	0.998	P	0.61874	0.895	D	0.89524	0.3780	10	0.87932	D	0	.	18.6606	0.91470	0.0:0.0:1.0:0.0	.	483	O15357	SHIP2_HUMAN	Y	483;241;241	ENSP00000298229:D483Y;ENSP00000446360:D241Y;ENSP00000444619:D241Y	ENSP00000298229:D483Y	D	+	1	0	INPPL1	71619831	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.594000	0.82698	2.746000	0.94184	0.655000	0.94253	GAC			0.617	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396789.1		NM_001567	
FAT3	120114	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	92573793	92573793	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:92573793T>A	ENST00000298047.6	+	17	10451	c.10434T>A	c.(10432-10434)aaT>aaA	p.N3478K	FAT3_ENST00000525166.1_Missense_Mutation_p.N3328K|FAT3_ENST00000409404.2_Missense_Mutation_p.N3478K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3478	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTTCACAATGGGCCTCCCT	0.463										TCGA Ovarian(4;0.039)																											p.N3478K													.	FAT3	1822		0			c.T10434A												81.0	81.0	81.0					11																	92573793		1887	4135	6022	SO:0001583	missense	120114	exon17			TCACAATGGGCCT	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10434T>A	11.37:g.92573793T>A	ENSP00000298047:p.Asn3478Lys		Somatic	172	0.0058139535	1		WXS	Illumina HiSeq	Phase_I	156	0.21	33	NM_001008781	1	0.00	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	19.57	3.852650	0.71719	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59906	0.23;0.23;0.23	5.2	0.319	0.15873	.	.	.	.	.	T	0.81550	0.4846	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80999	-0.1131	9	0.87932	D	0	.	8.5753	0.33595	0.0:0.3222:0.0:0.6778	.	3478	Q8TDW7-3	.	K	3478;3478;3328	ENSP00000298047:N3478K;ENSP00000387040:N3478K;ENSP00000432586:N3328K	ENSP00000298047:N3478K	N	+	3	2	FAT3	92213441	0.979000	0.34478	0.999000	0.59377	0.999000	0.98932	0.112000	0.15479	0.019000	0.15079	0.533000	0.62120	AAT			0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding				NM_001008781	
CACNA1C	775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	2743461	2743461	+	Splice_Site	SNP	A	A	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:2743461A>C	ENST00000347598.4	+	32	3972		c.e32-1		CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399629.1_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCCCATGCAGCACTATTTC	0.403																																					.													.	.			0			c.3829-2A>C												64.0	56.0	58.0					12																	2743461		1934	4131	6065	SO:0001630	splice_region_variant	775	exon30			CCATGCAGCACTA	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3973-1A>C	12.37:g.2743461A>C			Somatic	91	0	0		WXS	Illumina HiSeq	.	283	0.14	41	NM_001129839	1	0.00	0	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Splice_Site	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158701	0.78226	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399638;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000399634;ENST00000399595;ENST00000322367	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2552	0.73579	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2613722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.004000	0.58718	0.533000	0.62120	.			0.403	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317035.1		NM_000719	Intron
TAS2R43	259289	hgsc.bcm.edu	37	12	11243716	11243716	+	IGR	SNP	T	T	C	rs199540487		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:11243716T>C	ENST00000531678.1	-	0	1027				PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		cacacacacatatatatatat	0.274																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CACACATATATAT	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537			12.37:g.11243716T>C			Somatic	7	0	0		WXS	Illumina HiSeq	.	16	0.44	7	.	0		0	P59546|Q645X4	RNA	SNP	ENST00000531678.1	37	CCDS53749.1																																																																																					0.274	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383561.1		NM_176884	
TAS2R43	259289	hgsc.bcm.edu	37	12	11243718	11243718	+	IGR	SNP	T	T	C	rs200560394		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:11243718T>C	ENST00000531678.1	-	0	1027				PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		cacacacatatatatatatat	0.274																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CACATATATATAT	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537			12.37:g.11243718T>C			Somatic	6	0	0		WXS	Illumina HiSeq	.	19	0.26	5	.	0		0	P59546|Q645X4	RNA	SNP	ENST00000531678.1	37	CCDS53749.1																																																																																					0.274	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383561.1		NM_176884	
TUBA1C	84790	ucsc.edu	37	12	49666152	49666152	+	Silent	SNP	G	G	A	rs199599214	byFrequency	TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:49666152G>A	ENST00000301072.6	+	4	767	c.492G>A	c.(490-492)aaG>aaA	p.K164K	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.K234K	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	164					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K164K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						ATGGCAAGAAGTCCAAGCTGG	0.547																																					p.K164K													TUBA1C,colon,carcinoma,0,1	TUBA1C	32	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A												56.0	58.0	57.0					12																	49666152		2203	4300	6503	SO:0001819	synonymous_variant	84790	exon4			CAAGAAGTCCAAG	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.492G>A	12.37:g.49666152G>A			Somatic	282	0.0638297872	18		RNA-Seq	Illumina HiSeq		427	0.08	36	NM_032704	2972	0.40	1193		Missense_Mutation	SNP	ENST00000301072.6	37	CCDS8782.1																																																																																					0.547	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404424.1		NM_032704	
TRAFD1	10906	broad.mit.edu	37	12	112579948	112579948	+	Silent	SNP	T	T	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:112579948T>G	ENST00000257604.5	+	6	1316	c.699T>G	c.(697-699)ggT>ggG	p.G233G	TRAFD1_ENST00000412615.2_Silent_p.G233G	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	233					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CCAAAGAGGGTGGTGAAGAGA	0.473																																					p.G233G													.	TRAFD1	42		0			c.T699G												93.0	98.0	96.0					12																	112579948		2203	4300	6503	SO:0001819	synonymous_variant	10906	exon6			AGAGGGTGGTGAA	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.699T>G	12.37:g.112579948T>G			Somatic	90	0.1111111111	10		WXS	Illumina HiSeq	Phase_I	145	0.17	25	NM_001143906	63	0.00	0	A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	CCDS9160.1																																																																																					0.473	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405214.1		NM_006700	
GCN1L1	10985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	120616506	120616506	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:120616506C>A	ENST00000300648.6	-	7	594	c.582G>T	c.(580-582)caG>caT	p.Q194H		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	194					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCATAGTTCTGGTTGGGCT	0.567																																					p.Q194H													.	.			0			c.G582T												100.0	102.0	101.0					12																	120616506		2058	4218	6276	SO:0001583	missense	10985	exon7			ATAGTTCTGGTTG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.582G>T	12.37:g.120616506C>A	ENSP00000300648:p.Gln194His		Somatic	167	0	0		WXS	Illumina HiSeq	.	237	0.19	44	NM_006836	45	0.11	5	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727881	0.15507	.	.	ENSG00000089154	ENST00000300648	T	0.05139	3.49	5.69	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.057098	0.64402	D	0.000001	T	0.05044	0.0135	N	0.19112	0.55	0.42041	D	0.991073	B	0.02656	0.0	B	0.04013	0.001	T	0.38156	-0.9674	10	0.40728	T	0.16	0.8317	10.9661	0.47414	0.0:0.8482:0.0:0.1518	.	194	Q92616	GCN1L_HUMAN	H	194	ENSP00000300648:Q194H	ENSP00000300648:Q194H	Q	-	3	2	GCN1L1	119100889	0.840000	0.29493	1.000000	0.80357	0.943000	0.58893	0.285000	0.18883	1.385000	0.46445	0.563000	0.77884	CAG			0.567	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403592.1			
CDX2	1045	mdanderson.org	37	13	28542962	28542962	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr13:28542962G>C	ENST00000381020.7	-	1	2314	c.182C>G	c.(181-183)cCg>cGg	p.P61R	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	61					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGATGGCCCCGGGGACTGCGC	0.736			T	ETV6	AML																																p.P61R				Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	CDX2,NS,carcinoma,-1,1	CDX2	-1	1	0			c.C182G												8.0	11.0	10.0					13																	28542962		2153	4248	6401	SO:0001583	missense	1045	exon1			GGCCCCGGGGACT	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.182C>G	13.37:g.28542962G>C	ENSP00000370408:p.Pro61Arg		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	12	0.25	3	NM_001265	0		0	O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	ENST00000381020.7	37	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369474	0.61624	.	.	ENSG00000165556	ENST00000381020	T	0.54675	0.56	4.5	4.5	0.54988	Caudal-like activation domain (1);	0.109668	0.41001	D	0.000968	T	0.65344	0.2682	M	0.61703	1.905	0.39709	D	0.971303	D	0.67145	0.996	D	0.71184	0.972	T	0.64837	-0.6313	10	0.34782	T	0.22	-25.0259	10.9408	0.47273	0.0873:0.0:0.9127:0.0	.	61	Q99626	CDX2_HUMAN	R	61	ENSP00000370408:P61R	ENSP00000370408:P61R	P	-	2	0	CDX2	27440962	0.142000	0.22610	0.985000	0.45067	0.547000	0.35210	1.940000	0.40223	2.331000	0.79229	0.407000	0.27541	CCG			0.736	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044312.5			
TPTE2P2	644623	broad.mit.edu	37	13	52855276	52855277	+	RNA	DEL	TG	TG	-	rs373565102|rs377643612		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr13:52855276_52855277delTG	ENST00000451298.1	-	0	333																											ctggtgtgcttgtgtgtgtgtg	0.47																																					.													.	.			0			.																																											0	.			TGTGCTTGTGTGT																													13.37:g.52855286_52855287delTG			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	10	0.30	3	.	0		0		RNA	DEL	ENST00000451298.1	37																																																																																						0.470	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript		OTTHUMT00000471093.1			
ATP11A	23250	broad.mit.edu	37	13	113530168	113530168	+	Silent	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr13:113530168G>T	ENST00000487903.1	+	28	3328	c.3240G>T	c.(3238-3240)gtG>gtT	p.V1080V	ATP11A_ENST00000283558.8_Silent_p.V1080V|ATP11A_ENST00000375645.3_Silent_p.V1080V|ATP11A_ENST00000375630.2_Silent_p.V1080V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1080					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGGCCATCGTGCTGCTGGTGA	0.607																																					p.V1080V													.	ATP11A	225		0			c.G3240T												71.0	65.0	67.0					13																	113530168		2203	4300	6503	SO:0001819	synonymous_variant	23250	exon28			CATCGTGCTGCTG	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3240G>T	13.37:g.113530168G>T			Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	92	0.03	3	NM_032189	4	0.00	0	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	0.573	-0.840484	0.02692	.	.	ENSG00000068650	ENST00000415301	.	.	.	4.79	-4.08	0.03963	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	.	0.1593	0.00101	0.2611:0.2737:0.1848:0.2804	.	.	.	.	S	16	.	.	A	+	1	0	ATP11A	112578169	0.006000	0.16342	0.002000	0.10522	0.004000	0.04260	-0.698000	0.05092	-0.690000	0.05142	-0.305000	0.09177	GCT			0.607	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045834.3		NM_015205	
CHD8	57680	mdanderson.org	37	14	21871325	21871325	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr14:21871325G>T	ENST00000557364.1	-	18	3828	c.3565C>A	c.(3565-3567)Cag>Aag	p.Q1189K	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.Q910K|CHD8_ENST00000399982.2_Missense_Mutation_p.Q1189K			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1189	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGGCAGCCTGTCGAAGGTTG	0.478																																					p.Q1189K													.	.			0			c.C3565A												64.0	68.0	67.0					14																	21871325		2076	4223	6299	SO:0001583	missense	57680	exon17			CAGCCTGTCGAAG	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3565C>A	14.37:g.21871325G>T	ENSP00000451601:p.Gln1189Lys		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	91	0.04	4	NM_001170629	20	0.00	0	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.929492|4.929492	0.92389|0.92389	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.95554|.	-3.74;-3.74;-3.74|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75221|0.75221	0.3820|0.3820	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.79108|.	0.992;0.979|.	T|T	0.73764|0.73764	-0.3880|-0.3880	10|5	0.46703|.	T|.	0.11|.	-19.5637|-19.5637	17.9328|17.9328	0.89004|0.89004	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1189;910|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	K|K	910;1189;909;1189|414	ENSP00000406288:Q910K;ENSP00000382863:Q1189K;ENSP00000451601:Q1189K|.	ENSP00000262707:Q909K|.	Q|T	-|-	1|2	0|0	CHD8|CHD8	20941165|20941165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.654000|9.654000	0.98509|0.98509	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CAG|ACA			0.478	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410436.1		NM_020920	
IPO4	79711	mdanderson.org	37	14	24653309	24653309	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr14:24653309G>T	ENST00000354464.6	-	18	1940	c.1764C>A	c.(1762-1764)agC>agA	p.S588R	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	588					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTGCAAATAGGCTGTACCTGG	0.597																																					p.S588R													.	.			0			c.C1764A												32.0	33.0	33.0					14																	24653309		1992	4174	6166	SO:0001583	missense	79711	exon18			AAATAGGCTGTAC	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1764C>A	14.37:g.24653309G>T	ENSP00000346453:p.Ser588Arg		Somatic	91	0.010989011	1		WXS	Illumina HiSeq	Phase_I	124	0.04	5	NM_024658	196	0.00	0	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709121	0.48517	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.59638	0.25	5.93	0.227	0.15359	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	L	0.59436	1.845	0.58432	D	0.999993	D;D	0.69078	0.994;0.997	P;D	0.64042	0.837;0.921	T	0.58983	-0.7539	10	0.23302	T	0.38	-14.8753	10.4724	0.44644	0.4744:0.0:0.5256:0.0	.	588;588	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	R	588;264	ENSP00000346453:S588R	ENSP00000346453:S588R	S	-	3	2	IPO4	23723149	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	1.237000	0.32695	0.099000	0.17552	0.655000	0.94253	AGC			0.597	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071931.4		NM_024658	
IGHV3-16	28447	broad.mit.edu	37	14	106622157	106622157	+	RNA	SNP	A	A	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr14:106622157A>C	ENST00000390604.2	-	0	161									immunoglobulin heavy variable 3-16 (non-functional)																		GGCTGTACCAAGCCTCCCCCA	0.572																																					.													.	.			0			.												81.0	77.0	78.0					14																	106622157		1822	4040	5862			0	.			GTACCAAGCCTCC	M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106622157A>C			Somatic	92	0.0217391304	2		WXS	Illumina HiSeq	Phase_I	127	0.04	5	.	201	0.00	0		RNA	SNP	ENST00000390604.2	37																																																																																						0.572	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene		OTTHUMT00000325661.1		NG_001019	
ADAMTS17	170691	broad.mit.edu	37	15	100672218	100672218	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr15:100672218T>G	ENST00000268070.4	-	12	1820	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	572	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTACGGGGGGTTGTCACATTT	0.627											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N572T													.	ADAMTS17	127		0			c.A1715C												58.0	62.0	60.0					15																	100672218		2203	4300	6503	SO:0001583	missense	170691	exon12			GGGGGGTTGTCAC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1715A>C	15.37:g.100672218T>G	ENSP00000268070:p.Asn572Thr		Somatic	71	0.1408450704	10	1353	WXS	Illumina HiSeq	Phase_I	103	0.21	22	NM_139057	0		0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407643	0.62399	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.53640	0.61	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.46885	1.475	0.58432	D	0.999999	P;P	0.47484	0.59;0.896	B;P	0.48952	0.264;0.596	T	0.55786	-0.8086	10	0.66056	D	0.02	.	15.1255	0.72481	0.0:0.0:0.0:1.0	.	329;572	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	T	572;329	ENSP00000268070:N572T	ENSP00000268070:N572T	N	-	2	0	ADAMTS17	98489741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.666000	0.68059	1.961000	0.56991	0.459000	0.35465	AAC			0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313595.1		NM_139057	
LOC653786	653786	broad.mit.edu	37	16	22579761	22579764	+	RNA	DEL	TGTT	TGTT	-	rs112473041		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	TGTT	TGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:22579761_22579764delTGTT	ENST00000550753.1	+	0	1976					NR_003676.2																						tgtgtgtgtgtgtttgtttgtTTT	0.505																																					.													.	.			0			.																																											0	.			TGTGTGTGTTTGT																													16.37:g.22579769_22579772delTGTT			Somatic	286	0	0		WXS	Illumina HiSeq	Phase_I	337	0.02	7	.	0		0		RNA	DEL	ENST00000550753.1	37																																																																																						0.505	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000409041.1			
USP31	57478	mdanderson.org	37	16	23083466	23083466	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:23083466G>T	ENST00000219689.7	-	15	2387	c.2388C>A	c.(2386-2388)agC>agA	p.S796R	USP31_ENST00000567975.1_Missense_Mutation_p.S89R	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGGCTGGCTTGCTGCCCGGGA	0.607																																					p.S796R													.	.			0			c.C2388A												64.0	66.0	65.0					16																	23083466		2197	4300	6497	SO:0001583	missense	57478	exon15			TGGCTTGCTGCCC	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2388C>A	16.37:g.23083466G>T	ENSP00000219689:p.Ser796Arg		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	54	0.06	3	NM_020718	12	0.00	0	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455623	0.84209	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.09911	2.93	5.84	3.57	0.40892	.	0.109437	0.64402	D	0.000012	T	0.30417	0.0764	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.996;0.999	T	0.05954	-1.0854	10	0.72032	D	0.01	-10.6022	12.6817	0.56926	0.1561:0.0:0.8439:0.0	.	99;796;89	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	R	796;99	ENSP00000219689:S796R	ENSP00000219689:S796R	S	-	3	2	USP31	22990967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.340000	0.65958	1.476000	0.48215	0.655000	0.94253	AGC			0.607	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211607.1		NM_020718	
RBBP6	5930	broad.mit.edu;bcgsc.ca	37	16	24567688	24567688	+	Frame_Shift_Del	DEL	C	C	-	rs147371757		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:24567688delC	ENST00000319715.4	+	7	1026	c.594delC	c.(592-594)ttcfs	p.F198fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.F198fs|RBBP6_ENST00000381039.3_Frame_Shift_Del_p.F198fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	198					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCAGAAGTTTCATGATGGAAG	0.368																																					p.F198fs													.	RBBP6	158		0			c.594delC												94.0	89.0	91.0					16																	24567688		2197	4300	6497	SO:0001589	frameshift_variant	5930	exon7			AAGTTTCATGATG		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.594delC	16.37:g.24567688delC	ENSP00000317872:p.Phe198fs		Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	72	0.11	8	NM_018703	41	0.12	5	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	CCDS10621.1																																																																																					0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214067.2		NM_006910	
PRRT2	112476	hgsc.bcm.edu	37	16	29825015	29825015	+	Missense_Mutation	SNP	G	G	C	rs587778771		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:29825015G>C	ENST00000358758.7	+	2	923	c.640G>C	c.(640-642)Gcc>Ccc	p.A214P	AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_Missense_Mutation_p.A214P|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000567551.1_3'UTR|AC009133.14_ENST00000569981.1_RNA|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.A214P	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.		A -> P. {ECO:0000269|PubMed:22101681}.	A -> AP (in Ref. 3; CAD38881). {ECO:0000305}.	neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A214P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGCCAATGGGGCCCCCCCCCG	0.652																																					p.A214P													PRRT2,caecum,carcinoma,0,2	PRRT2	0	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G640C												9.0	10.0	10.0					16																	29825015		2136	4217	6353	SO:0001583	missense	112476	exon2			AATGGGGCCCCCC	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.640G>C	16.37:g.29825015G>C	ENSP00000351608:p.Ala214Pro		Somatic	155	0.0129032258	2		WXS	Illumina HiSeq	.	202	0.04	8	NM_001256442	2	0.00	0	A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111804	0.56398	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.71579	-0.58;0.35	3.9	3.9	0.45041	.	0.132414	0.49305	D	0.000156	T	0.70631	0.3246	N	0.24115	0.695	0.30392	N	0.780872	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.989;0.983;0.992	T	0.65397	-0.6178	10	0.23302	T	0.38	-6.5746	11.6046	0.51024	0.0:0.0:1.0:0.0	.	214;214;214	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	P	214	ENSP00000351608:A214P;ENSP00000300797:A214P	ENSP00000300797:A214P	A	+	1	0	PRRT2	29732516	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.617000	0.54181	2.190000	0.69967	0.563000	0.77884	GCC			0.652	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255161.3		NM_145239	
KAT8	84148	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	31129017	31129017	+	Silent	SNP	A	A	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:31129017A>G	ENST00000543774.2	+	2	350	c.15A>G	c.(13-15)ggA>ggG	p.G5G	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000219797.4_Silent_p.G5G|KAT8_ENST00000448516.2_Silent_p.G5G			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	5					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CGGCACAGGGAGCTGCTGCGG	0.731																																					p.G5G													.	.			0			c.A15G												3.0	5.0	4.0					16																	31129017		1484	2756	4240	SO:0001819	synonymous_variant	84148	exon1			ACAGGGAGCTGCT	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.15A>G	16.37:g.31129017A>G			Somatic	58	0	0		WXS	Illumina HiSeq	.	54	0.22	12	NM_182958	2	0.00	0	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	CCDS10706.1																																																																																					0.731	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000255546.3		NM_032188	
DDX19B	11269	broad.mit.edu	37	16	70363771	70363771	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:70363771G>A	ENST00000288071.6	+	9	1068	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	DDX19B_ENST00000568625.1_Missense_Mutation_p.A166T|DDX19B_ENST00000563392.1_Missense_Mutation_p.A166T|DDX19B_ENST00000563206.1_Missense_Mutation_p.A280T|DDX19B_ENST00000451014.3_Missense_Mutation_p.A249T|DDX19B_ENST00000355992.3_Missense_Mutation_p.A244T|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000393657.2_Missense_Mutation_p.A166T	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	275	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCTTTTCTCCGCCACCTTTGA	0.572																																					p.A275T	Esophageal Squamous(26;382 757 1343 9728 15939)												.	DDX19B	31		0			c.G823A												75.0	74.0	75.0					16																	70363771		2198	4297	6495	SO:0001583	missense	11269	exon9			TTCTCCGCCACCT	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.823G>A	16.37:g.70363771G>A	ENSP00000288071:p.Ala275Thr		Somatic	194	0	0		WXS	Illumina HiSeq	Phase_I	252	0.02	5	NM_007242	84	0.00	0	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450269	0.96205	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.19	5.19	0.71726	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.979	T	0.83316	-0.0020	10	0.87932	D	0	-8.1352	16.2471	0.82449	0.0:0.0:1.0:0.0	.	249;244;275	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	T	249;244;166;275	ENSP00000392639:A249T;ENSP00000348271:A244T;ENSP00000377267:A166T;ENSP00000288071:A275T	ENSP00000288071:A275T	A	+	1	0	DDX19B	68921272	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.164000	0.94755	2.715000	0.92844	0.609000	0.83330	GCC			0.572	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268965.3		NM_007242	
HYDIN	54768	mdanderson.org	37	16	70954860	70954860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:70954860G>T	ENST00000393567.2	-	46	7569	c.7419C>A	c.(7417-7419)taC>taA	p.Y2473*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2473					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCGGTCCCAGTACATGAGGA	0.592																																					p.Y2473X													.	.			0			c.C7419A												20.0	20.0	20.0					16																	70954860		1966	4113	6079	SO:0001587	stop_gained	54768	exon46			GTCCCAGTACATG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7419C>A	16.37:g.70954860G>T	ENSP00000377197:p.Tyr2473*		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	59	0.05	3	NM_001270974	0		0	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	49	15.529045	0.99837	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.89	2.88	0.33553	.	0.671856	0.11212	U	0.587643	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7746	0.40612	0.1991:0.0:0.8009:0.0	.	.	.	.	X	2473;2472	.	ENSP00000313052:Y2472X	Y	-	3	2	HYDIN	69512361	0.864000	0.29904	0.651000	0.29564	0.940000	0.58332	1.126000	0.31344	0.389000	0.25086	0.609000	0.83330	TAC			0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000398624.3			
IL17C	27189	broad.mit.edu	37	16	88705614	88705614	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:88705614A>G	ENST00000244241.4	+	2	281	c.232A>G	c.(232-234)Agg>Ggg	p.R78G		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	78					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCACAGGGGGAGGCACGAGAG	0.687																																					p.R78G													.	IL17C	6		0			c.A232G												26.0	33.0	31.0					16																	88705614		2166	4275	6441	SO:0001583	missense	27189	exon2			AGGGGGAGGCACG	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.232A>G	16.37:g.88705614A>G	ENSP00000244241:p.Arg78Gly		Somatic	56	0.0178571429	1		WXS	Illumina HiSeq	Phase_I	67	0.04	3	NM_013278	0		0	Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205270	0.39003	.	.	ENSG00000124391	ENST00000244241	T	0.53857	0.6	4.81	-5.67	0.02444	.	1.357460	0.05661	N	0.586954	T	0.31638	0.0803	L	0.27053	0.805	0.09310	N	1	B	0.26400	0.148	B	0.24848	0.056	T	0.31558	-0.9939	10	0.59425	D	0.04	-2.8677	1.4532	0.02380	0.3776:0.2776:0.1909:0.1539	.	78	Q9P0M4	IL17C_HUMAN	G	78	ENSP00000244241:R78G	ENSP00000244241:R78G	R	+	1	2	IL17C	87233115	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.018000	0.03626	-0.454000	0.07066	-0.396000	0.06452	AGG			0.687	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422575.1		NM_013278	
ANKRD11	29123	broad.mit.edu	37	16	89346906	89346906	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:89346906T>G	ENST00000301030.4	-	9	6504	c.6044A>C	c.(6043-6045)tAc>tCc	p.Y2015S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y2015S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2015	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGGGGCGGGGTACGGCGCCTC	0.721																																					p.Y2015S													.	ANKRD11	195		0			c.A6044C																																									SO:0001583	missense	29123	exon9			GCGGGGTACGGCG	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6044A>C	16.37:g.89346906T>G	ENSP00000301030:p.Tyr2015Ser		Somatic	53	0.358490566	19		WXS	Illumina HiSeq	Phase_I	70	0.59	41	NM_001256183	114	0.11	12	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	t	13.45	2.242091	0.39598	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.41065	1.01;1.01	5.29	4.16	0.48862	.	0.171432	0.38778	N	0.001561	T	0.30386	0.0763	L	0.34521	1.04	0.80722	D	1	B	0.22800	0.075	B	0.17098	0.017	T	0.04991	-1.0913	10	0.25751	T	0.34	.	11.0477	0.47867	0.1395:0.0:0.0:0.8605	.	2015	Q6UB99	ANR11_HUMAN	S	2015	ENSP00000301030:Y2015S;ENSP00000367581:Y2015S	ENSP00000301030:Y2015S	Y	-	2	0	ANKRD11	87874407	1.000000	0.71417	0.977000	0.42913	0.023000	0.10783	4.288000	0.59007	0.795000	0.33922	0.370000	0.22315	TAC			0.721	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275	
SPG7	6687	mdanderson.org	37	16	89590464	89590464	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:89590464C>T	ENST00000268704.2	+	4	442	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	SPG7_ENST00000341316.2_Missense_Mutation_p.R143C	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	143					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AGAGCGGCTGCGCACCTTGCT	0.582																																					p.R143C													.	.			0			c.C427T												64.0	57.0	60.0					16																	89590464		2198	4300	6498	SO:0001583	missense	6687	exon4			CGGCTGCGCACCT	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.427C>T	16.37:g.89590464C>T	ENSP00000268704:p.Arg143Cys		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	48	0.08	4	NM_003119	106	0.00	0	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848836	0.71603	.	.	ENSG00000197912	ENST00000268704;ENST00000341316;ENST00000312632	D;D	0.94138	-3.16;-3.36	5.3	5.3	0.74995	Peptidase M41, FtsH (1);	0.000000	0.85682	D	0.000000	D	0.94085	0.8104	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.953	D	0.93097	0.6505	10	0.38643	T	0.18	-3.5062	14.1835	0.65590	0.1496:0.8504:0.0:0.0	.	143;143	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	C	143;143;120	ENSP00000268704:R143C;ENSP00000341157:R143C	ENSP00000268704:R143C	R	+	1	0	SPG7	88117965	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.718000	0.68455	2.637000	0.89404	0.561000	0.74099	CGC			0.582	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269921.2		NM_003119	
PSMD11	5717	broad.mit.edu	37	17	30771555	30771555	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:30771555C>T	ENST00000261712.3	+	1	277	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PSMD11_ENST00000457654.2_Missense_Mutation_p.A5V	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701																																					p.A5V	Ovarian(130;1038 1716 9294 11987 19279)												.	PSMD11	41		0			c.C14T												18.0	18.0	18.0					17																	30771555		2186	4270	6456	SO:0001583	missense	5717	exon1			CGGCGGCGGTGGT	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.14C>T	17.37:g.30771555C>T	ENSP00000261712:p.Ala5Val		Somatic	218	0.004587156	1		WXS	Illumina HiSeq	Phase_I	234	0.03	8	NM_002815	92	0.00	0	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999150	0.74818	.	.	ENSG00000108671	ENST00000261712	.	.	.	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.08118	0	0.53688	D	0.999975	P;B	0.37038	0.579;0.212	B;B	0.33392	0.163;0.049	T	0.08086	-1.0739	9	0.27785	T	0.31	-19.5166	11.4424	0.50105	0.0:0.9133:0.0:0.0867	.	5;5	B4DTS5;O00231	.;PSD11_HUMAN	V	5	.	ENSP00000261712:A5V	A	+	2	0	PSMD11	27795668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.945000	0.75947	1.455000	0.47813	0.558000	0.71614	GCG			0.701	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256252.2		NM_002815	
HEATR9	256957	mdanderson.org	37	17	34190002	34190002	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:34190002G>T	ENST00000311880.2	-	8	901	c.753C>A	c.(751-753)gaC>gaA	p.D251E	C17orf66_ENST00000587585.1_5'Flank|C17orf66_ENST00000592980.1_Missense_Mutation_p.D211E	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		251					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CAATCACCTTGTCTTTAGAGA	0.478																																					p.D251E													.	.			0			c.C753A												140.0	132.0	135.0					17																	34190002		2203	4300	6503	SO:0001583	missense	256957	exon8			CACCTTGTCTTTA																												ENST00000311880.2:c.753C>A	17.37:g.34190002G>T	ENSP00000309560:p.Asp251Glu		Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	101	0.05	5	NM_152781	0		0	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650168	0.47362	.	.	ENSG00000172653	ENST00000311880	T	0.46451	0.87	5.17	1.89	0.25635	Armadillo-like helical (1);Armadillo-type fold (1);	0.536026	0.17193	N	0.183410	T	0.20981	0.0505	L	0.29908	0.895	0.24560	N	0.993979	P;P;P	0.50156	0.932;0.884;0.888	B;B;B	0.40901	0.343;0.328;0.285	T	0.21109	-1.0255	10	0.02654	T	1	.	4.0758	0.09904	0.206:0.0:0.614:0.1799	.	217;211;251	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	E	251	ENSP00000309560:D251E	ENSP00000309560:D251E	D	-	3	2	C17orf66	31214115	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	0.230000	0.17852	0.261000	0.21753	-0.345000	0.07892	GAC			0.478	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256487.1			
ACLY	47	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	40028012	40028012	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:40028012G>A	ENST00000352035.2	-	25	2997	c.2867C>T	c.(2866-2868)cCc>cTc	p.P956L	ACLY_ENST00000393896.2_Missense_Mutation_p.P946L|ACLY_ENST00000588779.1_5'Flank|ACLY_ENST00000353196.1_Missense_Mutation_p.P946L|ACLY_ENST00000537919.1_Missense_Mutation_p.P685L|ACLY_ENST00000590151.1_Missense_Mutation_p.P956L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	956					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AAACTCCATGGGGATAATGCC	0.502																																					p.P956L	Colon(64;807 1396 15971 30971)												.	ACLY	85		0			c.C2867T												144.0	124.0	131.0					17																	40028012		2203	4300	6503	SO:0001583	missense	47	exon25			TCCATGGGGATAA	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2867C>T	17.37:g.40028012G>A	ENSP00000253792:p.Pro956Leu		Somatic	122	0.0081967213	1		WXS	Illumina HiSeq	Phase_I	155	0.17	26	NM_001096	186	0.26	48	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408799	0.96072	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89875	-1.62;-1.6;-2.58;-1.6	5.95	5.95	0.96441	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.098863	0.64402	D	0.000001	D	0.95345	0.8489	M	0.87971	2.92	0.80722	D	1	P;D;P;D;P	0.65815	0.801;0.995;0.936;0.99;0.801	B;P;B;D;B	0.66847	0.272;0.866;0.434;0.947;0.355	D	0.95260	0.8368	10	0.87932	D	0	.	20.3645	0.98876	0.0:0.0:1.0:0.0	.	685;1000;1010;946;956	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	956;1010;946;685;946	ENSP00000253792:P956L;ENSP00000345398:P946L;ENSP00000445349:P685L;ENSP00000377474:P946L	ENSP00000253792:P956L	P	-	2	0	ACLY	37281538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.543000	0.98089	2.821000	0.97095	0.561000	0.74099	CCC			0.502	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257465.1		NM_001096	
CDC27	996	mdanderson.org	37	17	45234325	45234325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:45234325G>A	ENST00000066544.3	-	7	889	c.796C>T	c.(796-798)Cga>Tga	p.R266*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.R205*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATAAACTTCGACCAGTTTTT	0.363																																					p.R266X													.	.			0			c.C796T												60.0	65.0	63.0					17																	45234325		2200	4295	6495	SO:0001587	stop_gained	996	exon7			AACTTCGACCAGT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.796C>T	17.37:g.45234325G>A	ENSP00000066544:p.Arg266*		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_001114091	33	0.00	0	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117088	0.77323	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.64	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5002	13.5956	0.61987	0.0:0.0:0.8433:0.1567	.	.	.	.	X	266;266;205;266;266	.	ENSP00000066544:R266X	R	-	1	2	CDC27	42589324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.123000	0.71614	1.354000	0.45846	0.460000	0.39030	CGA			0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2			
MRPL45P2	653479	broad.mit.edu	37	17	45560579	45560579	+	RNA	DEL	C	C	-	rs114562440		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:45560579delC	ENST00000575291.1	-	0	507									mitochondrial ribosomal protein L45 pseudogene 2																		ttttttttttcttttttttga	0.443																																					.													.	.			0			.																																											0	.			TTTTTTCTTTTTT			17q21.32	2010-09-29				ENSG00000228782			29716	pseudogene	pseudogene						12706105	Standard	NR_033934		Approved		uc002ilq.3				17.37:g.45560579delC			Somatic	186	0	0		WXS	Illumina HiSeq	Phase_I	237	0.03	7	.	0		0		RNA	DEL	ENST00000575291.1	37																																																																																						0.443	MRPL45P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000441112.1		NR_033934	
UTP18	51096	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	49338191	49338191	+	Silent	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:49338191G>A	ENST00000225298.7	+	1	303	c.246G>A	c.(244-246)gaG>gaA	p.E82E	MBTD1_ENST00000376381.2_5'Flank|MBTD1_ENST00000586178.1_5'Flank	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	82					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GGCTGGAGGAGGACAAACCGG	0.721																																					p.E82E													.	.			0			c.G246A												9.0	13.0	12.0					17																	49338191		1878	4056	5934	SO:0001819	synonymous_variant	51096	exon1			GGAGGAGGACAAA	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.246G>A	17.37:g.49338191G>A			Somatic	123	0	0		WXS	Illumina HiSeq	.	174	0.18	31	NM_016001	70	0.21	15	Q9H4N6	Silent	SNP	ENST00000225298.7	37	CCDS42362.1																																																																																					0.721	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368654.1		NM_016001	
SLC16A6P1	440459	broad.mit.edu	37	17	62949617	62949620	+	lincRNA	DEL	AAAA	AAAA	-	rs61490206|rs10617727|rs386386414|rs12603137		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	AAAA	AAAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:62949617_62949620delAAAA	ENST00000583416.1	+	0	4948				SLC16A6P1_ENST00000577423.1_RNA																							actccatctcaaaaaaaaaaaaaa	0.392																																					.													.	.			0			.																																											0	.			CATCTCAAAAAAA																													17.37:g.62949625_62949628delAAAA			Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	4	0.00	0		RNA	DEL	ENST00000583416.1	37																																																																																						0.392	RP11-583F2.2-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000445719.1			
TMC6	11322	broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	76117157	76117157	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:76117157C>T	ENST00000590602.1	-	12	1631	c.1472G>A	c.(1471-1473)cGt>cAt	p.R491H	TMC6_ENST00000591436.1_Missense_Mutation_p.R130H|TMC6_ENST00000589553.1_Missense_Mutation_p.R264H|TMC6_ENST00000322933.4_Missense_Mutation_p.R130H|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.R491H|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.R491H			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	491					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGCCAGGACACGGCACAGGTA	0.657																																					p.R491H													.	TMC6	42		0			c.G1472A												33.0	32.0	32.0					17																	76117157		2203	4300	6503	SO:0001583	missense	11322	exon12			AGGACACGGCACA	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1472G>A	17.37:g.76117157C>T	ENSP00000465261:p.Arg491His		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	82	0.07	6	NM_001127198	87	0.00	0	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704287	0.30232	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71698	0.73;0.73;-0.59	3.93	2.87	0.33458	.	0.348546	0.28946	N	0.013629	T	0.64951	0.2645	L	0.43152	1.355	0.25088	N	0.990875	B;D;B;B	0.65815	0.121;0.995;0.322;0.016	B;P;B;B	0.52710	0.017;0.707;0.023;0.006	T	0.56056	-0.8042	10	0.38643	T	0.18	-14.6557	3.5014	0.07674	0.0:0.6047:0.0:0.3953	.	264;491;491;130	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	H	491;491;130	ENSP00000313408:R491H;ENSP00000376260:R491H;ENSP00000313479:R130H	ENSP00000313408:R491H	R	-	2	0	TMC6	73628752	0.731000	0.28111	0.880000	0.34516	0.374000	0.29953	1.100000	0.31025	2.010000	0.58986	0.462000	0.41574	CGT			0.657	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437146.1			
MUC16	94025	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	9048471	9048471	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:9048471T>C	ENST00000397910.4	-	5	33363	c.33160A>G	c.(33160-33162)Agt>Ggt	p.S11054G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11056	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATACTTGTACTGTTTACTCCA	0.502																																					p.S11054G													.	MUC16	4315		0			c.A33160G												90.0	81.0	84.0					19																	9048471		1906	4134	6040	SO:0001583	missense	94025	exon5			TTGTACTGTTTAC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33160A>G	19.37:g.9048471T>C	ENSP00000381008:p.Ser11054Gly		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	76	0.08	6	NM_024690	0		0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.197	0.035308	0.08148	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.75	-0.814	0.10846	.	.	.	.	.	T	0.03434	0.0099	M	0.65498	2.005	.	.	.	B	0.02656	0.0	B	0.08055	0.003	T	0.44817	-0.9303	8	0.87932	D	0	.	0.5026	0.00582	0.21:0.1346:0.2159:0.4395	.	11054	B5ME49	.	G	11054	ENSP00000381008:S11054G	ENSP00000381008:S11054G	S	-	1	0	MUC16	8909471	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.571000	0.23669	-0.297000	0.08934	-0.860000	0.03012	AGT			0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690	
ALKBH6	84964	broad.mit.edu	37	19	36501930	36501930	+	Silent	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:36501930G>T	ENST00000252984.7	-	6	354	c.202C>A	c.(202-204)Cga>Aga	p.R68R	SYNE4_ENST00000340477.5_5'Flank|ALKBH6_ENST00000486389.1_Silent_p.R45R|ALKBH6_ENST00000378875.3_Silent_p.R96R|ALKBH6_ENST00000495116.2_Intron|SYNE4_ENST00000324444.3_5'Flank|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_Silent_p.R68R			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	68						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCATCCCTCGGGGATGAGGA	0.602																																					p.R96R													.	ALKBH6	16		0			c.C286A												27.0	24.0	25.0					19																	36501930		2203	4299	6502	SO:0001819	synonymous_variant	84964	exon5			TCCCTCGGGGATG	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.202C>A	19.37:g.36501930G>T			Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	120	0.03	3	NM_198867	112	0.00	0	A5LGM8|A6NLP1|A8MU96	Silent	SNP	ENST00000252984.7	37																																																																																						0.602	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000109531.4		NM_032878	
MAMSTR	284358	broad.mit.edu	37	19	49218600	49218600	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:49218600T>G	ENST00000318083.6	-	5	407	c.344A>C	c.(343-345)gAc>gCc	p.D115A	MAMSTR_ENST00000594582.1_Missense_Mutation_p.D12A|MAMSTR_ENST00000356751.4_Missense_Mutation_p.D12A|MAMSTR_ENST00000419611.1_Missense_Mutation_p.D12A|MAMSTR_ENST00000377367.3_Missense_Mutation_p.D12A			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	115	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						GGCTTGGGGGTCCGCCCTGGA	0.622																																					p.D115A													.	MAMSTR	36		0			c.A344C												19.0	25.0	23.0					19																	49218600		2153	4251	6404	SO:0001583	missense	284358	exon5			TGGGGGTCCGCCC	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.344A>C	19.37:g.49218600T>G	ENSP00000324175:p.Asp115Ala		Somatic	99	0.0707070707	7		WXS	Illumina HiSeq	Phase_I	143	0.15	22	NM_001130915	3	0.00	0	B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	T	6.027	0.373392	0.11409	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	3.6	1.46	0.22682	.	0.521210	0.15792	N	0.244404	T	0.23370	0.0565	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.16988	-1.0384	9	0.20519	T	0.43	-1.6333	3.8888	0.09110	0.0:0.1165:0.2164:0.6672	.	115	Q6ZN01	MASTR_HUMAN	A	115;12;12;12	.	ENSP00000324175:D115A	D	-	2	0	MAMSTR	53910412	0.016000	0.18221	0.004000	0.12327	0.081000	0.17604	0.515000	0.22801	0.239000	0.21243	-0.432000	0.05891	GAC			0.622	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466179.1		NM_182574	
LENG9	94059	mdanderson.org	37	19	54974333	54974333	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:54974333C>T	ENST00000333834.4	-	1	561	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	148							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCGGAAGAAGCGCACGCGGTG	0.721																																					p.R148H													.	.			0			c.G443A												6.0	7.0	7.0					19																	54974333		2095	4163	6258	SO:0001583	missense	94059	exon1			AAGAAGCGCACGC	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.443G>A	19.37:g.54974333C>T	ENSP00000331647:p.Arg148His		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	14	0.14	2	NM_198988	4	0.00	0	B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734208	0.48939	.	.	ENSG00000182909	ENST00000333834	T	0.32272	1.46	3.75	3.75	0.43078	.	0.249826	0.35320	U	0.003293	T	0.48696	0.1514	M	0.76574	2.34	0.35152	D	0.769891	D	0.89917	1.0	D	0.75020	0.985	T	0.58544	-0.7618	10	0.34782	T	0.22	-23.2288	7.5425	0.27746	0.0:0.8785:0.0:0.1215	.	148	Q96B70	LENG9_HUMAN	H	148	ENSP00000331647:R148H	ENSP00000331647:R148H	R	-	2	0	LENG9	59666145	1.000000	0.71417	0.885000	0.34714	0.004000	0.04260	1.855000	0.39378	1.823000	0.53134	0.555000	0.69702	CGC			0.721	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000140806.3		NM_198988	
ZNF814	730051	bcgsc.ca;mdanderson.org	37	19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCACATTCATAAGGTCTTTTC	0.358																																					p.Y324H													.	ZNF814	93		0			c.T970C												15.0	12.0	13.0					19																	58385788		688	1564	2252	SO:0001583	missense	730051	exon3			ATTCATAAGGTCT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_1	180	0.04	7	NM_001144989	11	0.00	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT			0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708	
APOB	338	broad.mit.edu	37	2	21255321	21255321	+	Silent	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:21255321G>T	ENST00000233242.1	-	10	1384	c.1257C>A	c.(1255-1257)ccC>ccA	p.P419P	APOB_ENST00000399256.4_Silent_p.P419P	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	419	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGGGCTCGGGGATCAGGG	0.597																																					p.P419P													.	APOB	761		0			c.C1257A												84.0	75.0	78.0					2																	21255321		2203	4300	6503	SO:0001819	synonymous_variant	338	exon10			GGGCTCGGGGATC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1257C>A	2.37:g.21255321G>T			Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	70	0.04	3	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																					0.597	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1			
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					p.137_138del	Colon(162;2388 2567 2705 3444)												.	EIF5B	95		0			c.411_413del																																									SO:0001651	inframe_deletion	9669	exon4			TGGGAGTGATGAT	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del		Somatic	136	0	0		WXS	Illumina HiSeq	Phase_I	163	0.04	7	NM_015904	94	0.00	0	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	CCDS42721.1																																																																																					0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330364.2		NM_015904	
CFAP221	200373	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	120362541	120362541	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:120362541G>T	ENST00000413369.3	+	10	1089	c.1002G>T	c.(1000-1002)ttG>ttT	p.L334F	PCDP1_ENST00000602047.1_Missense_Mutation_p.L48F|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CAGGAAAATTGAAGATTAAAG	0.393																																					p.L334F													.	.			0			c.G1002T												61.0	71.0	67.0					2																	120362541		2202	4300	6502	SO:0001583	missense	0	exon10			AAAATTGAAGATT																												ENST00000413369.3:c.1002G>T	2.37:g.120362541G>T	ENSP00000393222:p.Leu334Phe		Somatic	85	0.0117647059	1		WXS	Illumina HiSeq	Phase_I	110	0.17	19	NM_001271049	1	0.00	0		Missense_Mutation	SNP	ENST00000413369.3	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888376	0.72524	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20463	2.07	5.84	1.96	0.26148	.	0.150419	0.28659	N	0.014575	T	0.30885	0.0779	L	0.49778	1.585	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.62298	0.9;0.868	T	0.03017	-1.1082	10	0.72032	D	0.01	-6.137	5.8937	0.18927	0.2854:0.1271:0.5875:0.0	.	178;334	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	F	48;334	ENSP00000393222:L334F	ENSP00000295220:L48F	L	+	3	2	AC069154.2	120079011	1.000000	0.71417	0.928000	0.36995	0.973000	0.67179	1.418000	0.34782	0.366000	0.24427	0.655000	0.94253	TTG			0.393	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464236.1			
THSD7B	80731	broad.mit.edu;mdanderson.org	37	2	137872842	137872842	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:137872842G>T	ENST00000409968.1	+	5	1526	c.1348G>T	c.(1348-1350)Gcc>Tcc	p.A450S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.A419S|THSD7B_ENST00000272643.3_Missense_Mutation_p.A450S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	450	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACCAGCAGCTGCCGCACTGAG	0.602																																					.													.	THSD7B	506		0			.												21.0	26.0	24.0					2																	137872842		2002	4178	6180	SO:0001583	missense	80731	.			GCAGCTGCCGCAC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1348G>T	2.37:g.137872842G>T	ENSP00000387145:p.Ala450Ser		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	76	0.05	4	.	0		0		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	2.265	-0.368381	0.05069	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.21543	2.52;2.39;2.0	4.88	0.516	0.17019	.	0.795208	0.11871	N	0.521490	T	0.03477	0.0100	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42413	-0.9453	10	0.08381	T	0.77	.	3.2618	0.06851	0.3697:0.0:0.382:0.2483	.	450;419	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	450;450;419	ENSP00000387145:A450S;ENSP00000272643:A450S;ENSP00000413841:A419S	ENSP00000272643:A450S	A	+	1	0	THSD7B	137589312	0.000000	0.05858	0.017000	0.16124	0.026000	0.11368	-0.579000	0.05834	0.330000	0.23485	0.655000	0.94253	GCC			0.602	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000331769.2		XM_046570.9	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179599514	179599514	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:179599514A>G	ENST00000591111.1	-	49	14410	c.14186T>C	c.(14185-14187)gTt>gCt	p.V4729A	TTN_ENST00000342992.6_Missense_Mutation_p.V3802A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V5046A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12109	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTCTTCAACTTTTACATC	0.368																																					p.V5046A													.	.			0			c.T15137C												139.0	134.0	136.0					2																	179599514		1885	4115	6000	SO:0001583	missense	7273	exon51			TCTTCAACTTTTA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14186T>C	2.37:g.179599514A>G	ENSP00000465570:p.Val4729Ala		Somatic	289	0	0		WXS	Illumina HiSeq	.	240	0.14	33	NM_001267550	0		0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	11.66	1.704487	0.30232	.	.	ENSG00000155657	ENST00000342992	T	0.40476	1.03	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39489	0.1080	L	0.31664	0.95	0.80722	D	1	P	0.48407	0.91	P	0.45071	0.468	T	0.34950	-0.9808	9	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	4729	Q8WZ42	TITIN_HUMAN	A	3802	ENSP00000343764:V3802A	ENSP00000343764:V3802A	V	-	2	0	TTN	179307759	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	6.062000	0.71155	2.246000	0.74042	0.533000	0.62120	GTT			0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378	
SLC4A3	6508	mdanderson.org	37	2	220505587	220505587	+	Missense_Mutation	SNP	C	C	T	rs564171002		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:220505587C>T	ENST00000358055.3	+	22	4036	c.3524C>T	c.(3523-3525)aCg>aTg	p.T1175M	SLC4A3_ENST00000273063.6_Missense_Mutation_p.T1202M|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T1202M|SLC4A3_ENST00000317151.3_Missense_Mutation_p.T1175M|SLC4A3_ENST00000373760.2_Missense_Mutation_p.T1175M			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1175	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCAAGTCCACGGCGGCCTCA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18493	0.0		0.001	False		,,,				2504	0.0				p.T1202M													.	.			0			c.C3605T												66.0	54.0	58.0					2																	220505587		2203	4300	6503	SO:0001583	missense	6508	exon22			AGTCCACGGCGGC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3524C>T	2.37:g.220505587C>T	ENSP00000350756:p.Thr1175Met		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	54	0.06	3	NM_201574	49	0.00	0	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841579	0.91197	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	4.83	4.83	0.62350	.	0.056267	0.64402	D	0.000001	D	0.86598	0.5971	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.944;0.985;0.988	D	0.90464	0.4448	10	0.87932	D	0	.	18.3098	0.90195	0.0:1.0:0.0:0.0	.	879;1175;1202	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	M	1175;1175;1202;1202;1175	ENSP00000350756:T1175M;ENSP00000362865:T1175M;ENSP00000273063:T1202M;ENSP00000362867:T1202M;ENSP00000314006:T1175M	ENSP00000273063:T1202M	T	+	2	0	SLC4A3	220213831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.396000	0.81511	0.563000	0.77884	ACG			0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316472.1		NM_005070	
Unknown	0	bcgsc.ca	37	20	6195658	6195658	+	IGR	SNP	C	C	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr20:6195658C>T								FERMT1 (91467 upstream) : AL109618.1 (13782 downstream)																							ACCTTATATGCCCCCTCCAAC	0.393																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TATATGCCCCCTC																													20.37:g.6195658C>T			Somatic	177	0	0		WXS	Illumina HiSeq	Phase_1	169	0.15	26	.	1	0.00	0		RNA	SNP		37																																																																																					0	0.393										
FRG1B	284802	bcgsc.ca	37	20	29628233	29628233	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr20:29628233A>G	ENST00000278882.3	+	6	615	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	FRG1B_ENST00000439954.2_Missense_Mutation_p.M84V|FRG1B_ENST00000358464.4_Missense_Mutation_p.M79V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	79										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAGGGGAAAATGGCTTTGTT	0.363																																					.													.	FRG1B	181		0			.																																									SO:0001583	missense	284802	.			GGGAAAATGGCTT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.235A>G	20.37:g.29628233A>G	ENSP00000278882:p.Met79Val		Somatic	441	0.0068027211	3		WXS	Illumina HiSeq	Phase_1	562	0.02	13	.	132	0.00	0	C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	a	3.138	-0.176853	0.06380	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.41065	1.01	2.08	2.08	0.27032	Actin cross-linking (1);	0.040228	0.85682	D	0.000000	T	0.23370	0.0565	.	.	.	0.41063	D	0.985397	B;B	0.17852	0.002;0.024	B;B	0.25140	0.03;0.058	T	0.04593	-1.0940	9	0.11794	T	0.64	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	84;79	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	79;84;79	ENSP00000408863:M84V	ENSP00000278882:M79V	M	+	1	0	FRG1B	28241894	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	4.813000	0.62620	1.208000	0.43306	0.347000	0.21830	ATG			0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000078494.2		NR_003579	
STAU1	6780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	47782664	47782664	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr20:47782664C>G	ENST00000371856.2	-	3	485	c.75G>C	c.(73-75)caG>caC	p.Q25H	STAU1_ENST00000360426.4_Intron|STAU1_ENST00000371792.1_Intron|STAU1_ENST00000371802.1_Intron|STAU1_ENST00000347458.5_Intron|STAU1_ENST00000340954.7_Intron|STAU1_ENST00000371828.3_Intron	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	25					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGAGAAGAGACTGGTTCTTGT	0.443																																					p.Q25H													.	.			0			c.G75C												201.0	196.0	198.0					20																	47782664		2203	4300	6503	SO:0001583	missense	6780	exon3			AAGAGACTGGTTC		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.75G>C	20.37:g.47782664C>G	ENSP00000360922:p.Gln25His		Somatic	113	0	0		WXS	Illumina HiSeq	.	139	0.20	28	NM_017453	10	0.30	3	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793654	0.50102	.	.	ENSG00000124214	ENST00000371856	T	0.35973	1.28	5.88	4.94	0.65067	.	0.245758	0.38897	N	0.001537	T	0.19725	0.0474	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08617	-1.0713	10	0.02654	T	1	-0.1189	7.6793	0.28505	0.1623:0.7557:0.0:0.082	.	25	O95793	STAU1_HUMAN	H	25	ENSP00000360922:Q25H	ENSP00000360922:Q25H	Q	-	3	2	STAU1	47216071	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.024000	0.30077	1.499000	0.48617	0.655000	0.94253	CAG			0.443	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079633.1		NM_017453	
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	60899145	60899145	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr20:60899145G>A	ENST00000252999.3	-	43	5825	c.5759C>T	c.(5758-5760)cCt>cTt	p.P1920L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1920	Laminin EGF-like 18. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTTGTTGGAAGGCACTGAGAG	0.687																																					p.P1920L													.	.			0			c.C5759T												19.0	21.0	21.0					20																	60899145		2183	4249	6432	SO:0001583	missense	3911	exon43			TTGGAAGGCACTG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5759C>T	20.37:g.60899145G>A	ENSP00000252999:p.Pro1920Leu		Somatic	79	0	0		WXS	Illumina HiSeq	.	82	0.12	10	NM_005560	35	0.23	8	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335080	0.81801	.	.	ENSG00000130702	ENST00000252999	T	0.61040	0.14	4.05	4.05	0.47172	EGF-like, laminin (3);	0.306614	0.35291	U	0.003317	T	0.74007	0.3660	M	0.82056	2.57	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	T	0.78425	-0.2209	10	0.56958	D	0.05	.	14.3513	0.66705	0.0:0.0:1.0:0.0	.	1920	O15230	LAMA5_HUMAN	L	1920	ENSP00000252999:P1920L	ENSP00000252999:P1920L	P	-	2	0	LAMA5	60332540	1.000000	0.71417	0.686000	0.30086	0.839000	0.47603	5.281000	0.65609	1.777000	0.52277	0.478000	0.44815	CCT			0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560	
BAGE2	85319	broad.mit.edu	37	21	11058732	11058733	+	RNA	DEL	TT	TT	-	rs140338160		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr21:11058732_11058733delTT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATATTACTATTTTTTACCCTG	0.257																																					.													.	.			0			.																																											85319	.			TTACTATTTTTTA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058736_11058737delTT			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	8	0.38	3	.	0		0	A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.257	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157417.3		NM_182482	
KRTAP10-10	353333	mdanderson.org	37	21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	rs142158982	byFrequency	TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																					p.V234M													.	.			0			c.G700A							G	,MET/VAL	54,4352		0,54,2149	54.0	58.0	57.0		,700	-2.9	0.0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333	exon1			CGCCCCGTGTGCT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met		Somatic	77	0.012987013	1		WXS	Illumina HiSeq	Phase_I	111	0.10	11	NM_181688	0		0		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG			0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688	
TTC38	55020	mdanderson.org	37	22	46664415	46664415	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr22:46664415G>T	ENST00000381031.3	+	2	114	c.38G>T	c.(37-39)tGg>tTg	p.W13L	TTC38_ENST00000445282.2_Missense_Mutation_p.W13L	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	13						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CTGTAGGCCTGGAAGGATGCG	0.607																																					p.W13L													.	.			0			c.G38T												41.0	50.0	47.0					22																	46664415		2184	4277	6461	SO:0001583	missense	55020	exon2			AGGCCTGGAAGGA		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.38G>T	22.37:g.46664415G>T	ENSP00000370419:p.Trp13Leu		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_017931	0		0	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997824	0.93227	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	D;D;D	0.82619	-1.63;-1.63;-1.63	4.98	4.98	0.66077	.	0.116065	0.64402	D	0.000006	D	0.91737	0.7387	M	0.84511	2.7	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91535	0.5245	10	0.40728	T	0.16	-2.0886	17.6027	0.88029	0.0:0.0:1.0:0.0	.	13;13	E7ES35;Q5R3I4	.;TTC38_HUMAN	L	13	ENSP00000370419:W13L;ENSP00000393960:W13L;ENSP00000410095:W13L	ENSP00000370419:W13L	W	+	2	0	TTC38	45043079	1.000000	0.71417	0.997000	0.53966	0.852000	0.48524	8.694000	0.91293	2.451000	0.82905	0.561000	0.74099	TGG			0.607	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000318469.1		NM_017931	
CELSR1	9620	mdanderson.org	37	22	46765695	46765695	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr22:46765695G>T	ENST00000262738.3	-	26	7765	c.7766C>A	c.(7765-7767)gCg>gAg	p.A2589E		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2589					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGGCCGACCGCCAGTCCTGA	0.657																																					p.A2589E													.	.			0			c.C7766A												38.0	38.0	38.0					22																	46765695		2202	4300	6502	SO:0001583	missense	9620	exon26			CCGACCGCCAGTC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7766C>A	22.37:g.46765695G>T	ENSP00000262738:p.Ala2589Glu		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_014246	19	0.00	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375756	0.82682	.	.	ENSG00000075275	ENST00000262738	T	0.45276	0.9	4.31	4.31	0.51392	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000003	T	0.73313	0.3571	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82649	-0.0353	10	0.87932	D	0	.	16.7527	0.85490	0.0:0.0:1.0:0.0	.	2589	Q9NYQ6	CELR1_HUMAN	E	2589	ENSP00000262738:A2589E	ENSP00000262738:A2589E	A	-	2	0	CELSR1	45144359	1.000000	0.71417	0.451000	0.26982	0.533000	0.34776	7.596000	0.82721	2.096000	0.63516	0.591000	0.81541	GCG			0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246	
PHLDB2	90102	broad.mit.edu;bcgsc.ca	37	3	111667853	111667858	+	In_Frame_Del	DEL	TGCTGA	TGCTGA	-			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	TGCTGA	TGCTGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:111667853_111667858delTGCTGA	ENST00000431670.2	+	10	2973_2978	c.2562_2567delTGCTGA	c.(2560-2568)cctgctgat>cct	p.AD857del	PHLDB2_ENST00000393925.3_In_Frame_Del_p.AD857del|PHLDB2_ENST00000393923.3_In_Frame_Del_p.AD841del|PHLDB2_ENST00000481953.1_In_Frame_Del_p.AD814del|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000412622.1_In_Frame_Del_p.AD814del	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	857						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCAGTTTCCTGCTGATGCTGATGCT	0.471																																					p.854_856del													.	PHLDB2	449		0			c.2562_2567del																																									SO:0001651	inframe_deletion	90102	exon10			GTTTCCTGCTGAT		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2562_2567delTGCTGA	3.37:g.111667859_111667864delTGCTGA	ENSP00000405405:p.Ala857_Asp858del		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	108	0.06	7	NM_001134439	8	0.00	0	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	In_Frame_Del	DEL	ENST00000431670.2	37	CCDS46886.1																																																																																					0.471	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354337.1		NM_145753	
POPDC2	64091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	119378799	119378799	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:119378799A>C	ENST00000264231.3	-	1	638	c.472T>G	c.(472-474)Tcc>Gcc	p.S158A	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.S158A|POPDC2_ENST00000538678.1_Missense_Mutation_p.S158A|POPDC2_ENST00000493094.1_Missense_Mutation_p.S158A	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	158					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGCAGCAGGGACAGGCGGTTG	0.517																																					p.S158A													.	.			0			c.T472G												112.0	114.0	113.0					3																	119378799		2203	4300	6503	SO:0001583	missense	64091	exon1			GCAGGGACAGGCG	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.472T>G	3.37:g.119378799A>C	ENSP00000264231:p.Ser158Ala		Somatic	113	0	0		WXS	Illumina HiSeq	.	114	0.10	11	NM_022135	1	0.00	0	Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512063	0.85389	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.69	5.69	0.88448	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.69135	-0.5225	10	0.66056	D	0.02	.	15.9315	0.79663	1.0:0.0:0.0:0.0	.	158;158	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	A	158	ENSP00000264231:S158A;ENSP00000417250:S158A;ENSP00000420715:S158A;ENSP00000438271:S158A	ENSP00000264231:S158A	S	-	1	0	POPDC2	120861489	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.335000	0.96500	2.162000	0.67917	0.533000	0.62120	TCC			0.517	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000355378.1		NM_022135	
COL6A5	256076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	130110226	130110226	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:130110226G>C	ENST00000432398.2	+	7	3115	c.2621G>C	c.(2620-2622)aGa>aCa	p.R874T	COL6A5_ENST00000265379.6_Missense_Mutation_p.R874T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	874	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACTCGAACAGATCAGCAATA	0.478																																					p.R874T													COL6A5,NS,carcinoma,+1,1	COL6A5	1	1	0			c.G2621C												119.0	92.0	100.0					3																	130110226		692	1591	2283	SO:0001583	missense	256076	exon7			CGAACAGATCAGC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2621G>C	3.37:g.130110226G>C	ENSP00000390895:p.Arg874Thr		Somatic	414	0	0		WXS	Illumina HiSeq	.	475	0.19	88	NM_153264	0		0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	12.28	1.889491	0.33348	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82526	-1.62;-1.62	5.72	0.922	0.19408	.	.	.	.	.	T	0.80003	0.4544	L	0.35793	1.09	0.09310	N	1	P	0.36392	0.551	P	0.47044	0.535	T	0.68591	-0.5368	9	0.37606	T	0.19	.	8.7209	0.34441	0.5432:0.0:0.4568:0.0	.	874	A8TX70-2	.	T	874	ENSP00000390895:R874T;ENSP00000265379:R874T	ENSP00000265379:R874T	R	+	2	0	COL6A5	131592916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.441000	0.21611	0.225000	0.20959	0.655000	0.94253	AGA			0.478	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_153264	
IL12A-AS1	101928376	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	159818881	159818881	+	RNA	SNP	C	C	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:159818881C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		ggggagaaaacggagaagagt	0.458																																					.													.	.			0			.																																											0	.			AGAAAACGGAGAA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818881C>T			Somatic	160	0	0		WXS	Illumina HiSeq	Phase_I	188	0.14	27	.	48	0.02	1		RNA	SNP	ENST00000497452.1	37																																																																																						0.458	IL12A-AS1-001	KNOWN	basic	antisense	antisense		OTTHUMT00000352647.1			
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.E545K	Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA_ENST00000263967,NS,carcinoma,0,1370	PIK3CA_ENST00000263967	0	1370	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	c.G1633A												61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290	exon10			ATCACTGAGCAGG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Somatic	425	0	0		WXS	Illumina HiSeq	.	461	0.11	50	NM_006218	15	0.13	2	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG			0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000348409.2			
SLIT2	9353	mdanderson.org	37	4	20255518	20255518	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr4:20255518C>T	ENST00000504154.1	+	1	332	c.80C>T	c.(79-81)gCg>gTg	p.A27V	SLIT2_ENST00000503837.1_Missense_Mutation_p.A27V|SLIT2_ENST00000503823.1_Missense_Mutation_p.A27V|SLIT2_ENST00000273739.5_Missense_Mutation_p.A27V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	27					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCACCGCAGGCGTGCCCGGCG	0.672																																					p.A27V													.	.			0			c.C80T												94.0	74.0	81.0					4																	20255518		2203	4299	6502	SO:0001583	missense	9353	exon1			CGCAGGCGTGCCC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.80C>T	4.37:g.20255518C>T	ENSP00000422591:p.Ala27Val		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	24	0.08	2	NM_004787	0		0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205256	0.79127	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	3.85	3.85	0.44370	Leucine-rich repeat-containing N-terminal (2);	0.211314	0.40222	N	0.001154	D	0.95586	0.8565	M	0.62266	1.93	0.34322	D	0.686746	D;P	0.53885	0.963;0.808	P;B	0.46452	0.517;0.38	D	0.98487	1.0608	10	0.51188	T	0.08	.	15.8964	0.79338	0.0:1.0:0.0:0.0	.	27;27	O94813-3;O94813	.;SLIT2_HUMAN	V	27	ENSP00000427548:A27V;ENSP00000422591:A27V;ENSP00000273739:A27V;ENSP00000422261:A27V	ENSP00000273739:A27V	A	+	2	0	SLIT2	19864616	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.218000	0.65257	2.130000	0.65690	0.313000	0.20887	GCG			0.672	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250396.2			
HMMR	3161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	162909769	162909769	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr5:162909769G>A	ENST00000358715.3	+	13	1540	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	HMMR_ENST00000393915.4_Missense_Mutation_p.E503K|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.E416K|HMMR_ENST00000353866.3_Missense_Mutation_p.E487K|RP11-80G7.1_ENST00000521666.1_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	502					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTTGGCAACTGAGAGCTCAAA	0.393																																					p.E503K													.	.			0			c.G1507A												79.0	79.0	79.0					5																	162909769		2203	4300	6503	SO:0001583	missense	3161	exon13			GCAACTGAGAGCT	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1504G>A	5.37:g.162909769G>A	ENSP00000351554:p.Glu502Lys		Somatic	344	0	0		WXS	Illumina HiSeq	.	306	0.21	63	NM_001142556	19	0.47	9	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681569	0.68042	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	5.43	3.57	0.40892	.	0.431784	0.26023	N	0.026813	T	0.14874	0.0359	L	0.57536	1.79	0.28604	N	0.909017	D;D;D;D	0.59767	0.984;0.986;0.957;0.957	P;P;P;P	0.54965	0.765;0.73;0.689;0.689	T	0.03945	-1.0990	10	0.23891	T	0.37	-14.269	8.7634	0.34689	0.08:0.1503:0.7697:0.0	.	416;503;487;502	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	K	388;487;503;479;416;502	ENSP00000400527:E388K;ENSP00000185942:E487K;ENSP00000377492:E503K;ENSP00000402673:E416K;ENSP00000351554:E502K	ENSP00000185942:E487K	E	+	1	0	HMMR	162842347	0.992000	0.36948	0.755000	0.31263	0.603000	0.37013	2.728000	0.47319	1.506000	0.48736	0.650000	0.86243	GAG			0.393	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000252752.1		NM_012484	
FOXQ1	94234	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	1313401	1313401	+	Silent	SNP	C	C	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr6:1313401C>G	ENST00000296839.2	+	1	727	c.462C>G	c.(460-462)ccC>ccG	p.P154P		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	154					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAAGTTCCCCTTTTTCCGCG	0.652																																					p.P154P													.	.			0			c.C462G												39.0	40.0	40.0					6																	1313401		2199	4293	6492	SO:0001819	synonymous_variant	94234	exon1			GTTCCCCTTTTTC	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.462C>G	6.37:g.1313401C>G			Somatic	75	0	0		WXS	Illumina HiSeq	.	106	0.15	16	NM_033260	0		0	Q9NS06	Silent	SNP	ENST00000296839.2	37	CCDS4471.1																																																																																					0.652	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043410.1		NM_033260	
LRRC16A	55604	mdanderson.org	37	6	25509914	25509914	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr6:25509914G>T	ENST00000329474.6	+	18	1794	c.1426G>T	c.(1426-1428)Ggt>Tgt	p.G476C		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	476					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGTATTAGAAGGTTGCATTGC	0.338																																					p.G476C													.	.			0			c.G1426T												90.0	79.0	82.0					6																	25509914		1890	4115	6005	SO:0001583	missense	55604	exon18			TTAGAAGGTTGCA	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1426G>T	6.37:g.25509914G>T	ENSP00000331983:p.Gly476Cys		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	112	0.04	5	NM_001173977	10	0.00	0	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644449	0.87859	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.53423	0.62	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.56165	-0.8024	10	0.56958	D	0.05	.	18.6162	0.91303	0.0:0.0:1.0:0.0	.	476;476;476	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	476	ENSP00000331983:G476C	ENSP00000331983:G476C	G	+	1	0	LRRC16A	25617893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.336000	0.79245	2.456000	0.83038	0.591000	0.81541	GGT			0.338	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000040045.2		NM_017640	
DPCR1	135656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	30919139	30919139	+	Silent	SNP	A	A	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr6:30919139A>G	ENST00000462446.1	+	2	2926	c.2898A>G	c.(2896-2898)gaA>gaG	p.E966E	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	309						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AACATGGAGAAACGACAGTCA	0.517																																					p.E966E													.	.			0			c.A2898G												303.0	272.0	281.0					6																	30919139		692	1591	2283	SO:0001819	synonymous_variant	135656	exon2			TGGAGAAACGACA	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2898A>G	6.37:g.30919139A>G			Somatic	72	0	0		WXS	Illumina HiSeq	.	69	0.20	14	NM_080870	1	1.00	1	C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	CCDS4692.2																																																																																					0.517	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000076173.3		NM_080870	
DEF6	50619	broad.mit.edu	37	6	35278309	35278309	+	Missense_Mutation	SNP	G	G	T	rs150604825	byFrequency	TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr6:35278309G>T	ENST00000316637.5	+	3	316	c.311G>T	c.(310-312)cGg>cTg	p.R104L	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	104						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AAGAACTATCGGGCAGATAGC	0.537																																					p.R104L													.	DEF6	36		0			c.G311T												185.0	156.0	166.0					6																	35278309		2203	4300	6503	SO:0001583	missense	50619	exon3			ACTATCGGGCAGA	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.311G>T	6.37:g.35278309G>T	ENSP00000319831:p.Arg104Leu		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	100	0.03	3	NM_022047	60	0.00	0	Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471410	0.43942	.	.	ENSG00000023892	ENST00000316637	T	0.11930	2.73	5.47	-2.97	0.05530	.	0.521709	0.20688	N	0.087518	T	0.04092	0.0114	L	0.41236	1.265	0.24160	N	0.995665	B;B	0.22146	0.065;0.065	B;B	0.22601	0.04;0.04	T	0.36720	-0.9736	10	0.66056	D	0.02	-11.0613	13.259	0.60095	0.6205:0.0:0.3795:0.0	.	104;104	B2RBP7;Q9H4E7	.;DEFI6_HUMAN	L	104	ENSP00000319831:R104L	ENSP00000319831:R104L	R	+	2	0	DEF6	35386287	0.000000	0.05858	0.000000	0.03702	0.994000	0.84299	-0.265000	0.08644	-0.520000	0.06435	-0.258000	0.10820	CGG			0.537	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040276.1		NM_022047	
Unknown	0	bcgsc.ca	37	7	35473	35473	+	IGR	SNP	T	T	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr7:35473T>C								None (None upstream) : AC093627.7 (35498 downstream)																							ctgctgctgctgccgccgccg	0.547																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TGCTGCTGCCGCC																													7.37:g.35473T>C			Somatic	202	0.0148514851	3		WXS	Illumina HiSeq	Phase_1	304	0.04	11	.	0		0		RNA	SNP		37																																																																																					0	0.547										
GRID2IP	392862	mdanderson.org	37	7	6548894	6548894	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr7:6548894A>G	ENST00000457091.2	-	12	1821	c.1822T>C	c.(1822-1824)Tcc>Ccc	p.S608P	GRID2IP_ENST00000452113.1_Missense_Mutation_p.S417P|GRID2IP_ENST00000435185.1_Missense_Mutation_p.S424P	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	608	Pro-rich.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						TAGCAGGGGGAGGGCAAGAGT	0.677																																					p.S608P													.	.			0			c.T1822C												12.0	17.0	15.0					7																	6548894		689	1590	2279	SO:0001583	missense	392862	exon12			AGGGGGAGGGCAA		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.1822T>C	7.37:g.6548894A>G	ENSP00000397351:p.Ser608Pro		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	62	0.05	3	NM_001145118	0		0		Missense_Mutation	SNP	ENST00000457091.2	37	CCDS47537.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351686	0.41700	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	T;T;T	0.41065	1.01;1.01;1.01	4.71	3.38	0.38709	.	0.543096	0.18983	U	0.125822	T	0.30008	0.0751	L	0.47716	1.5	0.27675	N	0.946636	B	0.02656	0.0	B	0.04013	0.001	T	0.08027	-1.0742	10	0.29301	T	0.29	.	4.2136	0.10522	0.7298:0.0:0.2702:0.0	.	608	A4D2P6	GRD2I_HUMAN	P	417;424;608	ENSP00000397887:S417P;ENSP00000408364:S424P;ENSP00000397351:S608P	ENSP00000408364:S424P	S	-	1	0	GRID2IP	6515419	1.000000	0.71417	0.996000	0.52242	0.780000	0.44128	4.647000	0.61418	1.893000	0.54813	0.334000	0.21626	TCC			0.677	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340534.1		XM_294249	
SCRN1	9805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	29994942	29994942	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr7:29994942G>A	ENST00000426154.1	-	3	370	c.194C>T	c.(193-195)aCc>aTc	p.T65I	SCRN1_ENST00000425819.2_5'UTR|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.T65I|SCRN1_ENST00000409570.1_Missense_Mutation_p.T65I|SCRN1_ENST00000416113.2_5'Flank|SCRN1_ENST00000242059.5_Missense_Mutation_p.T65I|SCRN1_ENST00000434476.2_Missense_Mutation_p.T85I	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	65					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TATGGCATAGGTCCTTGGAAC	0.488																																					p.T85I													.	.			0			c.C254T												111.0	107.0	109.0					7																	29994942		2203	4300	6503	SO:0001583	missense	9805	exon3			GCATAGGTCCTTG	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.194C>T	7.37:g.29994942G>A	ENSP00000409068:p.Thr65Ile		Somatic	117	0	0		WXS	Illumina HiSeq	.	156	0.12	19	NM_001145514	40	0.18	7	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816609	0.90790	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T	0.36520	2.86;2.86;2.86;2.79;1.97;1.31;1.25	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82234	-0.0558	9	.	.	.	-26.0551	18.3976	0.90504	0.0:0.0:1.0:0.0	.	85;65	C9JPG0;Q12765	.;SCRN1_HUMAN	I	65;65;65;85;65;65;65	ENSP00000242059:T65I;ENSP00000409068:T65I;ENSP00000386872:T65I;ENSP00000388942:T85I;ENSP00000413184:T65I;ENSP00000406289:T65I;ENSP00000387052:T65I	.	T	-	2	0	SCRN1	29961467	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.342000	0.97044	2.706000	0.92434	0.557000	0.71058	ACC			0.488	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214231.2		NM_014766	
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																					.													.	.			0			.																																											0	.			CCGGGGTCCTTGA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G			Somatic	113	0.0088495575	1		WXS	Illumina HiSeq	Phase_I	193	0.02	4	.	0		0		RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345921.1		NR_002164	
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																					.													.	.			0			.																																											0	.			GTTTACAGTGAAA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA			Somatic	8	0.125	1		WXS	Illumina HiSeq	Phase_I	12	0.50	6	.	0		0		RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000344467.1			
KIF13B	23303	broad.mit.edu	37	8	28929816	28929816	+	Silent	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr8:28929816G>T	ENST00000524189.1	-	39	4577	c.4539C>A	c.(4537-4539)ggC>ggA	p.G1513G	KIF13B_ENST00000404075.3_Silent_p.G32G	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1513					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCACGTCAGGGCCCATCTCCG	0.597																																					p.G1513G													.	KIF13B	192		0			c.C4539A												8.0	10.0	9.0					8																	28929816		1991	4139	6130	SO:0001819	synonymous_variant	23303	exon39			GTCAGGGCCCATC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4539C>A	8.37:g.28929816G>T			Somatic	159	0	0		WXS	Illumina HiSeq	Phase_I	241	0.02	4	NM_015254	13	0.00	0	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																					0.597	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376878.1			
FAM83A	84985	broad.mit.edu	37	8	124219708	124219708	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr8:124219708A>C	ENST00000518448.1	+	5	3099	c.1085A>C	c.(1084-1086)cAc>cCc	p.H362P	FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.H362P|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	362	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGCCCCACACCCGCCTCCA	0.766																																					p.H362P													FAM83A,NS,carcinoma,0,1	FAM83A	64	1	0			c.A1085C												5.0	7.0	6.0					8																	124219708		1904	3885	5789	SO:0001583	missense	84985	exon4			CCCCACACCCGCC	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1085A>C	8.37:g.124219708A>C	ENSP00000428876:p.His362Pro		Somatic	26	0.1538461538	4		WXS	Illumina HiSeq	Phase_I	56	0.20	11	NM_032899	0		0	Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	A	5.552	0.286635	0.10513	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.08008	3.14;3.14	4.97	-0.905	0.10527	.	1.114660	0.06760	N	0.781560	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45026	-0.9289	10	0.26408	T	0.33	-11.7612	2.1492	0.03795	0.3763:0.3547:0.146:0.123	.	362	Q86UY5	FA83A_HUMAN	P	362	ENSP00000428876:H362P;ENSP00000323034:H362P	ENSP00000323034:H362P	H	+	2	0	FAM83A	124288889	0.000000	0.05858	0.415000	0.26534	0.195000	0.23768	-0.129000	0.10515	-0.061000	0.13110	0.358000	0.22013	CAC			0.766	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381737.1		NM_032899	
MFSD3	113655	mdanderson.org	37	8	145738815	145738815	+	IGR	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr8:145738815G>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.S750R|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCGTTCCCGGCTGCACATGC	0.662																																					p.S750R													.	.			0			c.C2250A												20.0	25.0	23.0					8																	145738815		2100	4199	6299	SO:0001628	intergenic_variant	9401	exon14			TTCCCGGCTGCAC		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738815G>T			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_004260	220	0.00	0		Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																					0.662	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382478.2		NM_138431	
KCNV2	169522	broad.mit.edu	37	9	2717880	2717880	+	Silent	SNP	A	A	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr9:2717880A>T	ENST00000382082.3	+	1	379	c.141A>T	c.(139-141)acA>acT	p.T47T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	47					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACGGCTGGACAGAGGGCAACT	0.627																																					p.T47T													.	KCNV2	72		0			c.A141T												128.0	111.0	117.0					9																	2717880		2203	4300	6503	SO:0001819	synonymous_variant	169522	exon1			CTGGACAGAGGGC	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.141A>T	9.37:g.2717880A>T			Somatic	152	0	0		WXS	Illumina HiSeq	Phase_I	238	0.03	6	NM_133497	0		0	Q5T6X0	Silent	SNP	ENST00000382082.3	37	CCDS6447.1																																																																																					0.627	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051528.1		NM_133497	
RP11-764K9.1	0	broad.mit.edu	37	9	68406792	68406792	+	lincRNA	DEL	A	A	-			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr9:68406792delA	ENST00000417843.2	-	0	224				RNA5SP284_ENST00000384547.1_RNA																							tgtagagaccaaaggccttga	0.532																																					.													.	.			0			.																																											0	.			GAGACCAAAGGCC																													9.37:g.68406792delA			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	9	0.22	2	.	0		0		RNA	DEL	ENST00000417843.2	37																																																																																						0.532	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000129817.2			
GPR144	347088	mdanderson.org	37	9	127215734	127215734	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr9:127215734A>G	ENST00000334810.1	+	4	758	c.758A>G	c.(757-759)cAg>cGg	p.Q253R				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	253	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						GTGCTGGGCCAGGATCAGGAC	0.756																																					p.Q253R													.	.			0			c.A758G												3.0	4.0	4.0					9																	127215734		657	1515	2172	SO:0001583	missense	347088	exon4			TGGGCCAGGATCA	AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.758A>G	9.37:g.127215734A>G	ENSP00000335156:p.Gln253Arg		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_001161808	0		0	Q86SL4|Q8NH12	Missense_Mutation	SNP	ENST00000334810.1	37	CCDS48016.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548710	0.65311	.	.	ENSG00000180264	ENST00000334810	T	0.12774	2.65	4.18	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.20495	0.0493	M	0.76727	2.345	0.44469	D	0.997404	B	0.24258	0.1	B	0.28916	0.096	T	0.03773	-1.1005	9	0.66056	D	0.02	.	12.4091	0.55457	1.0:0.0:0.0:0.0	.	253	Q7Z7M1	GP144_HUMAN	R	253	ENSP00000335156:Q253R	ENSP00000335156:Q253R	Q	+	2	0	GPR144	126255555	1.000000	0.71417	0.998000	0.56505	0.742000	0.42306	7.338000	0.79269	1.518000	0.48934	0.260000	0.18958	CAG			0.756	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054026.2		NM_182611	
KCNT1	57582	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	138662153	138662153	+	Silent	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr9:138662153G>A	ENST00000263604.3	+	17	1572	c.1572G>A	c.(1570-1572)caG>caA	p.Q524Q	KCNT1_ENST00000298480.5_Silent_p.Q543Q|KCNT1_ENST00000490355.2_Silent_p.Q524Q|KCNT1_ENST00000488444.2_Silent_p.Q524Q|KCNT1_ENST00000486577.2_Silent_p.Q504Q|KCNT1_ENST00000491806.2_Silent_p.Q510Q|KCNT1_ENST00000487664.1_Silent_p.Q498Q|KCNT1_ENST00000371757.2_Silent_p.Q543Q			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	524	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGGAGGGACAGGAGTCTCCGG	0.682																																					p.Q543Q													KCNT1,NS,carcinoma,+1,1	KCNT1	1	1	0			c.G1629A												41.0	37.0	38.0					9																	138662153		2203	4300	6503	SO:0001819	synonymous_variant	57582	exon17			GGGACAGGAGTCT	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1572G>A	9.37:g.138662153G>A			Somatic	61	0	0		WXS	Illumina HiSeq	.	58	0.16	9	NM_020822	0		0	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																						0.682	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_020822	
PNPLA7	375775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	140379046	140379046	+	Silent	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr9:140379046G>A	ENST00000277531.4	-	20	2451	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	PNPLA7_ENST00000406427.1_Silent_p.S780S|PNPLA7_ENST00000371457.1_Silent_p.S361S	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	755					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TACCGATGGCGCTGAGGGCAT	0.682																																					p.S780S													.	.			0			c.C2340T																																									SO:0001819	synonymous_variant	375775	exon21			GATGGCGCTGAGG	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2265C>T	9.37:g.140379046G>A			Somatic	93	0	0		WXS	Illumina HiSeq	.	85	0.12	10	NM_001098537	0		0	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	CCDS7045.1																																																																																					0.682	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000254787.1		NM_152286	
SPANXN5	494197	broad.mit.edu	37	X	52825639	52825639	+	Silent	SNP	G	G	A			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chrX:52825639G>A	ENST00000375511.3	-	2	860	c.108C>T	c.(106-108)ctC>ctT	p.L36L		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	36										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AACTCGGTTCGAGGACTAAGT	0.388																																					p.L36L													.	SPANXN5	12		0			c.C108T												161.0	138.0	146.0					X																	52825639		2203	4300	6503	SO:0001819	synonymous_variant	494197	exon2			CGGTTCGAGGACT		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.108C>T	X.37:g.52825639G>A			Somatic	178	0	0		WXS	Illumina HiSeq	Phase_I	254	0.02	6	NM_001009616	1	0.00	0		Silent	SNP	ENST00000375511.3	37	CCDS35295.1																																																																																					0.388	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056690.2		NM_001009616	
AR	367	mdanderson.org	37	X	66766276	66766276	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chrX:66766276G>T	ENST00000374690.3	+	1	1812	c.1288G>T	c.(1288-1290)Gcc>Tcc	p.A430S	AR_ENST00000504326.1_Missense_Mutation_p.A430S|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.A430S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	428	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ACCCTCAGCCGCCGCTTCCTC	0.721									Androgen Insensitivity Syndrome																												p.A430S													.	.			0			c.G1288T																																									SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TCAGCCGCCGCTT	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1288G>T	X.37:g.66766276G>T	ENSP00000363822:p.Ala430Ser		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	27	0.11	3	NM_000044	0		0	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	4.575	0.106750	0.08780	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.94650	-3.48;-3.48;-3.48	5.06	0.456	0.16655	.	0.893224	0.09686	N	0.769145	D	0.90283	0.6961	L	0.55213	1.73	0.09310	N	1	B;B;B	0.21520	0.026;0.014;0.057	B;B;B	0.28638	0.092;0.044;0.052	T	0.75988	-0.3123	10	0.18710	T	0.47	.	3.1394	0.06450	0.4144:0.0:0.3955:0.1901	.	430;430;428	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	S	240;430;430;430;422	ENSP00000363822:A430S;ENSP00000421155:A430S;ENSP00000379359:A430S	ENSP00000363822:A430S	A	+	1	0	AR	66683001	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.965000	0.03829	-0.236000	0.09753	0.509000	0.49947	GCC			0.721	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057007.1		NM_000044	
PCMTD1P1	100874520	bcgsc.ca	37	Y	10011625	10011625	+	IGR	SNP	C	C	T			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chrY:10011625C>T								RNA5SP519 (81023 upstream) : AC010970.1 (22355 downstream)																							GGGTAATCAGCTTATTCCTCA	0.428																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	100874520	.			AATCAGCTTATTC																													Y.37:g.10011625C>T			Somatic	66	0.0151515152	1		WXS	Illumina HiSeq	Phase_1	95	0.09	9	.	1	0.00	0		RNA	SNP		37																																																																																					0	0.428										
