#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
CLCNKB	1188	mdanderson.org	37	1	16377477	16377477	+	Silent	SNP	G	G	T	rs13306237		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr1:16377477G>T	ENST00000375679.4	+	12	1272	c.1161G>T	c.(1159-1161)ctG>ctT	p.L387L	CLCNKB_ENST00000375667.3_Silent_p.L218L	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	387					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.L387L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGCACCTGTGGTGGGAAT	0.622																																					p.L387L													.	.			1	Substitution - coding silent(1)	lung(1)	c.G1161T												99.0	101.0	101.0					1																	16377477		2203	4300	6503	SO:0001819	synonymous_variant	1188	exon12			GCACCTGTGGTGG	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1161G>T	1.37:g.16377477G>T			Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	97	0.09	9	NM_000085	0		0	B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	CCDS168.1																																																																																					0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026331.1		NM_000085	
BCAN	63827	mdanderson.org	37	1	156617454	156617454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr1:156617454G>A	ENST00000329117.5	+	4	957	c.621G>A	c.(619-621)tgG>tgA	p.W207*	BCAN_ENST00000361588.5_Nonsense_Mutation_p.W207*|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	207	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCTGGCTGGCTGTCGGATC	0.662																																					p.W207X													.	.			0			c.G621A												80.0	85.0	83.0					1																	156617454		2203	4300	6503	SO:0001587	stop_gained	63827	exon4			TGGCTGGCTGTCG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.621G>A	1.37:g.156617454G>A	ENSP00000331210:p.Trp207*		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_021948	3	0.00	0	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Nonsense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224498	0.95139	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	.	.	.	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4934	15.4434	0.75208	0.0:0.0:1.0:0.0	.	.	.	.	X	207;207;105;207	.	ENSP00000331210:W207X	W	+	3	0	BCAN	154884078	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.564000	0.98151	2.196000	0.70406	0.455000	0.32223	TGG			0.662	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081844.2		NM_021948	
DNAJC1	64215	mdanderson.org	37	10	22292356	22292356	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:22292356G>T	ENST00000376980.3	-	1	298	c.8C>A	c.(7-9)gCt>gAt	p.A3D	DNAJC1_ENST00000376946.1_Missense_Mutation_p.A3D	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	3					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGAGCAAGGAGCCGTCATCGC	0.756																																					p.A3D													.	.			0			c.C8A												2.0	2.0	2.0					10																	22292356		1306	2666	3972	SO:0001583	missense	64215	exon1			CAAGGAGCCGTCA	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.8C>A	10.37:g.22292356G>T	ENSP00000366179:p.Ala3Asp		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	11	0.18	2	NM_022365	2	0.00	0	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031913	0.54790	.	.	ENSG00000136770	ENST00000376980;ENST00000376946	T;T	0.67698	-0.28;1.3	4.48	3.56	0.40772	.	0.778290	0.11123	N	0.597184	T	0.47097	0.1427	N	0.08118	0	0.09310	N	1	P	0.38195	0.622	B	0.37346	0.247	T	0.39078	-0.9631	10	0.87932	D	0	.	9.3843	0.38333	0.1079:0.0:0.8921:0.0	.	3	Q96KC8	DNJC1_HUMAN	D	3	ENSP00000366179:A3D;ENSP00000366145:A3D	ENSP00000366145:A3D	A	-	2	0	DNAJC1	22332362	0.116000	0.22171	0.366000	0.25914	0.100000	0.18952	0.956000	0.29202	1.062000	0.40625	0.585000	0.79938	GCT			0.756	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047149.1		NM_022365	
CDH23	64072	mdanderson.org	37	10	73558990	73558990	+	Missense_Mutation	SNP	G	G	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:73558990G>A	ENST00000224721.6	+	50	7197	c.7192G>A	c.(7192-7194)Gtg>Atg	p.V2398M	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.V153M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2393	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTGGAAATCGTGGACATCAA	0.612																																					p.V2393M													CDH23,rectum,carcinoma,-2,1	CDH23	-2	1	0			c.G7177A												72.0	80.0	78.0					10																	73558990		2022	4161	6183	SO:0001583	missense	64072	exon49			GAAATCGTGGACA	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7192G>A	10.37:g.73558990G>A	ENSP00000224721:p.Val2398Met		Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_022124	0		0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	18.54	3.645257	0.67358	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01838	4.61	5.55	5.55	0.83447	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.071871	0.56097	D	0.000031	T	0.09686	0.0238	M	0.70595	2.14	0.58432	D	0.999992	P;P	0.50156	0.932;0.782	P;B	0.54026	0.74;0.298	T	0.00934	-1.1509	10	0.49607	T	0.09	.	19.516	0.95165	0.0:0.0:1.0:0.0	.	2393;2393	E9PEX1;Q9H251	.;CAD23_HUMAN	M	2398;2393;2396;153	ENSP00000381768:V153M	ENSP00000224721:V2398M	V	+	1	0	CDH23	73228996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.670000	0.54569	2.623000	0.88846	0.655000	0.94253	GTG			0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000051227.4		NM_052836	
USP54	159195	mdanderson.org	37	10	75276934	75276934	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:75276934G>T	ENST00000339859.4	-	19	3350	c.3250C>A	c.(3250-3252)Ctt>Att	p.L1084I	USP54_ENST00000422491.2_Missense_Mutation_p.L266I|USP54_ENST00000428547.1_Missense_Mutation_p.L934I|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.L1084I|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L172I			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1084					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGACAGTGAAGCACAAATGAA	0.483																																					p.L1084I	Colon(195;880 2046 8854 25025 38456)												.	.			0			c.C3250A												100.0	102.0	101.0					10																	75276934		2203	4300	6503	SO:0001583	missense	159195	exon18			AGTGAAGCACAAA	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3250C>A	10.37:g.75276934G>T	ENSP00000345216:p.Leu1084Ile		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_152586	72	0.00	0	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661161	0.29515	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.25912	1.82;1.82;1.82;1.77;1.78	5.83	4.93	0.64822	.	.	.	.	.	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	P;P	0.41848	0.763;0.501	P;B	0.44990	0.466;0.086	T	0.02138	-1.1207	9	0.44086	T	0.13	-2.6463	11.0159	0.47689	0.1416:0.0:0.8584:0.0	.	266;1084	E7EW90;Q70EL1	.;UBP54_HUMAN	I	1084;1084;934;172;266	ENSP00000345216:L1084I;ENSP00000386080:L1084I;ENSP00000408714:L934I;ENSP00000378290:L172I;ENSP00000407368:L266I	ENSP00000345216:L1084I	L	-	1	0	USP54	74946940	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	4.074000	0.57577	1.468000	0.48064	0.655000	0.94253	CTT			0.483	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316563.2		NM_152586	
SLIT1	6585	mdanderson.org	37	10	98781159	98781159	+	Missense_Mutation	SNP	G	G	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:98781159G>A	ENST00000266058.4	-	26	2839	c.2594C>T	c.(2593-2595)gCc>gTc	p.A865V	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A865V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	865					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TAGGGGGTTGGCACCAATGGC	0.612																																					p.A865V													.	.			0			c.C2594T												43.0	39.0	41.0					10																	98781159		2203	4300	6503	SO:0001583	missense	6585	exon26			GGGTTGGCACCAA	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2594C>T	10.37:g.98781159G>A	ENSP00000266058:p.Ala865Val		Somatic	102	0.0098039216	1		WXS	Illumina HiSeq	Phase_I	82	0.05	4	NM_003061	0		0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204583	0.95033	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.04551	3.6;3.6	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	L	0.43646	1.37	0.80722	D	1	D	0.54964	0.969	P	0.48334	0.574	T	0.02821	-1.1106	10	0.72032	D	0.01	.	18.1698	0.89742	0.0:0.0:1.0:0.0	.	865	O75093	SLIT1_HUMAN	V	865	ENSP00000266058:A865V;ENSP00000360109:A865V	ENSP00000266058:A865V	A	-	2	0	SLIT1	98771149	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.521000	0.84997	0.462000	0.41574	GCC			0.612	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049636.1		NM_003061	
CPXM2	119587	mdanderson.org	37	10	125528156	125528156	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:125528156G>T	ENST00000241305.3	-	9	1339	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	395					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTGACACACGAACTGCACCA	0.627																																					p.F395L													.	.			0			c.C1185A												98.0	95.0	96.0					10																	125528156		2203	4300	6503	SO:0001583	missense	119587	exon9			ACACACGAACTGC	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1185C>A	10.37:g.125528156G>T	ENSP00000241305:p.Phe395Leu		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	20	0.10	2	NM_198148	12	0.00	0	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974384	0.74246	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.10860	2.83	4.96	-4.52	0.03472	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.45470	1.425	0.80722	D	1	D	0.65815	0.995	D	0.71184	0.972	T	0.00118	-1.2034	10	0.72032	D	0.01	-20.7082	14.4283	0.67230	0.6118:0.0:0.3882:0.0	.	395	Q8N436	CPXM2_HUMAN	L	395;228;395	ENSP00000241305:F395L	ENSP00000241305:F395L	F	-	3	2	CPXM2	125518146	0.995000	0.38212	0.894000	0.35097	0.753000	0.42808	0.269000	0.18589	-0.842000	0.04195	-0.794000	0.03295	TTC			0.627	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050853.1		NM_198148	
FANK1	92565	mdanderson.org	37	10	127585212	127585212	+	Start_Codon_SNP	SNP	A	A	T	rs145156460		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:127585212A>T	ENST00000368693.1	+	1	105	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	FANK1_ENST00000368695.1_De_novo_Start_InFrame|FANK1_ENST00000449042.2_De_novo_Start_InFrame			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	1						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M1L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCAGCCGACCATGGAGCCCCA	0.761																																					p.M1L													FANK1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,2	FANK1	0	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.A1T												9.0	12.0	11.0					10																	127585212		2172	4263	6435	SO:0001582	initiator_codon_variant	92565	exon1			CCGACCATGGAGC	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.1A>T	10.37:g.127585212A>T	ENSP00000357682:p.Met1Leu		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	22	0.14	3	NM_145235	13	0.00	0	Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	A	7.904	0.735016	0.15574	.	.	ENSG00000203780	ENST00000368693	T	0.36520	1.25	2.62	2.62	0.31277	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.05886	-1.0858	8	0.25751	T	0.34	.	7.1163	0.25418	1.0:0.0:0.0:0.0	.	1;1	Q8TC84-3;Q8TC84	.;FANK1_HUMAN	L	1	ENSP00000357682:M1L	ENSP00000357682:M1L	M	+	1	0	FANK1	127575202	0.921000	0.31238	0.955000	0.39395	0.220000	0.24768	1.121000	0.31283	1.433000	0.47394	0.379000	0.24179	ATG			0.761	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_145235	Missense_Mutation
MUC6	4588	mdanderson.org	37	11	1017211	1017211	+	Missense_Mutation	SNP	C	C	T	rs36128067		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:1017211C>T	ENST00000421673.2	-	31	5640	c.5590G>A	c.(5590-5592)Gcc>Acc	p.A1864T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1864	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGAAGTGGCCATCTGTGTG	0.567																																					p.A1864T													.	.			0			c.G5590A												380.0	366.0	371.0					11																	1017211		2199	4284	6483	SO:0001583	missense	4588	exon31			AAGTGGCCATCTG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5590G>A	11.37:g.1017211C>T	ENSP00000406861:p.Ala1864Thr		Somatic	148	0.0135135135	2		WXS	Illumina HiSeq	Phase_I	108	0.11	12	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	8.536	0.872112	0.17322	.	.	ENSG00000184956	ENST00000421673	T	0.18502	2.21	2.88	-5.76	0.02376	.	.	.	.	.	T	0.12603	0.0306	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	D	0.62955	0.909	T	0.03673	-1.1014	9	0.11485	T	0.65	.	2.5133	0.04662	0.1048:0.3634:0.1687:0.3631	rs36128067	1864	Q6W4X9	MUC6_HUMAN	T	1864	ENSP00000406861:A1864T	ENSP00000406861:A1864T	A	-	1	0	MUC6	1007211	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.643000	0.00862	-1.612000	0.01579	-0.921000	0.02739	GCC			0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540	
OR52L1	338751	mdanderson.org	37	11	6007599	6007599	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:6007599G>T	ENST00000332249.4	-	1	616	c.562C>A	c.(562-564)Caa>Aaa	p.Q188K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTGGCTTGGCAGAAGATA	0.498																																					p.Q188K	Melanoma(121;653 1666 10547 22796 51255)												.	.			0			c.C562A												101.0	94.0	96.0					11																	6007599		1992	4154	6146	SO:0001583	missense	338751	exon1			TGGCTTGGCAGAA	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.562C>A	11.37:g.6007599G>T	ENSP00000330338:p.Gln188Lys		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_001005173	0		0	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.393388	0.01185	.	.	ENSG00000183313	ENST00000332249	T	0.35973	1.28	3.73	0.384	0.16244	GPCR, rhodopsin-like superfamily (1);	1.392040	0.05023	N	0.473232	T	0.18467	0.0443	N	0.20401	0.57	0.09310	N	1	B	0.31125	0.309	B	0.28232	0.087	T	0.12837	-1.0532	10	0.07990	T	0.79	.	2.9728	0.05928	0.1044:0.3365:0.3926:0.1665	.	188	Q8NGH7	O52L1_HUMAN	K	188	ENSP00000330338:Q188K	ENSP00000330338:Q188K	Q	-	1	0	OR52L1	5964175	0.000000	0.05858	0.055000	0.19348	0.162000	0.22319	-3.601000	0.00418	0.127000	0.18452	0.313000	0.20887	CAA			0.498	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383754.1		NM_001005173	
DGKZ	8525	broad.mit.edu	37	11	46391504	46391504	+	Missense_Mutation	SNP	G	G	T	rs373801182		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:46391504G>T	ENST00000454345.1	+	7	1204	c.1079G>T	c.(1078-1080)cGg>cTg	p.R360L	DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000532868.2_Missense_Mutation_p.R176L|DGKZ_ENST00000421244.2_Missense_Mutation_p.R172L|DGKZ_ENST00000527911.1_Missense_Mutation_p.R172L|DGKZ_ENST00000456247.2_Missense_Mutation_p.R171L|DGKZ_ENST00000343674.6_Missense_Mutation_p.R188L|DGKZ_ENST00000395574.3_Missense_Mutation_p.R138L|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	360					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCTTTGTACGGCACCACTGG	0.642											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R360L													.	DGKZ	199		0			c.G1079T												82.0	73.0	76.0					11																	46391504		2202	4299	6501	SO:0001583	missense	8525	exon7			TTGTACGGCACCA	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1079G>T	11.37:g.46391504G>T	ENSP00000412178:p.Arg360Leu		Somatic	364	0	0	938	WXS	Illumina HiSeq	Phase_I	238	0.02	5	NM_001105540	204	0.00	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176316	0.94846	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000454345;ENST00000524448	T;T;T;T;T;T;T;T	0.25579	2.35;2.55;2.61;3.54;2.36;2.43;1.79;2.86	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.64404	1.975	0.80722	D	1	B;D;P;P;D;D;P	0.89917	0.23;0.999;0.457;0.6;1.0;0.998;0.817	B;D;B;B;D;D;B	0.76071	0.167;0.971;0.272;0.315;0.987;0.954;0.247	T	0.44375	-0.9332	10	0.39692	T	0.17	.	17.5919	0.87999	0.0:0.0:1.0:0.0	.	137;172;360;171;172;138;188	B7Z6M3;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;DGKZ_HUMAN;.;.;.;.	L	188;138;137;172;171;172;360;56	ENSP00000343065:R188L;ENSP00000378941:R138L;ENSP00000436273:R137L;ENSP00000436291:R172L;ENSP00000395684:R171L;ENSP00000391021:R172L;ENSP00000412178:R360L;ENSP00000435763:R56L	ENSP00000343065:R188L	R	+	2	0	DGKZ	46348080	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.800000	0.99124	2.224000	0.72417	0.561000	0.74099	CGG			0.642	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389772.1		NM_001105540	
VPS37C	55048	mdanderson.org	37	11	60901523	60901523	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:60901523G>T	ENST00000301765.5	-	3	482	c.250C>A	c.(250-252)Cag>Aag	p.Q84K		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	84	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						TTTGCCTTCTGCTCCTGGCAC	0.607																																					p.Q84K													.	.			0			c.C250A												62.0	63.0	63.0					11																	60901523		2203	4299	6502	SO:0001583	missense	55048	exon3			CCTTCTGCTCCTG	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.250C>A	11.37:g.60901523G>T	ENSP00000301765:p.Gln84Lys		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_017966	120	0.00	0	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049380	0.36181	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.73047	-0.71;-0.71	5.3	5.3	0.74995	Modifier of rudimentary, Modr (2);	0.058018	0.64402	D	0.000001	T	0.62270	0.2414	N	0.11106	0.095	0.39693	D	0.971074	D;D	0.57257	0.979;0.975	P;P	0.56474	0.696;0.799	T	0.59731	-0.7399	10	0.02654	T	1	-21.9894	17.1334	0.86732	0.0:0.0:1.0:0.0	.	84;84	B4DYD9;A5D8V6	.;VP37C_HUMAN	K	84	ENSP00000301765:Q84K;ENSP00000446013:Q84K	ENSP00000301765:Q84K	Q	-	1	0	VPS37C	60658099	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.987000	0.56944	2.496000	0.84212	0.491000	0.48974	CAG			0.607	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396467.1		NM_017966	
TEX40	25858	broad.mit.edu	37	11	64067718	64067718	+	5'Flank	SNP	T	T	G			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:64067718T>G	ENST00000328404.6	+	0	0				TEX40_ENST00000539943.1_5'Flank|RP11-783K16.10_ENST00000539086.1_RNA	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40						cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											CATTGGCGGGTGGGGTGCAGG	0.672																																					.													.	.			0			.																																									SO:0001631	upstream_gene_variant	0	.			GGCGGGTGGGGTG			11q13.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000219435	ENSG00000219435			19231	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 20"""	C11orf20			Standard	NM_001039496		Approved	DKFZP566E164	uc009ypm.3	Q9NTU4	OTTHUMG00000167820		11.37:g.64067718T>G	Exception_encountered		Somatic	34	0.4117647059	14		WXS	Illumina HiSeq	Phase_I	15	0.60	9	.	0		0		RNA	SNP	ENST00000328404.6	37																																																																																						0.672	TEX40-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001039496	
EHBP1L1	254102	mdanderson.org	37	11	65350066	65350066	+	Missense_Mutation	SNP	A	A	G			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:65350066A>G	ENST00000309295.4	+	9	2188	c.1923A>G	c.(1921-1923)atA>atG	p.I641M		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	641	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGGGGTCATAGAGACCCCAG	0.542																																					p.I641M													.	.			0			c.A1923G												53.0	57.0	56.0					11																	65350066		1930	4154	6084	SO:0001583	missense	254102	exon9			GGTCATAGAGACC	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1923A>G	11.37:g.65350066A>G	ENSP00000312671:p.Ile641Met		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_001099409	40	0.00	0	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	A	8.884	0.952249	0.18431	.	.	ENSG00000173442	ENST00000309295	T	0.67171	-0.25	3.8	-3.94	0.04130	.	.	.	.	.	T	0.43612	0.1255	N	0.14661	0.345	0.09310	N	1	B	0.23185	0.081	B	0.21546	0.035	T	0.30149	-0.9988	9	0.54805	T	0.06	.	6.6506	0.22959	0.3245:0.1532:0.5223:0.0	.	641	Q8N3D4	EH1L1_HUMAN	M	641	ENSP00000312671:I641M	ENSP00000312671:I641M	I	+	3	3	EHBP1L1	65106642	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.756000	0.04777	-0.765000	0.04645	0.383000	0.25322	ATA			0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390145.1		XM_170658	
ALDH3B2	222	mdanderson.org	37	11	67434105	67434105	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:67434105C>T	ENST00000349015.3	-	4	529	c.91G>A	c.(91-93)Gca>Aca	p.A31T	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.A31T|ALDH3B2_ENST00000531881.1_5'UTR	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	31					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TTCCAGGGTGCGATGATGAGG	0.632																																					p.A31T													ALDH3B2,NS,carcinoma,0,1	ALDH3B2	0	1	0			c.G91A												94.0	91.0	92.0					11																	67434105		2200	4294	6494	SO:0001583	missense	222	exon4			AGGGTGCGATGAT	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.91G>A	11.37:g.67434105C>T	ENSP00000255084:p.Ala31Thr		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_001031615	0		0	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332113	0.24167	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	4.07	-3.09	0.05331	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.554069	0.18644	N	0.135186	T	0.53351	0.1791	N	0.25286	0.73	0.09310	N	1	B	0.22480	0.07	B	0.27170	0.077	T	0.42085	-0.9472	10	0.66056	D	0.02	.	3.9841	0.09507	0.353:0.3519:0.0:0.2951	.	31	P48448	AL3B2_HUMAN	T	31	ENSP00000431595:A31T;ENSP00000255084:A31T;ENSP00000433718:A31T;ENSP00000433466:A31T	ENSP00000255084:A31T	A	-	1	0	ALDH3B2	67190681	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.588000	0.23924	-0.778000	0.04566	0.561000	0.74099	GCA			0.632	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394004.1		NM_000695	
ATM	472	mdanderson.org	37	11	108121539	108121539	+	Silent	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:108121539G>T	ENST00000452508.2	+	11	1536	c.1347G>T	c.(1345-1347)ggG>ggT	p.G449G	ATM_ENST00000278616.4_Silent_p.G449G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	449					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGCGACATGGGGAACGTACAC	0.408			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.G449G			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	ATM_ENST00000278616,colon,carcinoma,+1,2	ATM_ENST00000278616	1	2	0			c.G1347T												114.0	97.0	103.0					11																	108121539		2201	4298	6499	SO:0001819	synonymous_variant	472	exon10	Familial Cancer Database	AT, Louis-Bar syndrome	ACATGGGGAACGT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1347G>T	11.37:g.108121539G>T			Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_000051	11	0.00	0	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																					0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389938.1		NM_000051	
TBCEL	219899	mdanderson.org	37	11	120925820	120925820	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:120925820G>T	ENST00000529397.1	+	5	615	c.515G>T	c.(514-516)tGc>tTc	p.C172F	TBCEL_ENST00000422003.2_Missense_Mutation_p.C172F	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	172						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CCTTCTATTTGCTGTCATTCT	0.378																																					p.C172F													.	.			0			c.G515T												144.0	130.0	135.0					11																	120925820		2203	4299	6502	SO:0001583	missense	219899	exon5			CTATTTGCTGTCA	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.515G>T	11.37:g.120925820G>T	ENSP00000437184:p.Cys172Phe		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	51	0.08	4	NM_001130047	24	0.00	0	Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893489	0.52121	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000524726	T;T;T	0.41065	1.01;1.01;1.01	5.82	5.82	0.92795	.	0.135401	0.64402	D	0.000001	T	0.27098	0.0664	N	0.11427	0.14	0.80722	D	1	P	0.39352	0.669	B	0.34093	0.175	T	0.06643	-1.0815	10	0.33940	T	0.23	-28.3069	20.089	0.97809	0.0:0.0:1.0:0.0	.	172	Q5QJ74	TBCEL_HUMAN	F	172	ENSP00000437184:C172F;ENSP00000403925:C172F;ENSP00000432783:C172F	ENSP00000403925:C172F	C	+	2	0	TBCEL	120431030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.793000	0.69060	2.765000	0.95021	0.591000	0.81541	TGC			0.378	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000387688.1		NM_152715	
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.Q61R	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS_ENST00000256078,colon,carcinoma,+1,429	KRAS_ENST00000256078	1	429	141	Substitution - Missense(141)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	c.A182G												109.0	97.0	101.0					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	TCCTCTTGACCTG	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>G	12.37:g.25380276T>C	ENSP00000256078:p.Gln61Arg		Somatic	107	0	0		WXS	Illumina HiSeq	.	185	0.30	55	NM_004985	142	0.23	33	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA			0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360	
RP1-288H2.2	0	broad.mit.edu	37	12	52493869	52493869	+	RNA	DEL	C	C	-	rs34419454	byFrequency	TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr12:52493869delC	ENST00000547538.1	-	0	139				OR7E47P_ENST00000546390.1_RNA																							atgatcctctccccccccgga	0.433													|||unknown(ALL_OTHER_Ns)	1771	0.353634	0.1762	0.487	5008	,	,		17194	0.5327		0.3032	False		,,,				2504	0.3661				.													.	.			0			.																																											0	.			TCCTCTCCCCCCC																													12.37:g.52493869delC			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000547538.1	37																																																																																						0.433	RP1-288H2.2-001	PUTATIVE	basic	processed_transcript	processed_transcript		OTTHUMT00000405073.1			
KRT79	338785	broad.mit.edu	37	12	53217693	53217693	+	Missense_Mutation	SNP	T	T	C			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr12:53217693T>C	ENST00000330553.5	-	6	1158	c.1124A>G	c.(1123-1125)gAg>gGg	p.E375G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	375	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCATCAGCCTCCCCCTGCAG	0.627																																					p.E375G													.	KRT79	78		0			c.A1124G												62.0	52.0	55.0					12																	53217693		2203	4300	6503	SO:0001583	missense	338785	exon6			TCAGCCTCCCCCT	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1124A>G	12.37:g.53217693T>C	ENSP00000328358:p.Glu375Gly		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	69	0.04	3	NM_175834	0		0	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215767	0.58452	.	.	ENSG00000185640	ENST00000330553	T	0.79141	-1.24	3.79	3.79	0.43588	Filament (1);	0.000000	0.44097	D	0.000487	D	0.91529	0.7325	H	0.97491	4.015	0.50467	D	0.999873	D	0.89917	1.0	D	0.87578	0.998	D	0.93811	0.7110	10	0.87932	D	0	.	12.6929	0.56985	0.0:0.0:0.0:1.0	.	375	Q5XKE5	K2C79_HUMAN	G	375	ENSP00000328358:E375G	ENSP00000328358:E375G	E	-	2	0	KRT79	51503960	1.000000	0.71417	0.866000	0.34008	0.267000	0.26476	7.205000	0.77881	1.957000	0.56846	0.448000	0.29417	GAG			0.627	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406376.1		NM_175834	
GOLGA3	2802	hgsc.bcm.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C	rs541227756	byFrequency	TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr12:133353241T>C	ENST00000450791.2	-	20	4140	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000456883.2_Silent_p.E1319E|GOLGA3_ENST00000204726.3_Silent_p.E1319E			Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587													T|||	45	0.00898562	0.0212	0.0159	5008	,	,		20367	0.0		0.005	False		,,,				2504	0.001				p.E1319E													GOLGA3,right_upper_lobe,carcinoma,0,2	GOLGA3	0	2	0			c.A3957G												90.0	83.0	85.0					12																	133353241		2203	4300	6503	SO:0001819	synonymous_variant	2802	exon21			TAGCCCTTCCAGT	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3957A>G	12.37:g.133353241T>C			Somatic	50	0.04	2		WXS	Illumina HiSeq	.	63	0.05	3	NM_005895	168	0.01	1	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	CCDS9281.1																																																																																					0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397569.2		NM_005895	
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																					.													.	.			0			.																																											0	.			AGTGCAGTTTTTC																													13.37:g.25168489G>A			Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	27	0.11	3	.	39	0.03	1		RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript		OTTHUMT00000044193.1			
COL4A1	1282	mdanderson.org	37	13	110835421	110835421	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr13:110835421G>T	ENST00000375820.4	-	28	2135	c.2014C>A	c.(2014-2016)Cca>Aca	p.P672T		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	672	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCCTTCCTGGGGTTCCGGGA	0.612																																					p.P672T													.	.			0			c.C2014A												18.0	20.0	19.0					13																	110835421		2201	4300	6501	SO:0001583	missense	1282	exon28			TTCCTGGGGTTCC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2014C>A	13.37:g.110835421G>T	ENSP00000364979:p.Pro672Thr		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	54	0.06	3	NM_001845	492	0.00	0	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165517	0.57476	.	.	ENSG00000187498	ENST00000375820	D	0.94828	-3.53	4.7	4.7	0.59300	.	0.213391	0.38897	N	0.001536	D	0.96503	0.8859	M	0.76574	2.34	0.33190	D	0.550691	D	0.67145	0.996	D	0.68483	0.958	D	0.98169	1.0451	10	0.51188	T	0.08	.	13.8369	0.63415	0.0:0.0:0.8466:0.1534	.	672	P02462	CO4A1_HUMAN	T	672	ENSP00000364979:P672T	ENSP00000364979:P672T	P	-	1	0	COL4A1	109633422	1.000000	0.71417	0.943000	0.38184	0.980000	0.70556	4.159000	0.58157	2.328000	0.79073	0.561000	0.74099	CCA			0.612	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045759.3			
PIGH	5283	mdanderson.org	37	14	68066816	68066816	+	Silent	SNP	C	C	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr14:68066816C>T	ENST00000216452.4	-	1	188	c.105G>A	c.(103-105)cgG>cgA	p.R35R	PIGH_ENST00000560722.1_Silent_p.R35R|PIGH_ENST00000559581.1_Silent_p.R35R	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	35					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		GCAGCGAGAGCCGAGGGCAGC	0.672											OREG0022750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R35R													.	.			0			c.G105A												15.0	16.0	16.0					14																	68066816		2182	4283	6465	SO:0001819	synonymous_variant	5283	exon1			CGAGAGCCGAGGG		CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8964	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase subunit"""	600154	"""phosphatidylinositol glycan, class H"""			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.105G>A	14.37:g.68066816C>T			Somatic	50	0	0	1104	WXS	Illumina HiSeq	Phase_I	61	0.07	4	NM_004569	41	0.00	0	B2RAA4	Silent	SNP	ENST00000216452.4	37	CCDS9784.1																																																																																					0.672	PIGH-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000415189.2		NM_004569	
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	TAC	TAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																					.													.	.			0			.									307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0	.			ATATGGTACTACT	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC			Somatic	230	0.0217391304	5		WXS	Illumina HiSeq	Phase_I	293	0.04	11	.	150	0.00	0		RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene		OTTHUMT00000324605.1		NG_001019	
REC114	283677	mdanderson.org	37	15	73735668	73735668	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr15:73735668C>T	ENST00000331090.6	+	1	170	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	C15orf60_ENST00000560581.1_Missense_Mutation_p.P48S	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		48					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TGGGACAGCCCCCTGCCCCAC	0.662																																					p.P48S													.	.			0			c.C142T												14.0	20.0	18.0					15																	73735668		1984	4127	6111	SO:0001583	missense	283677	exon1			ACAGCCCCCTGCC																												ENST00000331090.6:c.142C>T	15.37:g.73735668C>T	ENSP00000328423:p.Pro48Ser		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	23	0.13	3	NM_001042367	0		0		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.440123	0.01098	.	.	ENSG00000183324	ENST00000331090	T	0.37411	1.2	3.45	-0.803	0.10886	.	1.057130	0.07340	N	0.880641	T	0.09992	0.0245	N	0.01576	-0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.29941	-0.9995	10	0.02654	T	1	-12.7149	3.3853	0.07269	0.0:0.3887:0.2252:0.3861	.	48	Q7Z4M0	CO060_HUMAN	S	48	ENSP00000328423:P48S	ENSP00000328423:P48S	P	+	1	0	C15orf60	71522721	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.949000	0.03893	-0.128000	0.11641	-0.367000	0.07326	CCC			0.662	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419069.1			
ZNF592	9640	mdanderson.org	37	15	85341275	85341275	+	Splice_Site	SNP	C	C	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr15:85341275C>A	ENST00000560079.2	+	6	2863	c.2575C>A	c.(2575-2577)Cag>Aag	p.Q859K	ZNF592_ENST00000299927.3_Splice_Site_p.Q859K	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	859					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGACCCTCCCAGTGAGTGCA	0.627																																					p.Q859K													.	.			0			c.C2575A												32.0	32.0	32.0					15																	85341275		2203	4299	6502	SO:0001630	splice_region_variant	9640	exon6			CCCTCCCAGTGAG	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2576+1C>A	15.37:g.85341275C>A			Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_014630	50	0.00	0	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263243	0.39995	.	.	ENSG00000166716	ENST00000299927	T	0.32988	1.43	5.67	5.67	0.87782	.	0.056530	0.64402	D	0.000001	T	0.26666	0.0652	N	0.02539	-0.55	0.44477	D	0.997418	D	0.61080	0.989	D	0.70487	0.969	T	0.15150	-1.0447	10	0.05833	T	0.94	-22.2402	17.2545	0.87051	0.0:1.0:0.0:0.0	.	859	Q92610	ZN592_HUMAN	K	859	ENSP00000299927:Q859K	ENSP00000299927:Q859K	Q	+	1	0	ZNF592	83142279	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.541000	0.45735	2.681000	0.91329	0.561000	0.74099	CAG			0.627	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630	Missense_Mutation
MAPK8IP3	23162	mdanderson.org	37	16	1812424	1812424	+	Missense_Mutation	SNP	C	C	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr16:1812424C>A	ENST00000250894.4	+	14	1766	c.1609C>A	c.(1609-1611)Cag>Aag	p.Q537K	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.Q531K	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	537					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGCGGAACCAGTACAAGGA	0.662																																					p.Q537K													.	.			0			c.C1609A												52.0	62.0	59.0					16																	1812424		2153	4275	6428	SO:0001583	missense	23162	exon14			CGGAACCAGTACA	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1609C>A	16.37:g.1812424C>A	ENSP00000250894:p.Gln537Lys		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_015133	13	0.00	0	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	36	5.930570	0.97116	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.88896	-2.44;-2.44	5.79	5.79	0.91817	.	0.115474	0.64402	D	0.000010	D	0.94873	0.8343	M	0.80982	2.52	0.80722	D	1	P;P;D	0.54047	0.947;0.768;0.964	P;P;D	0.69824	0.841;0.517;0.966	D	0.94864	0.8024	10	0.87932	D	0	-24.6164	19.6367	0.95736	0.0:1.0:0.0:0.0	.	538;531;537	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	K	537;531	ENSP00000250894:Q537K;ENSP00000348290:Q531K	ENSP00000250894:Q537K	Q	+	1	0	MAPK8IP3	1752425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.424000	0.80242	2.735000	0.93741	0.655000	0.94253	CAG			0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250508.2		NM_001040439	
CLN3	1201	mdanderson.org	37	16	28495343	28495343	+	Silent	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr16:28495343G>T	ENST00000569430.1	-	11	1593	c.774C>A	c.(772-774)gcC>gcA	p.A258A	CLN3_ENST00000357076.5_Intron|CLN3_ENST00000357857.9_Silent_p.A204A|CLN3_ENST00000359984.7_Silent_p.A258A|CLN3_ENST00000535392.1_Silent_p.A180A|CLN3_ENST00000354630.5_Silent_p.A258A|CLN3_ENST00000568224.1_Silent_p.A180A|CLN3_ENST00000355477.5_Silent_p.A210A|CLN3_ENST00000567963.1_Silent_p.A258A|CLN3_ENST00000357806.7_Silent_p.A159A|CLN3_ENST00000360019.2_Silent_p.A258A|CLN3_ENST00000333496.9_Silent_p.A234A|CLN3_ENST00000395653.4_Silent_p.A158A|CLN3_ENST00000565316.1_Silent_p.A258A			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	258					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCGACTCCGGGGCCTCGGTTC	0.552																																					p.A258A													.	.			0			c.C774A												43.0	41.0	42.0					16																	28495343		2197	4300	6497	SO:0001819	synonymous_variant	1201	exon10			CTCCGGGGCCTCG	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.774C>A	16.37:g.28495343G>T			Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_001042432	105	0.00	0	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Silent	SNP	ENST00000569430.1	37	CCDS10632.1																																																																																					0.552	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214115.2			
ITGAX	3687	mdanderson.org	37	16	31371771	31371771	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr16:31371771G>T	ENST00000268296.4	+	8	969	c.848G>T	c.(847-849)cGc>cTc	p.R283L	ITGAX_ENST00000562522.1_Missense_Mutation_p.R283L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	283	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R283H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGCATCATCCGCTATGCAATT	0.517																																					p.R283L													ITGAX,NS,carcinoma,0,2	ITGAX	0	2	1	Substitution - Missense(1)	lung(1)	c.G848T												75.0	76.0	76.0					16																	31371771		2197	4300	6497	SO:0001583	missense	3687	exon8			TCATCCGCTATGC	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.848G>T	16.37:g.31371771G>T	ENSP00000268296:p.Arg283Leu		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_000887	8	0.00	0	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564656	0.65651	.	.	ENSG00000140678	ENST00000268296	D	0.81996	-1.56	4.83	4.83	0.62350	von Willebrand factor, type A (3);	.	.	.	.	D	0.88757	0.6523	L	0.54863	1.705	0.46927	D	0.999259	D	0.89917	1.0	D	0.87578	0.998	D	0.89379	0.3680	9	0.72032	D	0.01	.	15.3011	0.73952	0.0:0.0:1.0:0.0	.	283	P20702	ITAX_HUMAN	L	283	ENSP00000268296:R283L	ENSP00000268296:R283L	R	+	2	0	ITGAX	31279272	0.996000	0.38824	0.973000	0.42090	0.204000	0.24138	4.568000	0.60857	2.658000	0.90341	0.591000	0.81541	CGC			0.517	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255628.2		NM_000887	
ARHGEF15	22899	mdanderson.org	37	17	8215854	8215854	+	Missense_Mutation	SNP	A	A	G			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:8215854A>G	ENST00000361926.3	+	2	607	c.497A>G	c.(496-498)cAg>cGg	p.Q166R	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q166R	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	166					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGCCGGGCTCAGGATGCAGAT	0.642																																					p.Q166R													.	.			0			c.A497G												37.0	40.0	39.0					17																	8215854		2203	4300	6503	SO:0001583	missense	22899	exon2			GGGCTCAGGATGC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.497A>G	17.37:g.8215854A>G	ENSP00000355026:p.Gln166Arg		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_025014	24	0.00	0	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	A	2.035	-0.421538	0.04734	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.75477	-0.94;-0.94	5.65	3.33	0.38152	.	0.404300	0.22658	N	0.057223	T	0.74604	0.3738	L	0.29908	0.895	0.09310	N	1	D;D;P	0.60160	0.987;0.987;0.906	D;D;B	0.67725	0.953;0.953;0.351	T	0.63800	-0.6555	10	0.27785	T	0.31	-5.9664	9.8048	0.40786	0.6642:0.3358:0.0:0.0	.	166;166;67	D3DTR7;O94989;B4DTR5	.;ARHGF_HUMAN;.	R	166;67;166	ENSP00000355026:Q166R;ENSP00000412505:Q166R	ENSP00000355026:Q166R	Q	+	2	0	ARHGEF15	8156579	0.111000	0.22076	0.008000	0.14137	0.019000	0.09904	1.426000	0.34870	0.385000	0.24970	0.454000	0.30748	CAG			0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226993.2		NM_173728	
MYH2	4620	mdanderson.org	37	17	10428649	10428649	+	Silent	SNP	G	G	T	rs375114012	byFrequency	TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:10428649G>T	ENST00000245503.5	-	33	4938	c.4554C>A	c.(4552-4554)ctC>ctA	p.L1518L	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.L1518L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1518					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTGTTCCGTGAGGTCAGAAA	0.388																																					p.L1518L													.	.			0			c.C4554A												95.0	85.0	88.0					17																	10428649		2203	4300	6503	SO:0001819	synonymous_variant	4620	exon33			TTCCGTGAGGTCA		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4554C>A	17.37:g.10428649G>T			Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	77	0.05	4	NM_001100112	0		0	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																					0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252726.3		NM_017534	
GPR179	440435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	36485919	36485921	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:36485919_36485921delTCT	ENST00000342292.4	-	11	3551_3553	c.3531_3533delAGA	c.(3529-3534)gaagac>gac	p.E1177del	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1177					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCCTCTGTCTTCTTGTTCCC	0.552																																					p.1178_1178del													.	GPR179	170		0			c.3532_3534del																																									SO:0001651	inframe_deletion	440435	exon11			CCTCTGTCTTCTT		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3531_3533delAGA	17.37:g.36485922_36485924delTCT	ENSP00000345060:p.Glu1177del		Somatic	123	0	0		WXS	Illumina HiSeq	.	86	0.14	12	NM_001004334	0		0		In_Frame_Del	DEL	ENST00000342292.4	37	CCDS42308.1																																																																																					0.552	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255329.2			
KRT32	3882	mdanderson.org	37	17	39623426	39623426	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:39623426C>T	ENST00000225899.3	-	1	255	c.152G>A	c.(151-153)tGc>tAc	p.C51Y	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	51	Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GGTGGGCAGGCAGACCGAAGG	0.672																																					p.C51Y													.	.			0			c.G152A												36.0	39.0	38.0					17																	39623426		2203	4299	6502	SO:0001583	missense	3882	exon1			GGCAGGCAGACCG	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.152G>A	17.37:g.39623426C>T	ENSP00000225899:p.Cys51Tyr		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_002278	0		0		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	7.857	0.725188	0.15439	.	.	ENSG00000108759	ENST00000225899	D	0.82255	-1.59	5.38	2.24	0.28232	.	0.000000	0.36519	N	0.002541	T	0.74854	0.3771	L	0.54323	1.7	0.09310	N	1	B	0.12013	0.005	B	0.20955	0.032	T	0.60146	-0.7320	10	0.29301	T	0.29	.	6.0228	0.19638	0.0:0.6612:0.1605:0.1782	.	51	Q14532	K1H2_HUMAN	Y	51	ENSP00000225899:C51Y	ENSP00000225899:C51Y	C	-	2	0	KRT32	36876952	0.001000	0.12720	0.003000	0.11579	0.387000	0.30353	0.940000	0.28992	0.748000	0.32831	0.563000	0.77884	TGC			0.672	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257293.1		NM_002278	
LSM12	124801	broad.mit.edu	37	17	42143886	42143886	+	Missense_Mutation	SNP	G	G	A	rs374081346		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:42143886G>A	ENST00000591247.1	-	2	392	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	LSM12_ENST00000585388.1_Missense_Mutation_p.R24W|LSM12_ENST00000293406.3_Missense_Mutation_p.R24W	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	24										NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCCTGCAGCCGCTGCTCCTGG	0.662																																					p.R24W													.	LSM12	16		0			c.C70T												17.0	15.0	15.0					17																	42143886		2176	4245	6421	SO:0001583	missense	124801	exon2			GCAGCCGCTGCTC	BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.70C>T	17.37:g.42143886G>A	ENSP00000466718:p.Arg24Trp		Somatic	168	0.005952381	1		WXS	Illumina HiSeq	Phase_I	165	0.04	6	NM_152344	44	0.00	0	Q86YB1|Q96NL5	Missense_Mutation	SNP	ENST00000591247.1	37	CCDS11475.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090540	0.76756	.	.	ENSG00000161654	ENST00000293406	T	0.32023	1.47	4.79	2.81	0.32909	.	0.145176	0.44483	D	0.000442	T	0.43656	0.1257	L	0.60455	1.87	0.47778	D	0.999513	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.924	T	0.31024	-0.9958	10	0.72032	D	0.01	-1.1258	5.5541	0.17107	0.169:0.0:0.6732:0.1578	.	24;24	B4DUG4;Q3MHD2	.;LSM12_HUMAN	W	24	ENSP00000293406:R24W	ENSP00000293406:R24W	R	-	1	2	LSM12	39499412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.306000	0.65756	0.628000	0.30357	0.655000	0.94253	CGG			0.662	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457672.1		NM_152344	
MRPL45P2	653479	broad.mit.edu	37	17	45567245	45567246	+	RNA	INS	-	-	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:45567245_45567246insA	ENST00000575291.1	-	0	385									mitochondrial ribosomal protein L45 pseudogene 2																		aactccatctcaaaaaaaaaaa	0.401																																					.													.	.			0			.																																											0	.			CCATCTCAAAAAA			17q21.32	2010-09-29				ENSG00000228782			29716	pseudogene	pseudogene						12706105	Standard	NR_033934		Approved		uc002ilq.3				17.37:g.45567256_45567256dupA			Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	8	0.38	3	.	0		0		RNA	INS	ENST00000575291.1	37																																																																																						0.401	MRPL45P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000441112.1		NR_033934	
LOC644669	644669	broad.mit.edu	37	18	15322956	15322962	+	RNA	DEL	TTTATAC	TTTATAC	-	rs146209657|rs368482408		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	TTTATAC	TTTATAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr18:15322956_15322962delTTTATAC	ENST00000455308.2	-	0	594				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						AAACTAAAAATTTATACTTCTTAAAAC	0.208																																					.													.	.			0			.																																											0	.			TAAAAATTTATAC																													18.37:g.15322956_15322962delTTTATAC			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	9	0.44	4	.	0		0		RNA	DEL	ENST00000455308.2	37																																																																																						0.208	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000373635.1			
VPS4B	9525	mdanderson.org	37	18	61077568	61077568	+	Missense_Mutation	SNP	T	T	A	rs371887990		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr18:61077568T>A	ENST00000238497.5	-	3	454	c.251A>T	c.(250-252)cAg>cTg	p.Q84L	VPS4B_ENST00000591519.1_Missense_Mutation_p.Q84L	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	84					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CACTGGCTTCTGTGCTTTTTT	0.383																																					p.Q84L													.	.			0			c.A251T												204.0	186.0	192.0					18																	61077568		2203	4300	6503	SO:0001583	missense	9525	exon3			GGCTTCTGTGCTT	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.251A>T	18.37:g.61077568T>A	ENSP00000238497:p.Gln84Leu		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_004869	48	0.00	0	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	T	9.941	1.217601	0.22373	.	.	ENSG00000119541	ENST00000238497	T	0.21361	2.01	5.87	5.87	0.94306	.	0.529889	0.20799	N	0.085469	T	0.12178	0.0296	N	0.14661	0.345	0.28190	N	0.92778	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08146	-1.0736	10	0.45353	T	0.12	-14.9507	7.31	0.26469	0.1278:0.0:0.2422:0.6299	.	84;84	A8K4G7;O75351	.;VPS4B_HUMAN	L	84	ENSP00000238497:Q84L	ENSP00000238497:Q84L	Q	-	2	0	VPS4B	59228548	1.000000	0.71417	0.953000	0.39169	0.157000	0.22087	1.916000	0.39986	2.244000	0.73946	0.533000	0.62120	CAG			0.383	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256198.2		NM_004869	
AD000091.2	0	broad.mit.edu	37	19	15726757	15726758	+	lincRNA	INS	-	-	GA			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:15726757_15726758insGA	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA																							ctcattcctcttcccactcatt	0.55																																					.													.	CYP4F8	64		0			.																																											11283	.			TTCCTCTTCCCAC																													19.37:g.15726757_15726758insGA			Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	19	0.37	7	.	0		0		RNA	INS	ENST00000589196.2	37																																																																																						0.550	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000460896.2			
AD000091.2	0	broad.mit.edu	37	19	15726759	15726760	+	lincRNA	INS	-	-	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:15726759_15726760insA	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA																							cattcctcttcccactcattcc	0.55																																					.													.	CYP4F8	64		0			.																																											11283	.			CCTCTTCCCACTC																													19.37:g.15726759_15726760insA			Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	18	0.39	7	.	0		0		RNA	INS	ENST00000589196.2	37																																																																																						0.550	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000460896.2			
AD000091.2	0	broad.mit.edu	37	19	15726760	15726761	+	lincRNA	INS	-	-	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:15726760_15726761insT	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA																							attcctcttcccactcattcct	0.545																																					.													.	CYP4F8	64		0			.																																											11283	.			CTCTTCCCACTCA																													19.37:g.15726760_15726761insT			Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	17	0.41	7	.	0		0		RNA	INS	ENST00000589196.2	37																																																																																						0.545	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000460896.2			
ZNF296	162979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	45575017	45575017	+	Missense_Mutation	SNP	C	C	G	rs368413069		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:45575017C>G	ENST00000303809.2	-	3	1484	c.1270G>C	c.(1270-1272)Gcc>Ccc	p.A424P		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	424					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTGCTCTGGGCGCAGGCGTAG	0.657																																					p.A424P													.	.			0			c.G1270C												54.0	56.0	55.0					19																	45575017		2203	4300	6503	SO:0001583	missense	162979	exon3			TCTGGGCGCAGGC	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.1270G>C	19.37:g.45575017C>G	ENSP00000302770:p.Ala424Pro		Somatic	49	0	0		WXS	Illumina HiSeq	.	47	0.23	11	NM_145288	86	0.26	22		Missense_Mutation	SNP	ENST00000303809.2	37	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298549	0.60195	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.08008	3.14	5.91	3.67	0.42095	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.112688	0.40222	N	0.001147	T	0.07369	0.0186	N	0.20483	0.58	0.50171	D	0.999853	D	0.52996	0.957	P	0.49887	0.625	T	0.25779	-1.0122	10	0.52906	T	0.07	-24.7733	4.3808	0.11293	0.1587:0.6044:0.1535:0.0833	.	424	Q8WUU4	ZN296_HUMAN	P	424;400	ENSP00000302770:A424P	ENSP00000302770:A424P	A	-	1	0	ZNF296	50266857	0.013000	0.17824	0.595000	0.28798	0.199000	0.23934	0.340000	0.19892	1.495000	0.48549	0.655000	0.94253	GCC			0.657	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457529.1		NM_145288	
CD3EAP	10849	mdanderson.org	37	19	45911458	45911458	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:45911458C>T	ENST00000309424.3	+	3	720	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	ERCC1_ENST00000423698.2_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.H80Y|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	78					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGGCAAGCGGCACCGCTATCG	0.617																																					p.H78Y													.	.			0			c.C232T												96.0	95.0	96.0					19																	45911458		2203	4300	6503	SO:0001583	missense	10849	exon3			AAGCGGCACCGCT	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.232C>T	19.37:g.45911458C>T	ENSP00000310966:p.His78Tyr		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_012099	102	0.01	1	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776318	0.70107	.	.	ENSG00000117877	ENST00000309424	T	0.13196	2.61	4.94	4.94	0.65067	.	0.382426	0.25968	N	0.027142	T	0.25644	0.0624	L	0.50333	1.59	0.80722	D	1	D;D	0.61697	0.987;0.99	P;P	0.56343	0.693;0.796	T	0.00603	-1.1649	10	0.62326	D	0.03	-2.1602	13.6627	0.62376	0.0:1.0:0.0:0.0	.	80;78	O15446-2;O15446	.;RPA34_HUMAN	Y	78	ENSP00000310966:H78Y	ENSP00000310966:H78Y	H	+	1	0	CD3EAP	50603298	0.635000	0.27199	1.000000	0.80357	0.948000	0.59901	0.806000	0.27126	2.287000	0.76781	0.462000	0.41574	CAC			0.617	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459538.1		NM_012099	
TULP2	7288	mdanderson.org	37	19	49398749	49398749	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:49398749G>T	ENST00000221399.3	-	5	367	c.223C>A	c.(223-225)Cct>Act	p.P75T		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	75					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CGGAGGAAAGGGTTCCCAAGG	0.592																																					p.P75T													.	.			0			c.C223A												69.0	75.0	73.0					19																	49398749		2203	4300	6503	SO:0001583	missense	7288	exon5			GGAAAGGGTTCCC	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.223C>A	19.37:g.49398749G>T	ENSP00000221399:p.Pro75Thr		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_003323	5	0.00	0	Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001846	0.35320	.	.	ENSG00000104804	ENST00000221399;ENST00000522945;ENST00000520977;ENST00000522229	D;T;T	0.90197	-2.63;-0.02;-0.65	4.81	3.77	0.43336	.	0.845055	0.10682	N	0.646248	D	0.89972	0.6870	L	0.34521	1.04	0.36029	D	0.839257	D	0.64830	0.994	P	0.59221	0.854	D	0.85624	0.1266	10	0.24483	T	0.36	-7.3373	9.1589	0.37009	0.1027:0.0:0.8973:0.0	.	75	O00295	TULP2_HUMAN	T	75;72;56;31	ENSP00000221399:P75T;ENSP00000430040:P72T;ENSP00000428535:P56T	ENSP00000221399:P75T	P	-	1	0	TULP2	54090561	1.000000	0.71417	0.669000	0.29828	0.199000	0.23934	2.007000	0.40883	1.136000	0.42199	0.549000	0.68633	CCT			0.592	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378633.1		NM_003323	
SCAF1	58506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50149824	50149824	+	Silent	SNP	G	G	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:50149824G>A	ENST00000360565.3	+	5	427	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	101					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CAGGGCTGGTGAGTGTCCTGG	0.642																																					p.V101V													.	.			0			c.G303A												71.0	65.0	67.0					19																	50149824		2203	4300	6503	SO:0001819	synonymous_variant	58506	exon5			GCTGGTGAGTGTC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.303G>A	19.37:g.50149824G>A			Somatic	63	0	0		WXS	Illumina HiSeq	.	55	0.24	13	NM_021228	118	0.09	11	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	CCDS33074.1																																																																																					0.642	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465764.1		NM_021228	
ADAM17	6868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	9661415	9661415	+	Missense_Mutation	SNP	T	T	G			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr2:9661415T>G	ENST00000310823.3	-	8	1056	c.874A>C	c.(874-876)Aaa>Caa	p.K292Q		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	292	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCACCAGGTTTTACCTCTTGT	0.378																																					p.K292Q													.	.			0			c.A874C												221.0	205.0	211.0					2																	9661415		2203	4300	6503	SO:0001583	missense	6868	exon8			CAGGTTTTACCTC	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.874A>C	2.37:g.9661415T>G	ENSP00000309968:p.Lys292Gln		Somatic	121	0	0		WXS	Illumina HiSeq	.	141	0.29	41	NM_003183	73	0.40	29	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172496	0.38315	.	.	ENSG00000151694	ENST00000310823	D	0.86627	-2.15	5.63	5.63	0.86233	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.293133	0.42548	D	0.000688	T	0.70316	0.3210	N	0.05306	-0.075	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.65327	-0.6195	10	0.14252	T	0.57	.	8.5283	0.33317	0.0:0.0697:0.1316:0.7986	.	292;292	B2RNB2;P78536	.;ADA17_HUMAN	Q	292	ENSP00000309968:K292Q	ENSP00000309968:K292Q	K	-	1	0	ADAM17	9578866	0.146000	0.22672	1.000000	0.80357	0.996000	0.88848	2.304000	0.43655	2.276000	0.75962	0.454000	0.30748	AAA			0.378	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206857.1			
LPIN1	23175	broad.mit.edu	37	2	11935590	11935590	+	Silent	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr2:11935590G>T	ENST00000256720.2	+	13	1848	c.1755G>T	c.(1753-1755)ccG>ccT	p.P585P	LPIN1_ENST00000449576.2_Silent_p.P670P|LPIN1_ENST00000396097.1_Silent_p.P315P|LPIN1_ENST00000425416.2_Silent_p.P591P|LPIN1_ENST00000404113.2_Silent_p.P86P|LPIN1_ENST00000396099.1_Silent_p.P627P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	585					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAGAGCAACCGCCGCAGCTCA	0.552																																					p.P670P													.	LPIN1	99		0			c.G2010T												63.0	62.0	62.0					2																	11935590		2203	4300	6503	SO:0001819	synonymous_variant	23175	exon15			GCAACCGCCGCAG	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1755G>T	2.37:g.11935590G>T			Somatic	294	0	0		WXS	Illumina HiSeq	Phase_I	250	0.02	6	NM_001261428	83	0.00	0	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																					0.552	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239296.3		NM_145693	
CAD	790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	27455982	27455982	+	Missense_Mutation	SNP	C	C	G			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr2:27455982C>G	ENST00000403525.1	+	18	2920	c.2776C>G	c.(2776-2778)Ctc>Gtc	p.L926V	CAD_ENST00000264705.4_Missense_Mutation_p.L989V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTGATCGACTCTACTTTGA	0.493																																					p.L989V													.	.			0			c.C2965G												220.0	176.0	191.0					2																	27455982		2203	4300	6503	SO:0001583	missense	790	exon19			GATCGACTCTACT	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2776C>G	2.37:g.27455982C>G	ENSP00000384510:p.Leu926Val		Somatic	97	0	0		WXS	Illumina HiSeq	.	98	0.28	27	NM_004341	165	0.37	61	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	28.5	4.929403	0.92389	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97620	-4.46;-4.46	5.44	5.44	0.79542	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98565	1.0643	10	0.87932	D	0	0.1306	18.0044	0.89205	0.0:1.0:0.0:0.0	.	926;989	F8VPD4;P27708	.;PYR1_HUMAN	V	989;926	ENSP00000264705:L989V;ENSP00000384510:L926V	ENSP00000264705:L989V	L	+	1	0	CAD	27309486	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.011000	0.76359	2.837000	0.97791	0.655000	0.94253	CTC			0.493	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000324970.1			
AC010149.4	0	broad.mit.edu	37	2	231434447	231434447	+	RNA	DEL	G	G	-	rs371243211|rs143142393|rs372432106		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr2:231434447delG	ENST00000455357.1	-	0	437				AC010149.4_ENST00000414539.1_RNA																							caccacagctggttttttttt	0.423																																					.													.	.			0			.																																											0	.			ACAGCTGGTTTTT																													2.37:g.231434447delG			Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	20	0.50	10	.	0		0		RNA	DEL	ENST00000455357.1	37																																																																																						0.423	AC010149.4-002	KNOWN	basic	antisense	antisense		OTTHUMT00000332369.1			
GFRA4	64096	mdanderson.org	37	20	3644039	3644039	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr20:3644039C>T	ENST00000319242.3	-	1	7	c.8G>A	c.(7-9)cGc>cAc	p.R3H	GFRA4_ENST00000290417.2_Missense_Mutation_p.R3H			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	3					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CCCCAGGCAGCGGACCATGCT	0.632																																					p.R3H													.	.			0			c.G8A												45.0	44.0	45.0					20																	3644039		2202	4299	6501	SO:0001583	missense	64096	exon1			AGGCAGCGGACCA	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"""persephin receptor"""					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.8G>A	20.37:g.3644039C>T	ENSP00000313423:p.Arg3His		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	31	0.10	3	NM_145762	0		0	Q5JT74|Q9H191|Q9H192	Missense_Mutation	SNP	ENST00000319242.3	37	CCDS13056.1	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466414	0.04476	.	.	ENSG00000125861	ENST00000290417;ENST00000319242	.	.	.	3.14	-6.28	0.02020	.	0.427222	0.21489	N	0.073701	T	0.09291	0.0229	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09228	-1.0684	9	0.30078	T	0.28	-0.3082	4.3445	0.11126	0.2547:0.219:0.0:0.5263	.	3;3;3	Q9GZZ7-3;Q9GZZ7;Q9GZZ7-2	.;GFRA4_HUMAN;.	H	3	.	ENSP00000290417:R3H	R	-	2	0	GFRA4	3592039	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.696000	0.00827	-1.955000	0.01023	-0.390000	0.06520	CGC			0.632	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000077744.1		NM_145762	
DTD1	92675	mdanderson.org	37	20	18724893	18724893	+	Silent	SNP	G	G	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr20:18724893G>A	ENST00000377452.3	+	5	807	c.627G>A	c.(625-627)ccG>ccA	p.P209P		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	209					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						AACGGGAGCCGTAGCTCAGGA	0.547																																					p.P209P													DTD1,caecum,carcinoma,+2,2	DTD1	2	2	0			c.G627A												55.0	48.0	50.0					20																	18724893		2203	4300	6503	SO:0001819	synonymous_variant	92675	exon5			GGAGCCGTAGCTC	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.627G>A	20.37:g.18724893G>A			Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_080820	82	0.00	0	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	ENST00000377452.3	37	CCDS13138.1																																																																																					0.547	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078189.3		NM_080820	
CLDN14	23562	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	21	37833709	37833709	+	Silent	SNP	G	G	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr21:37833709G>A	ENST00000399137.1	-	3	1151	c.285C>T	c.(283-285)tgC>tgT	p.C95C	CLDN14_ENST00000399139.1_Silent_p.C95C|CLDN14_ENST00000399135.1_Silent_p.C95C|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000342108.2_Silent_p.C95C|CLDN14_ENST00000399136.1_Silent_p.C95C	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	95					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						CGGCGCAGGCGCAGGCTATGC	0.672																																					p.C95C													CLDN14,NS,carcinoma,0,1	CLDN14	0	1	0			c.C285T												50.0	46.0	47.0					21																	37833709		2203	4299	6502	SO:0001819	synonymous_variant	23562	exon3			GCAGGCGCAGGCT	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.285C>T	21.37:g.37833709G>A			Somatic	49	0.0204081633	1		WXS	Illumina HiSeq	.	63	0.08	5	NM_144492	0		0		Silent	SNP	ENST00000399137.1	37	CCDS13645.1																																																																																					0.672	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194697.1		NM_144492	
PIK3IP1	113791	broad.mit.edu	37	22	31685584	31685584	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr22:31685584G>T	ENST00000215912.5	-	4	592	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	PIK3IP1_ENST00000441972.1_Missense_Mutation_p.L137M|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.L58M|PIK3IP1_ENST00000402249.3_Missense_Mutation_p.L137M|RP3-400N23.6_ENST00000440456.1_RNA	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	137					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						CGAGCGGGCAGGGCGTTGGCA	0.627																																					p.L137M													.	PIK3IP1	20		0			c.C409A												26.0	16.0	20.0					22																	31685584		2193	4280	6473	SO:0001583	missense	113791	exon4			CGGGCAGGGCGTT	BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.409C>A	22.37:g.31685584G>T	ENSP00000215912:p.Leu137Met		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	95	0.04	4	NM_001135911	24	0.00	0	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	ENST00000215912.5	37	CCDS13893.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644294	0.47258	.	.	ENSG00000100100	ENST00000215912;ENST00000416925;ENST00000441972;ENST00000487265;ENST00000402249	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.49	2.29	0.28610	.	0.413038	0.26792	N	0.022475	T	0.60444	0.2269	M	0.61703	1.905	0.23649	N	0.997209	D;D;D;D	0.89917	0.989;1.0;0.993;0.979	P;D;P;P	0.91635	0.781;0.999;0.891;0.707	T	0.45556	-0.9253	10	0.59425	D	0.04	-8.7357	8.5872	0.33666	0.2849:0.0:0.7151:0.0	.	137;137;58;137	B4DRR9;Q96FE7-2;D1MEI0;Q96FE7	.;.;.;P3IP1_HUMAN	M	137;115;137;58;137	ENSP00000215912:L137M;ENSP00000415608:L137M;ENSP00000441361:L58M;ENSP00000385204:L137M	ENSP00000215912:L137M	L	-	1	2	PIK3IP1	30015584	1.000000	0.71417	0.868000	0.34077	0.437000	0.31866	2.094000	0.41719	1.333000	0.45449	-0.140000	0.14226	CTG			0.627	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321939.1		NM_052880	
IL2RB	3560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	37540125	37540125	+	Splice_Site	SNP	C	C	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr22:37540125C>T	ENST00000216223.5	-	2	286	c.88G>A	c.(88-90)Ggc>Agc	p.G30S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	30					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGTCCTCACCATTCACCGCT	0.607																																					p.G30S													.	.			0			c.G88A												44.0	36.0	38.0					22																	37540125		2133	4161	6294	SO:0001630	splice_region_variant	3560	exon2			CCTCACCATTCAC	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.88+1G>A	22.37:g.37540125C>T			Somatic	108	0	0		WXS	Illumina HiSeq	.	131	0.34	45	NM_000878	63	0.03	2	B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	9.405	1.078978	0.20227	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	4.75	3.73	0.42828	.	0.548929	0.18768	N	0.131695	D	0.89185	0.6643	N	0.22421	0.69	0.29450	N	0.858555	B	0.33171	0.4	B	0.30855	0.121	T	0.83174	-0.0092	9	.	.	.	-14.29	8.9266	0.35643	0.0:0.8954:0.0:0.1046	.	30	P14784	IL2RB_HUMAN	S	30	ENSP00000216223:G30S;ENSP00000403731:G30S;ENSP00000402685:G30S;ENSP00000401020:G30S	.	G	-	1	0	IL2RB	35870071	0.966000	0.33281	0.778000	0.31720	0.014000	0.08584	2.316000	0.43761	1.116000	0.41820	0.555000	0.69702	GGC			0.607	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318792.1			Missense_Mutation
MST1R	4486	mdanderson.org	37	3	49940406	49940406	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr3:49940406G>T	ENST00000296474.3	-	1	664	c.637C>A	c.(637-639)Cca>Aca	p.P213T	CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Missense_Mutation_p.P213T	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	213	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACTGAGCGTGGGCTGAAGCTG	0.602																																					p.P213T													.	.			0			c.C637A												25.0	27.0	26.0					3																	49940406		2203	4300	6503	SO:0001583	missense	4486	exon1			AGCGTGGGCTGAA	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.637C>A	3.37:g.49940406G>T	ENSP00000296474:p.Pro213Thr		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_001244937	21	0.00	0	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795851	0.50208	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.04406	3.63;3.63	4.92	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.169088	0.56097	D	0.000035	T	0.19446	0.0467	M	0.74881	2.28	0.43426	D	0.995585	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.982;0.999;0.982;0.988;0.999	T	0.00579	-1.1661	10	0.40728	T	0.16	-16.9103	13.2299	0.59936	0.0779:0.0:0.9221:0.0	.	213;213;213;213;213	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	T	213	ENSP00000296474:P213T;ENSP00000341325:P213T	ENSP00000296474:P213T	P	-	1	0	MST1R	49915410	1.000000	0.71417	0.941000	0.38009	0.133000	0.20885	4.889000	0.63171	1.063000	0.40649	-0.258000	0.10820	CCA			0.602	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000345403.1			
HYAL2	8692	bcgsc.ca	37	3	50357082	50357082	+	Missense_Mutation	SNP	C	C	T	rs367865916		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr3:50357082C>T	ENST00000447092.1	-	1	3131	c.839G>A	c.(838-840)cGc>cAc	p.R280H	TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000357750.4_Missense_Mutation_p.R280H|HYAL2_ENST00000395139.3_Missense_Mutation_p.R280H|HYAL2_ENST00000442581.1_Missense_Mutation_p.R280H			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	280					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATGGTGGGTGCGAGCCACACG	0.612																																					p.R280H													.	HYAL2	31		0			c.G839A							C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	59.0	58.0		839,839	0.4	0.0	3		58	0,8598		0,0,4299	no	missense,missense	HYAL2	NM_003773.4,NM_033158.4	29,29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	280/474,280/474	50357082	1,13003	2203	4299	6502	SO:0001583	missense	8692	exon3			TGGGTGCGAGCCA	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.839G>A	3.37:g.50357082C>T	ENSP00000401853:p.Arg280His		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_1	50	0.08	4	NM_033158	267	0.00	1	B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	4.336	0.061794	0.08339	2.27E-4	0.0	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.75	0.447	0.16608	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.645425	0.17895	N	0.158389	T	0.15825	0.0381	L	0.31752	0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.19811	-1.0294	10	0.33940	T	0.23	-8.7703	8.3442	0.32263	0.0:0.3492:0.0:0.6508	.	280;280	B3KRZ2;Q12891	.;HYAL2_HUMAN	H	280	ENSP00000401853:R280H;ENSP00000350387:R280H;ENSP00000378571:R280H;ENSP00000406657:R280H	ENSP00000350387:R280H	R	-	2	0	HYAL2	50332086	0.246000	0.23909	0.028000	0.17463	0.000000	0.00434	0.754000	0.26390	0.396000	0.25283	-0.455000	0.05494	CGC			0.612	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346391.1		NM_003773	
MRPL3	11222	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	131220418	131220419	+	Frame_Shift_Del	DEL	AC	AC	-	rs200877052		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr3:131220418_131220419delAC	ENST00000264995.3	-	2	380_381	c.233_234delGT	c.(232-234)tgtfs	p.C78fs	MRPL3_ENST00000425847.2_Frame_Shift_Del_p.C105fs|MRPL3_ENST00000506946.1_5'Flank	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	78					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTTCAGAGGACACAGTTTACT	0.411																																					p.78_79del													.	MRPL3	32		0			c.234_235del																																									SO:0001589	frameshift_variant	11222	exon2			CAGAGGACACAGT	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.233_234delGT	3.37:g.131220420_131220421delAC	ENSP00000264995:p.Cys78fs		Somatic	212	0	0		WXS	Illumina HiSeq	.	184	0.26	47	NM_007208	192	0.00	0	Q6IBT2	Frame_Shift_Del	DEL	ENST00000264995.3	37	CCDS3071.1																																																																																					0.411	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356471.3		NM_007208	
LINC00969	440993	broad.mit.edu	37	3	195412436	195412440	+	lincRNA	DEL	AAAGC	AAAGC	-	rs200034737|rs201662460		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	AAAGC	AAAGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr3:195412436_195412440delAAAGC	ENST00000445430.1	+	0	3633_3637									long intergenic non-protein coding RNA 969																		gcatttttgtaaagcaaagcactga	0.4																																					.													.	.			0			.																																											0	.			TTTTGTAAAGCAA	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412441_195412445delAAAGC			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	41	0.00	0		RNA	DEL	ENST00000445430.1	37																																																																																						0.400	LINC00969-038	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000341951.1			
HERC6	55008	hgsc.bcm.edu	37	4	89304513	89304513	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr4:89304513G>T	ENST00000264346.7	+	2	399	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	HERC6_ENST00000273960.3_Nonsense_Mutation_p.E114*|HERC6_ENST00000380265.5_Nonsense_Mutation_p.E114*	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	114					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAATTCAAGGAAATAAGTTT	0.488																																					p.E114X													HERC6_ENST00000264346,NS,carcinoma,0,2	HERC6_ENST00000264346	0	2	0			c.G340T												69.0	74.0	72.0					4																	89304513		1903	4112	6015	SO:0001587	stop_gained	55008	exon2			TTCAAGGAAATAA	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.340G>T	4.37:g.89304513G>T	ENSP00000264346:p.Glu114*		Somatic	109	0	0		WXS	Illumina HiSeq	.	80	0.05	4	NM_017912	31	0.00	0	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Nonsense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.958640|5.958640	0.97145|0.97145	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346|ENST00000502870	.|.	.|.	.|.	4.47|4.47	3.53|3.53	0.40419|0.40419	.|.	0.474372|.	0.19898|.	N|.	0.103579|.	.|T	.|0.41743	.|0.1172	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48980	.|-0.8986	.|3	0.16896|.	T|.	0.51|.	.|.	6.4452|6.4452	0.21871|0.21871	0.1065:0.0:0.7079:0.1856|0.1065:0.0:0.7079:0.1856	.|.	.|.	.|.	.|.	X|S	114|78	.|.	ENSP00000264346:E114X|.	E|R	+|+	1|3	0|2	HERC6|HERC6	89523536|89523536	0.026000|0.026000	0.19158|0.19158	0.972000|0.972000	0.41901|0.41901	0.950000|0.950000	0.60333|0.60333	0.563000|0.563000	0.23547|0.23547	2.336000|2.336000	0.79503|0.79503	0.485000|0.485000	0.47835|0.47835	GAA|AGG			0.488	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000363259.2			
ENPEP	2028	mdanderson.org	37	4	111397903	111397903	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr4:111397903G>T	ENST00000265162.5	+	1	675	c.333G>T	c.(331-333)gaG>gaT	p.E111D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	111					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CCCTGTTGGAGGAGGACACCT	0.627																																					p.E111D													.	.			0			c.G333T												97.0	101.0	99.0					4																	111397903		2203	4300	6503	SO:0001583	missense	2028	exon1			GTTGGAGGAGGAC	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.333G>T	4.37:g.111397903G>T	ENSP00000265162:p.Glu111Asp		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_001977	12	0.00	0	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578778	0.13686	.	.	ENSG00000138792	ENST00000265162	T	0.04119	3.7	5.83	1.63	0.23807	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.337803	0.29924	N	0.010844	T	0.03783	0.0107	L	0.39020	1.185	0.25602	N	0.986587	B	0.13594	0.008	B	0.19666	0.026	T	0.42292	-0.9460	10	0.23302	T	0.38	.	5.2139	0.15332	0.3814:0.1461:0.4725:0.0	.	111	Q07075	AMPE_HUMAN	D	111	ENSP00000265162:E111D	ENSP00000265162:E111D	E	+	3	2	ENPEP	111617352	0.010000	0.17322	0.785000	0.31869	0.002000	0.02628	0.086000	0.14935	0.382000	0.24878	-0.305000	0.09177	GAG			0.627	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255747.2			
CDH18	1016	broad.mit.edu	37	5	19838939	19838939	+	Missense_Mutation	SNP	T	T	C			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr5:19838939T>C	ENST00000507958.1	-	5	1147	c.157A>G	c.(157-159)Agg>Ggg	p.R53G	CDH18_ENST00000506372.1_Missense_Mutation_p.R53G|CDH18_ENST00000274170.4_Missense_Mutation_p.R53G|CDH18_ENST00000502796.1_Missense_Mutation_p.R53G|CDH18_ENST00000511273.1_Missense_Mutation_p.R53G|CDH18_ENST00000382275.1_Missense_Mutation_p.R53G			Q13634	CAD18_HUMAN	cadherin 18, type 2	53					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCCATCCCCTTTTGGGACGA	0.413																																					p.R53G													.	CDH18	561		0			c.A157G												179.0	151.0	161.0					5																	19838939		2203	4300	6503	SO:0001583	missense	1016	exon3			ATCCCCTTTTGGG	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.157A>G	5.37:g.19838939T>C	ENSP00000425093:p.Arg53Gly		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	73	0.04	3	NM_001167667	2	0.00	0	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485661	0.84854	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.00585	6.39;6.39;6.39;6.39;6.39;6.39	5.93	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	M	0.87682	2.9	0.46222	D	0.998936	D;P	0.89917	1.0;0.881	D;P	0.71184	0.972;0.452	T	0.27806	-1.0063	9	.	.	.	.	10.4264	0.44380	0.0:0.0:0.3314:0.6686	.	53;53	B4DHG6;Q13634	.;CAD18_HUMAN	G	53	ENSP00000371710:R53G;ENSP00000425093:R53G;ENSP00000274170:R53G;ENSP00000424931:R53G;ENSP00000422138:R53G;ENSP00000425854:R53G	.	R	-	1	2	CDH18	19874696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.894000	0.75655	2.263000	0.75096	0.533000	0.62120	AGG			0.413	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366747.1		NM_004934	
LOC202181	202181	broad.mit.edu	37	5	177099140	177099140	+	RNA	SNP	T	T	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr5:177099140T>A	ENST00000515045.1	-	0	70					NR_026921.1																						GATCACGATGTAATCCTCCAT	0.756																																					.													.	.			0			.																																											0	.			ACGATGTAATCCT																													5.37:g.177099140T>A			Somatic	27	0.037037037	1		WXS	Illumina HiSeq	Phase_I	25	0.16	4	.	0		0		RNA	SNP	ENST00000515045.1	37																																																																																						0.756	RP11-1277A3.2-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000373167.1			
PHF3	23469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	6	64423074	64423074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr6:64423074C>T	ENST00000262043.3	+	16	5930	c.5590C>T	c.(5590-5592)Cag>Tag	p.Q1864*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.Q1864*			Q92576	PHF3_HUMAN	PHD finger protein 3	1864	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCTCCCAGGTCAGCCACAGCG	0.512																																					p.Q1864X	GBM(135;136 1820 29512 34071 46235)												.	.			0			c.C5590T												106.0	112.0	110.0					6																	64423074		2203	4300	6503	SO:0001587	stop_gained	23469	exon15			CCAGGTCAGCCAC	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5590C>T	6.37:g.64423074C>T	ENSP00000262043:p.Gln1864*		Somatic	83	0	0		WXS	Illumina HiSeq	.	71	0.20	14	NM_015153	117	0.27	32	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	44	10.752368	0.99461	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	.	.	.	5.97	5.97	0.96955	.	0.000000	0.37304	N	0.002147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.1299	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	1864	.	.	Q	+	1	0	PHF3	64481033	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	6.076000	0.71267	2.836000	0.97738	0.655000	0.94253	CAG			0.512	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041086.2			
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																					.													.	.			0			.																																											0	.			TCTTGCGCAGAAT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T			Somatic	96	0.0104166667	1		WXS	Illumina HiSeq	Phase_I	154	0.03	4	.	31	0.00	0		RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345507.1		NR_003110	
ZAN	7455	broad.mit.edu	37	7	100349994	100349994	+	RNA	SNP	C	C	A	rs221829		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr7:100349994C>A	ENST00000348028.3	+	0	2431				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P756T(8)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACC	0.517																																					.													ZAN_ENST00000542585,NS,carcinoma,0,6	ZAN	658	6	8	Substitution - Missense(8)	endometrium(4)|lung(2)|skin(2)	.												119.0	132.0	128.0					7																	100349994		1818	4059	5877			7455	.			ATCTCCCCAGAAA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349994C>A			Somatic	77	0.025974026	2		WXS	Illumina HiSeq	Phase_I	128	0.06	8	.	18	0.00	0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	c	6.303	0.423974	0.11928	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.60040	0.43;0.22;0.43	4.07	-8.15	0.01065	.	.	.	.	.	T	0.19046	0.0457	N	0.01140	-0.99	0.19575	N	0.999965	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14062	-1.0486	9	0.26408	T	0.33	.	3.2868	0.06935	0.2668:0.4393:0.0778:0.2161	rs221829;rs2406149;rs221829	756;756	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	756	ENSP00000445943:P756T;ENSP00000445091:P756T;ENSP00000444427:P756T	ENSP00000423579:P756T	P	+	1	0	ZAN	100187930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.034000	0.03567	-1.458000	0.01916	-0.996000	0.02517	CCA			0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347214.1		NM_003386	
PRKAR2B	5577	mdanderson.org	37	7	106685519	106685519	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr7:106685519G>T	ENST00000265717.4	+	1	426	c.167G>T	c.(166-168)aGg>aTg	p.R56M		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	56	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CATGAGGGCAGGACCTGGGGG	0.721																																					p.R56M													.	.			0			c.G167T												4.0	5.0	4.0					7																	106685519		1992	3969	5961	SO:0001583	missense	5577	exon1			AGGGCAGGACCTG		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.167G>T	7.37:g.106685519G>T	ENSP00000265717:p.Arg56Met		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	13	0.15	2	NM_002736	52	0.00	0	A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987528	0.35036	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.81659	-1.52	4.02	2.08	0.27032	.	0.429172	0.19490	N	0.113011	T	0.57227	0.2039	N	0.08118	0	0.29641	N	0.844698	B	0.27068	0.167	B	0.23716	0.048	T	0.53542	-0.8424	10	0.48119	T	0.1	-13.7235	4.1959	0.10443	0.181:0.0:0.5067:0.3123	.	56	P31323	KAP3_HUMAN	M	56	ENSP00000265717:R56M	ENSP00000265717:R56M	R	+	2	0	PRKAR2B	106472755	0.184000	0.23200	1.000000	0.80357	0.943000	0.58893	0.161000	0.16481	0.919000	0.36945	0.456000	0.33151	AGG			0.721	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268386.1			
MOS	4342	bcgsc.ca;mdanderson.org	37	8	57025695	57025695	+	Missense_Mutation	SNP	G	G	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr8:57025695G>A	ENST00000311923.1	-	1	846	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			ATGTGCTGCCGCTCCCCCGAA	0.627																																					p.R283W	Esophageal Squamous(124;373 2870 4778)												.	MOS	63		0			c.C847T												45.0	44.0	44.0					8																	57025695		2203	4300	6503	SO:0001583	missense	4342	exon1			GCTGCCGCTCCCC		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.847C>T	8.37:g.57025695G>A	ENSP00000310722:p.Arg283Trp		Somatic	106	0	0		WXS	Illumina HiSeq	Phase_1	87	0.06	5	NM_005372	0		0	Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928254	0.52759	.	.	ENSG00000172680	ENST00000311923	D	0.93659	-3.26	5.8	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.141224	0.46758	D	0.000272	D	0.95465	0.8527	L	0.60455	1.87	0.47778	D	0.999517	D	0.76494	0.999	D	0.64595	0.927	D	0.95850	0.8874	10	0.87932	D	0	.	16.0536	0.80779	0.0:0.0:0.8648:0.1352	.	283	P00540	MOS_HUMAN	W	283	ENSP00000310722:R283W	ENSP00000310722:R283W	R	-	1	2	MOS	57188249	1.000000	0.71417	0.386000	0.26170	0.162000	0.22319	2.757000	0.47557	1.427000	0.47276	0.561000	0.74099	CGG			0.627	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378174.1		NM_005372	
KIAA1429	25962	ucsc.edu	37	8	95538916	95538916	+	Missense_Mutation	SNP	G	G	A			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr8:95538916G>A	ENST00000297591.5	-	8	1631	c.1556C>T	c.(1555-1557)gCt>gTt	p.A519V	KIAA1429_ENST00000421249.2_Missense_Mutation_p.A519V|KIAA1429_ENST00000437199.1_Missense_Mutation_p.A519V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	519					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTTAAAAAAGCTTCCATTCC	0.363																																					p.A519V													.	KIAA1429	176		0			c.C1556T												62.0	63.0	63.0					8																	95538916		2203	4300	6503	SO:0001583	missense	25962	exon8			AAAAAAGCTTCCA	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1556C>T	8.37:g.95538916G>A	ENSP00000297591:p.Ala519Val		Somatic	86	0	0		RNA-Seq	Illumina HiSeq		86	0.01	1	NM_015496	94	0.12	11	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101507	0.20632	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46451	0.87;0.87;0.87	5.67	3.7	0.42460	.	0.329491	0.31257	N	0.007963	T	0.19287	0.0463	N	0.12182	0.205	0.37188	D	0.90379	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.10894	-1.0610	10	0.27785	T	0.31	-9.5782	2.3622	0.04310	0.201:0.1369:0.5031:0.159	.	519;519	Q69YN4-4;Q69YN4	.;VIR_HUMAN	V	519	ENSP00000297591:A519V;ENSP00000395600:A519V;ENSP00000398390:A519V	ENSP00000297591:A519V	A	-	2	0	KIAA1429	95608092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.452000	0.52971	1.400000	0.46741	0.563000	0.77884	GCT			0.363	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378720.2		NM_015496	
PHF2	5253	mdanderson.org	37	9	96438062	96438062	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr9:96438062G>T	ENST00000359246.4	+	20	3190	c.2823G>T	c.(2821-2823)ttG>ttT	p.L941F	PHF2_ENST00000375376.4_Missense_Mutation_p.L172F	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	941					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAGCTAAGTTGTCCCAGCAGG	0.657																																					p.L941F													.	.			0			c.G2823T												62.0	52.0	55.0					9																	96438062		2203	4300	6503	SO:0001583	missense	5253	exon20			TAAGTTGTCCCAG	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2823G>T	9.37:g.96438062G>T	ENSP00000352185:p.Leu941Phe		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	20	0.10	2	NM_005392	75	0.00	0	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119038	0.37436	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.61274	0.12;0.12	5.13	-1.89	0.07689	.	0.293483	0.29715	N	0.011395	T	0.55955	0.1953	L	0.38175	1.15	0.49687	D	0.999819	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.56739	-0.7929	10	0.72032	D	0.01	-14.9127	1.976	0.03416	0.2002:0.2363:0.3828:0.1808	.	360;941	Q8N359;O75151	.;PHF2_HUMAN	F	941;172	ENSP00000352185:L941F;ENSP00000364525:L172F	ENSP00000352185:L941F	L	+	3	2	PHF2	95477883	0.048000	0.20356	0.991000	0.47740	0.590000	0.36582	-0.887000	0.04152	-0.351000	0.08249	-0.268000	0.10319	TTG			0.657	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053162.1		NM_005392	
CCDC180	100499483	mdanderson.org	37	9	100092984	100092984	+	Missense_Mutation	SNP	A	A	G	rs201085376		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr9:100092984A>G	ENST00000357054.1	+	32	3693	c.2758A>G	c.(2758-2760)Aag>Gag	p.K920E	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.K781E|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.K781E|CCDC180_ENST00000411667.2_Missense_Mutation_p.K778E			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	920	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ggaggaggagaagctggagga	0.498																																					p.K781E													KIAA1529,caecum,carcinoma,0,4	KIAA1529	0	4	0			c.A2341G												64.0	76.0	72.0					9																	100092984		2203	4300	6503	SO:0001583	missense	0	exon18			GAGGAGAAGCTGG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2758A>G	9.37:g.100092984A>G	ENSP00000349562:p.Lys920Glu		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	21	0.14	3	NM_020893	2	0.00	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	A	1.674	-0.508279	0.04231	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.08008	3.46;3.14;3.46;3.14	1.9	0.972	0.19704	.	1.506390	0.04483	N	0.378176	T	0.04227	0.0117	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.37220	-0.9715	10	0.06757	T	0.87	2.8577	4.1072	0.10041	0.2217:0.0:0.7783:0.0	.	804;778;920;781;920	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	E	920;781;778;804;781	ENSP00000349562:K920E;ENSP00000364348:K781E;ENSP00000414000:K778E;ENSP00000434727:K781E	ENSP00000349562:K920E	K	+	1	0	C9orf174	99132805	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.421000	0.07053	0.367000	0.24454	-0.394000	0.06481	AAG			0.498	CCDC180-201	KNOWN	basic	protein_coding	protein_coding				NM_020893	
SYTL5	94122	mdanderson.org	37	X	37966002	37966002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chrX:37966002G>T	ENST00000357972.5	+	11	1858	c.1312G>T	c.(1312-1314)Gaa>Taa	p.E438*	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Nonsense_Mutation_p.E438*|SYTL5_ENST00000456733.2_Nonsense_Mutation_p.E460*			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	438	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CATAGGAGATGAAAAGAAACA	0.408																																					p.E460X													.	.			0			c.G1378T												119.0	96.0	104.0					X																	37966002		2202	4299	6501	SO:0001587	stop_gained	94122	exon11			GGAGATGAAAAGA		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1312G>T	X.37:g.37966002G>T	ENSP00000350657:p.Glu438*		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	113	0.04	5	NM_001163334	56	0.00	0	A2RRF2	Nonsense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	44	10.748973	0.99460	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-19.5879	18.8337	0.92151	0.0:0.0:1.0:0.0	.	.	.	.	X	438;438;460	.	ENSP00000297875:E438X	E	+	1	0	SYTL5	37850946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.394000	0.81467	0.594000	0.82650	GAA			0.408	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000080883.1		NM_138780	
ARHGAP4	393	mdanderson.org	37	X	153173197	153173197	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chrX:153173197G>T	ENST00000350060.5	-	22	2868	c.2827C>A	c.(2827-2829)Ccc>Acc	p.P943T	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.P983T|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P765T|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P922T|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P920T	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	943					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGCTTGGGGGTCGTGTCT	0.721																																					p.P983T													.	.			0			c.C2947A												10.0	13.0	12.0					X																	153173197		2048	4080	6128	SO:0001583	missense	393	exon23			GCTTGGGGGTCGT	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2827C>A	X.37:g.153173197G>T	ENSP00000203786:p.Pro943Thr		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_001164741	104	0.00	0	Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.239821	0.22711	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.09073	3.04;3.03;3.04;3.02;3.04	3.83	-0.559	0.11792	.	1.407440	0.05134	N	0.493135	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	B;B	0.23650	0.089;0.037	B;B	0.26969	0.075;0.047	T	0.41998	-0.9477	10	0.52906	T	0.07	.	1.8357	0.03139	0.1144:0.1668:0.375:0.3439	.	983;943	Q86UY3;P98171	.;RHG04_HUMAN	T	765;983;943;922;920	ENSP00000377322:P765T;ENSP00000359045:P983T;ENSP00000203786:P943T;ENSP00000359033:P922T;ENSP00000444169:P920T	ENSP00000203786:P943T	P	-	1	0	ARHGAP4	152826391	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.304000	0.08199	-0.389000	0.07786	0.418000	0.28097	CCC			0.721	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061119.1		NM_001666	
