#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
ACAP3	116983	broad.mit.edu	37	1	1229472	1229472	+	Silent	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:1229472G>T	ENST00000354700.5	-	22	2449	c.2247C>A	c.(2245-2247)acC>acA	p.T749T	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Silent_p.T674T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	749					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGTCTCACCCGGTGCGGCCCA	0.726																																					p.T749T													.	ACAP3	87		0			c.C2247A												12.0	15.0	14.0					1																	1229472		2109	4133	6242	SO:0001819	synonymous_variant	116983	exon22			TCACCCGGTGCGG	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2247C>A	1.37:g.1229472G>T			Somatic	148	0	0		WXS	Illumina HiSeq	Phase_I	129	0.03	4	NM_030649	44	0.00	0	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	CCDS19.2																																																																																					0.726	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006366.2		NM_030649	
MIB2	142678	mdanderson.org	37	1	1565765	1565765	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:1565765G>T	ENST00000357210.4	+	20	3113	c.2897G>T	c.(2896-2898)cGc>cTc	p.R966L	MIB2_ENST00000518681.1_Missense_Mutation_p.R958L|MIB2_ENST00000378708.1_Missense_Mutation_p.R872L|MIB2_ENST00000505820.2_Missense_Mutation_p.R1023L|MIB2_ENST00000360522.4_Missense_Mutation_p.R931L|MIB2_ENST00000378712.1_3'UTR|MIB2_ENST00000520777.1_Missense_Mutation_p.R1019L|MIB2_ENST00000504599.1_Missense_Mutation_p.R922L|MIB2_ENST00000378710.3_Missense_Mutation_p.R930L|MMP23B_ENST00000378675.3_5'Flank|MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000355826.5_Missense_Mutation_p.R1009L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	966					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGGAGGAACGCATCACCTGC	0.746																																					p.R1023L													.	.			0			c.G3068T												7.0	10.0	9.0					1																	1565765		1972	4019	5991	SO:0001583	missense	142678	exon20			AGGAACGCATCAC	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2897G>T	1.37:g.1565765G>T	ENSP00000349741:p.Arg966Leu		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	28	0.11	3	NM_080875	50	0.00	0	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37		.	.	.	.	.	.	.	.	.	.	-	18.08	3.543074	0.65198	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000504599;ENST00000378708	D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	3.78	3.78	0.43462	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	D	0.84401	0.5464	N	0.21373	0.66	0.58432	D	0.999999	P;D;D;D;D;D	0.89917	0.938;1.0;0.972;1.0;1.0;0.997	P;D;P;D;D;D	0.91635	0.808;0.999;0.846;0.999;0.999;0.951	D	0.85342	0.1096	10	0.45353	T	0.12	-22.5625	14.7753	0.69726	0.0:0.0:1.0:0.0	.	931;872;958;1019;952;966	Q96AX9-5;F2Z2L2;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;MIB2_HUMAN	L	1019;966;931;930;1009;958;1023;922;872	ENSP00000428660:R1019L;ENSP00000349741:R966L;ENSP00000353713:R931L;ENSP00000367982:R930L;ENSP00000348081:R1009L;ENSP00000428264:R958L;ENSP00000426103:R1023L;ENSP00000426128:R922L;ENSP00000367980:R872L	ENSP00000348081:R1009L	R	+	2	0	MIB2	1555628	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	5.676000	0.68131	1.924000	0.55735	0.450000	0.29827	CGC			0.746	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_080875	
SLC2A5	6518	mdanderson.org	37	1	9101770	9101770	+	Intron	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:9101770G>A	ENST00000377424.4	-	5	751				SLC2A5_ENST00000536305.1_Intron|SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Silent_p.S215S	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5						carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGTGGTGGCTTTGGAACA	0.577																																					p.S215S													.	.			0			c.C645T												64.0	63.0	63.0					1																	9101770		692	1591	2283	SO:0001627	intron_variant	6518	exon5			GTGGTGGCTTTGG	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.571+73C>T	1.37:g.9101770G>A			Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_001135585	0		0	Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	CCDS99.1																																																																																					0.577	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004932.1		NM_003039	
MFAP2	4237	mdanderson.org	37	1	17298008	17298008	+	IGR	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:17298008G>T	ENST00000375535.3	-	0	1260				CROCC_ENST00000375541.5_Missense_Mutation_p.V1945L|MFAP2_ENST00000490075.1_5'Flank			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2						extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCAGCTGGAGGTGGATGCGCA	0.711																																					p.V1945L													.	.			0			c.G5833T												5.0	7.0	6.0					1																	17298008		2012	3911	5923	SO:0001628	intergenic_variant	9696	exon36			CTGGAGGTGGATG	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290		1.37:g.17298008G>T			Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	10	0.20	2	NM_014675	64	0.00	0	Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	CCDS174.1	.	.	.	.	.	.	.	.	.	.	G	3.473	-0.107459	0.06924	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09255	3.0	3.87	2.92	0.33932	.	.	.	.	.	T	0.06416	0.0165	N	0.12182	0.205	0.23254	N	0.998032	B;B;B	0.30236	0.274;0.274;0.175	B;B;B	0.37833	0.188;0.065;0.259	T	0.42882	-0.9425	9	0.09843	T	0.71	.	6.6903	0.23167	0.227:0.0:0.773:0.0	.	1826;1248;1945	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	L	1945;1826	ENSP00000364691:V1945L	ENSP00000364691:V1945L	V	+	1	0	CROCC	17170595	0.993000	0.37304	0.497000	0.27552	0.249000	0.25844	2.248000	0.43160	1.905000	0.55150	0.491000	0.48974	GTG			0.711	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000006609.1		NM_002403	
ATP8B2	57198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	154321404	154321404	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:154321404G>T	ENST00000368489.3	+	28	3482	c.3482G>T	c.(3481-3483)gGc>gTc	p.G1161V		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1147					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGGCGCTCCGGCTATGCCTTC	0.657																																					p.G1161V													.	.			0			c.G3482T												27.0	31.0	30.0					1																	154321404		2203	4300	6503	SO:0001583	missense	57198	exon28			GCTCCGGCTATGC	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3482G>T	1.37:g.154321404G>T	ENSP00000357475:p.Gly1161Val		Somatic	139	0	0		WXS	Illumina HiSeq	.	196	0.36	70	NM_020452	113	0.28	32	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699172	0.68501	.	.	ENSG00000143515	ENST00000368489	T	0.44083	0.93	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000002	T	0.57213	0.2038	M	0.79258	2.445	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.64993	-0.6276	10	0.87932	D	0	.	15.1107	0.72355	0.0:0.0:1.0:0.0	.	1161	P98198-3	.	V	1161	ENSP00000357475:G1161V	ENSP00000357475:G1161V	G	+	2	0	ATP8B2	152588028	1.000000	0.71417	0.950000	0.38849	0.533000	0.34776	5.348000	0.66004	2.116000	0.64780	0.561000	0.74099	GGC			0.657	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087658.2		NM_020452	
LYST	1130	broad.mit.edu	37	1	235922371	235922371	+	Missense_Mutation	SNP	C	C	T	rs147791378	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:235922371C>T	ENST00000389794.3	-	23	6956	c.6782G>A	c.(6781-6783)cGt>cAt	p.R2261H	LYST_ENST00000389793.2_Missense_Mutation_p.R2261H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTTGGCCAACGGCCAACAGC	0.478													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18065	0.0		0.0	False		,,,				2504	0.0				p.R2261H													.	LYST	370		0			c.G6782A							C	HIS/ARG	0,4406		0,0,2203	73.0	69.0	71.0		6782	2.9	0.0	1	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LYST	NM_000081.2	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	2261/3802	235922371	4,13002	2203	4300	6503	SO:0001583	missense	1130	exon23			GGCCAACGGCCAA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6782G>A	1.37:g.235922371C>T	ENSP00000374444:p.Arg2261His		Somatic	128	0	0		WXS	Illumina HiSeq	Phase_I	162	0.02	4	NM_000081	5	0.00	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	20.4	3.990142	0.74589	0.0	4.65E-4	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67171	-0.25;-0.25	4.93	2.86	0.33363	.	0.597834	0.18240	N	0.147275	T	0.60830	0.2299	M	0.63428	1.95	0.80722	D	1	D	0.63046	0.992	P	0.47346	0.544	T	0.68078	-0.5504	10	0.72032	D	0.01	.	13.4206	0.60996	0.3351:0.6649:0.0:0.0	.	2261	Q99698	LYST_HUMAN	H	2261	ENSP00000374444:R2261H;ENSP00000374443:R2261H	ENSP00000374443:R2261H	R	-	2	0	LYST	233988994	0.597000	0.26874	0.034000	0.17996	0.911000	0.54048	1.232000	0.32636	0.447000	0.26695	0.558000	0.71614	CGT			0.478	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097533.5			
ARMC3	219681	broad.mit.edu	37	10	23297852	23297852	+	Silent	SNP	A	A	G			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr10:23297852A>G	ENST00000298032.5	+	16	2121	c.2037A>G	c.(2035-2037)aaA>aaG	p.K679K	ARMC3_ENST00000409049.3_Silent_p.K679K|ARMC3_ENST00000409983.3_Silent_p.K672K|ARMC3_ENST00000376528.4_Silent_p.K416K	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	679						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAAAGAAAAAGGATGGAGGT	0.478																																					p.K679K													.	ARMC3	102		0			c.A2037G												43.0	39.0	41.0					10																	23297852		2203	4300	6503	SO:0001819	synonymous_variant	219681	exon16			AGAAAAAGGATGG	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2037A>G	10.37:g.23297852A>G			Somatic	355	0	0		WXS	Illumina HiSeq	Phase_I	335	0.01	5	NM_173081	0		0	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	CCDS7142.1																																																																																					0.478	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047197.2		NM_173081	
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																					.													.	.			0			.																																											0	.			GATAACAAACTGG	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G			Somatic	64	0.015625	1		WXS	Illumina HiSeq	Phase_I	43	0.09	4	.	0		0		RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000461126.1		NG_016765	
SPOCK2	9806	mdanderson.org	37	10	73822859	73822859	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr10:73822859G>T	ENST00000373109.2	-	10	1497	c.1053C>A	c.(1051-1053)agC>agA	p.S351R	SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000536168.1_Missense_Mutation_p.S351R|SPOCK2_ENST00000317376.4_Missense_Mutation_p.S351R	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	351	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGTCACCGCTGCTCTGGTCAC	0.657																																					p.S351R													.	.			0			c.C1053A												49.0	32.0	38.0					10																	73822859		2186	4261	6447	SO:0001583	missense	9806	exon10			ACCGCTGCTCTGG	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.1053C>A	10.37:g.73822859G>T	ENSP00000362201:p.Ser351Arg		Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	54	0.06	3	NM_001244950	49	0.00	0	C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082918	0.76642	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.63255	-0.03;-0.03	5.12	3.22	0.36961	Thyroglobulin type-1 (6);	0.385921	0.33813	N	0.004526	T	0.63271	0.2497	M	0.68728	2.09	0.80722	D	1	P	0.48998	0.918	P	0.49140	0.601	T	0.62992	-0.6736	10	0.87932	D	0	.	6.2017	0.20579	0.0743:0.1347:0.6514:0.1396	.	351	Q92563	TICN2_HUMAN	R	348;351;351	ENSP00000321108:S351R;ENSP00000439445:S351R	ENSP00000321108:S351R	S	-	3	2	SPOCK2	73492865	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	6.590000	0.74085	0.528000	0.28580	-0.304000	0.09214	AGC			0.657	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048560.2			
FBXO3	26273	broad.mit.edu	37	11	33772131	33772131	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr11:33772131G>T	ENST00000265651.3	-	8	904	c.886C>A	c.(886-888)Ctt>Att	p.L296I	FBXO3_ENST00000448981.2_Missense_Mutation_p.L296I|FBXO3_ENST00000531080.1_5'UTR|FBXO3_ENST00000530401.1_Missense_Mutation_p.L291I|FBXO3_ENST00000526785.1_Missense_Mutation_p.L183I|FBXO3_ENST00000534136.1_Missense_Mutation_p.L296I|FBXO3_ENST00000532057.1_5'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	296	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACAGAGCTAAGTTCTGGCAGA	0.388																																					p.L296I													.	FBXO3	37		0			c.C886A												144.0	139.0	141.0					11																	33772131		2202	4298	6500	SO:0001583	missense	26273	exon8			AGCTAAGTTCTGG	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.886C>A	11.37:g.33772131G>T	ENSP00000265651:p.Leu296Ile		Somatic	151	0	0		WXS	Illumina HiSeq	Phase_I	159	0.03	4	NM_012175	33	0.00	0	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755422	0.89843	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T;T	0.48522	0.81;0.84;0.86;0.86;0.87	5.58	4.66	0.58398	ApaG domain (4);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	L	0.46157	1.445	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.63328	-0.6662	10	0.66056	D	0.02	-17.2247	14.8446	0.70251	0.0703:0.0:0.9297:0.0	.	291;296;296	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	I	183;296;291;296;296	ENSP00000435680:L183I;ENSP00000265651:L296I;ENSP00000433781:L291I;ENSP00000431745:L296I;ENSP00000408836:L296I	ENSP00000265651:L296I	L	-	1	0	FBXO3	33728707	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.230000	0.95299	2.650000	0.89964	0.591000	0.81541	CTT			0.388	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388665.1		NM_012175	
XRRA1	143570	mdanderson.org	37	11	74559215	74559215	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr11:74559215G>T	ENST00000340360.6	-	15	1980	c.1649C>A	c.(1648-1650)cCa>cAa	p.P550Q	RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.P275Q|XRRA1_ENST00000527087.1_Missense_Mutation_p.P463Q	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGCGCTCTGGGCTGAGGCG	0.592																																					p.P550Q													.	.			0			c.C1649A												76.0	79.0	78.0					11																	74559215		2141	4231	6372	SO:0001583	missense	143570	exon15			CGCTCTGGGCTGA	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1649C>A	11.37:g.74559215G>T	ENSP00000339918:p.Pro550Gln		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_182969	14	0.00	0		Missense_Mutation	SNP	ENST00000340360.6	37	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937203	0.73557	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.52983	0.68;1.44;0.64	4.29	3.38	0.38709	.	0.856527	0.10241	N	0.698387	T	0.61862	0.2381	L	0.60455	1.87	0.21740	N	0.99956	D;D;D;D;D;D;D	0.89917	0.966;1.0;0.999;0.994;0.98;0.989;0.98	P;D;D;P;P;P;P	0.72075	0.564;0.976;0.956;0.862;0.663;0.885;0.663	T	0.45906	-0.9229	10	0.59425	D	0.04	-2.5362	8.0199	0.30404	0.1089:0.0:0.8911:0.0	.	550;152;106;463;494;160;536	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	Q	550;275;536;494;463	ENSP00000339918:P550Q;ENSP00000319303:P275Q;ENSP00000435838:P463Q	ENSP00000319303:P275Q	P	-	2	0	XRRA1	74236863	0.881000	0.30235	0.615000	0.29064	0.740000	0.42216	1.291000	0.33330	1.404000	0.46819	0.591000	0.81541	CCA			0.592	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384715.1		NM_182969	
DSCAML1	57453	mdanderson.org	37	11	117389460	117389460	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr11:117389460C>T	ENST00000321322.6	-	7	1412	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V201I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	411	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AAGGACGAGACGATGCGGGGC	0.687																																					p.V471I													.	.			0			c.G1411A												24.0	25.0	25.0					11																	117389460		2199	4295	6494	SO:0001583	missense	57453	exon7			ACGAGACGATGCG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1411G>A	11.37:g.117389460C>T	ENSP00000315465:p.Val471Ile		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_020693	0		0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	5.990	0.366603	0.11352	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.39406	1.08;1.08	4.3	1.06	0.20224	Immunoglobulin I-set (1);Immunoglobulin-like (1);	.	.	.	.	T	0.20047	0.0482	N	0.17723	0.515	0.41956	D	0.990681	B;B	0.06786	0.001;0.001	B;B	0.17098	0.006;0.017	T	0.19877	-1.0292	9	0.02654	T	1	.	6.2114	0.20631	0.0:0.5952:0.1394:0.2654	.	201;411	G3V1B5;Q8TD84	.;DSCL1_HUMAN	I	201;471;178	ENSP00000434335:V201I;ENSP00000315465:V471I	ENSP00000315465:V471I	V	-	1	0	DSCAML1	116894670	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.119000	0.31258	0.422000	0.26005	0.555000	0.69702	GTC			0.687	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693	
KMT2A	4297	mdanderson.org	37	11	118373743	118373743	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr11:118373743G>T	ENST00000389506.5	+	27	7127	c.7127G>T	c.(7126-7128)aGg>aTg	p.R2376M	KMT2A_ENST00000354520.4_Missense_Mutation_p.R2338M|KMT2A_ENST00000534358.1_Missense_Mutation_p.R2379M			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2376					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGAGGGCAAAGGAATGATCGA	0.453																																					p.R2379M													.	.			0			c.G7136T												95.0	96.0	96.0					11																	118373743		2200	4296	6496	SO:0001583	missense	4297	exon27			GGCAAAGGAATGA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7127G>T	11.37:g.118373743G>T	ENSP00000374157:p.Arg2376Met		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_001197104	15	0.00	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161349	0.21538	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83755	-1.76;-1.76;-1.72	5.19	3.19	0.36642	.	0.114219	0.64402	D	0.000019	T	0.71854	0.3389	N	0.14661	0.345	0.45035	D	0.998055	D;D	0.56287	0.975;0.975	P;P	0.45946	0.498;0.498	T	0.75379	-0.3338	10	0.72032	D	0.01	.	10.2234	0.43212	0.2283:0.0:0.7717:0.0	.	2379;2376	E9PQG7;Q03164	.;MLL1_HUMAN	M	2379;2376;2338;1286	ENSP00000436786:R2379M;ENSP00000374157:R2376M;ENSP00000346516:R2338M	ENSP00000346516:R2338M	R	+	2	0	MLL	117878953	1.000000	0.71417	0.919000	0.36401	0.943000	0.58893	2.333000	0.43912	1.419000	0.47118	0.563000	0.77884	AGG			0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399085.2		NM_005933	
RP11-561P12.5	0	broad.mit.edu	37	12	8718254	8718255	+	lincRNA	INS	-	-	A	rs35942136|rs397767858|rs530682498		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:8718254_8718255insA	ENST00000542819.1	-	0	120																											tccctcactgcaaaaaaaacac	0.376																																					.													.	.			0			.																																											0	.			TCACTGCAAAAAA																													12.37:g.8718262_8718262dupA			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	7	0.43	3	.	0		0		RNA	INS	ENST00000542819.1	37																																																																																						0.376	RP11-561P12.5-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000400654.1			
PRH2	5555	broad.mit.edu	37	12	11083460	11083460	+	Silent	SNP	T	T	C			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:11083460T>C	ENST00000396400.3	+	3	338	c.300T>C	c.(298-300)caT>caC	p.H100H	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Silent_p.H100H	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	100						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						AGGGAGGCCATCCCCCTCCTC	0.647																																					p.H100H													.	PRH2	18		0			c.T300C												64.0	71.0	69.0					12																	11083460		2199	4270	6469	SO:0001819	synonymous_variant	5555	exon3			AGGCCATCCCCCT		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.300T>C	12.37:g.11083460T>C			Somatic	521	0.009596929	5		WXS	Illumina HiSeq	Phase_I	1456	0.01	19	NM_001110213	6	0.00	0	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	ENST00000396400.3	37	CCDS8636.1																																																																																					0.647	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400231.1		NM_001110213	
TUBA1C	84790	ucsc.edu	37	12	49666152	49666152	+	Silent	SNP	G	G	A	rs199599214	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:49666152G>A	ENST00000301072.6	+	4	767	c.492G>A	c.(490-492)aaG>aaA	p.K164K	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.K234K	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	164					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K164K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						ATGGCAAGAAGTCCAAGCTGG	0.547																																					p.K164K													TUBA1C,colon,carcinoma,0,1	TUBA1C	32	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A												56.0	58.0	57.0					12																	49666152		2203	4300	6503	SO:0001819	synonymous_variant	84790	exon4			CAAGAAGTCCAAG	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.492G>A	12.37:g.49666152G>A			Somatic	296	0.0743243243	22		RNA-Seq	Illumina HiSeq		326	0.08	27	NM_032704	1333	0.60	803		Silent	SNP	ENST00000301072.6	37	CCDS8782.1																																																																																					0.547	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404424.1		NM_032704	
LARP4	113251	broad.mit.edu	37	12	50869341	50869341	+	Silent	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:50869341C>T	ENST00000398473.2	+	16	1981	c.1869C>T	c.(1867-1869)tgC>tgT	p.C623C	LARP4_ENST00000429001.3_Silent_p.C629C|LARP4_ENST00000293618.8_Silent_p.C552C|LARP4_ENST00000347328.5_Silent_p.C552C|LARP4_ENST00000518444.1_Silent_p.C622C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	623					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CTGAAGTGTGCCAGAAGCCCC	0.393																																					p.C623C													.	LARP4	58		0			c.C1869T												193.0	193.0	193.0					12																	50869341		1822	4090	5912	SO:0001819	synonymous_variant	113251	exon16			AGTGTGCCAGAAG	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1869C>T	12.37:g.50869341C>T			Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	142	0.03	4	NM_052879	64	0.00	0	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	37	CCDS41782.1																																																																																					0.393	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000374981.1		NM_052879	
NACA	4666	broad.mit.edu	37	12	57112386	57112386	+	Silent	SNP	A	A	G			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:57112386A>G	ENST00000454682.1	-	3	3209	c.2928T>C	c.(2926-2928)ggT>ggC	p.G976G	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	976	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGTAGCTGGACCTCCTTTTG	0.657			T	BCL6	NHL																																.				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA	131		0			.												34.0	41.0	39.0					12																	57112386		1395	3223	4618	SO:0001819	synonymous_variant	4666	.			AGCTGGACCTCCT	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2928T>C	12.37:g.57112386A>G			Somatic	69	0.0289855072	2		WXS	Illumina HiSeq	Phase_I	62	0.08	5	.	0		0		Silent	SNP	ENST00000454682.1	37																																																																																						0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding				NM_005594	
RASSF3	283349	mdanderson.org	37	12	65004442	65004442	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:65004442G>T	ENST00000542104.1	+	1	150	c.30G>T	c.(28-30)gaG>gaT	p.E10D	RASSF3_ENST00000540088.1_3'UTR|RASSF3_ENST00000336061.2_Missense_Mutation_p.E10D|RP11-338E21.1_ENST00000546135.1_RNA	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	10					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GCCTGGAGGAGGACGCCGAGG	0.751																																					p.E10D													.	.			0			c.G30T												22.0	24.0	23.0					12																	65004442		2200	4298	6498	SO:0001583	missense	283349	exon1			GGAGGAGGACGCC		CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.30G>T	12.37:g.65004442G>T	ENSP00000443021:p.Glu10Asp		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_178169	13	0.00	0	Q86WH1	Missense_Mutation	SNP	ENST00000542104.1	37	CCDS8969.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924739	0.34002	.	.	ENSG00000153179	ENST00000542104;ENST00000336061	T;T	0.15952	2.38;2.38	2.49	1.57	0.23409	.	0.094225	0.41500	U	0.000862	T	0.23766	0.0575	L	0.33753	1.03	0.33973	D	0.647043	D	0.63880	0.993	D	0.67548	0.952	T	0.20338	-1.0278	9	.	.	.	-8.4444	8.8234	0.35041	0.1195:0.0:0.8805:0.0	.	10	Q86WH2	RASF3_HUMAN	D	10	ENSP00000443021:E10D;ENSP00000336616:E10D	.	E	+	3	2	RASSF3	63290709	0.991000	0.36638	0.999000	0.59377	0.903000	0.53119	0.064000	0.14437	0.385000	0.24970	0.298000	0.19748	GAG			0.751	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401161.1			
C1QTNF9	338872	hgsc.bcm.edu	37	13	24895902	24895902	+	Missense_Mutation	SNP	C	C	A	rs530287667	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr13:24895902C>A	ENST00000382071.2	+	4	1083	c.998C>A	c.(997-999)cCg>cAg	p.P333Q	AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.P333Q|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	333	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TTCAGCAGCCCGTGACAGAGG	0.453													C|||	3	0.000599042	0.0	0.0	5008	,	,		18131	0.001		0.0	False		,,,				2504	0.002				p.P333Q													C1QTNF9,bladder,carcinoma,0,1	C1QTNF9	0	1	0			c.C998A												100.0	108.0	105.0					13																	24895902		2203	4300	6503	SO:0001583	missense	338872	exon4			GCAGCCCGTGACA	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.998C>A	13.37:g.24895902C>A	ENSP00000371503:p.Pro333Gln		Somatic	109	0.0183486239	2		WXS	Illumina HiSeq	.	88	0.07	6	NM_178540	1	0.00	0	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842333	0.32513	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.90324	-2.65;-2.65	3.53	-2.97	0.05530	Tumour necrosis factor-like (1);Complement C1q protein (1);	2.280360	0.02327	N	0.073533	T	0.80433	0.4622	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67011	-0.5778	10	0.87932	D	0	.	2.2666	0.04080	0.4242:0.198:0.2782:0.0995	.	333	P0C862	C1T9A_HUMAN	Q	333	ENSP00000371503:P333Q;ENSP00000333737:P333Q	ENSP00000333737:P333Q	P	+	2	0	C1QTNF9	23793902	0.077000	0.21312	0.001000	0.08648	0.011000	0.07611	0.085000	0.14912	-0.409000	0.07553	-0.687000	0.03738	CCG			0.453	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044177.1		NM_178540	
PCCA	5095	mdanderson.org	37	13	100959515	100959515	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr13:100959515G>T	ENST00000376285.1	+	15	1391		c.e15+1		PCCA_ENST00000376286.4_Splice_Site|PCCA_ENST00000376279.3_Splice_Site	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide						biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GATTTCAAAAGTTAGTTTAAT	0.308																																					.													.	.			0			c.1353+1G>T												78.0	78.0	78.0					13																	100959515		2203	4300	6503	SO:0001630	splice_region_variant	5095	exon15			TCAAAAGTTAGTT	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1353+1G>T	13.37:g.100959515G>T			Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_001178004	0		0	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Splice_Site	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460848	0.63513	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000443601;ENST00000376254	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8826	0.96904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCCA	99757516	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	8.876000	0.92379	2.779000	0.95612	0.585000	0.79938	.			0.308	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045627.2			Intron
PCK2	5106	mdanderson.org	37	14	24566126	24566126	+	Silent	SNP	T	T	C	rs543597068		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr14:24566126T>C	ENST00000216780.4	+	2	323	c.55T>C	c.(55-57)Ttg>Ctg	p.L19L	NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000396973.4_Silent_p.L19L|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Silent_p.L31L|NRL_ENST00000396997.1_5'Flank	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	19					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCTGAGCCCCTTGGGCTGGCC	0.547																																					p.L19L													.	.			0			c.T55C												104.0	91.0	95.0					14																	24566126		2203	4300	6503	SO:0001819	synonymous_variant	5106	exon2			AGCCCCTTGGGCT	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.55T>C	14.37:g.24566126T>C			Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	62	0.05	3	NM_001018073	49	0.00	0	O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	CCDS9609.1																																																																																					0.547	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071900.3		NM_001018073	
MIA2	117153	broad.mit.edu	37	14	39716705	39716705	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr14:39716705G>T	ENST00000280082.3	+	4	1126	c.927G>T	c.(925-927)tgG>tgT	p.W309C	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.W309C|MIA2_ENST00000556784.1_Missense_Mutation_p.W308C	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	309					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CCACTGGTTGGTTTGGTGGAG	0.408																																					p.W309C													.	MIA2	82		0			c.G927T												125.0	126.0	125.0					14																	39716705		2203	4300	6503	SO:0001583	missense	0	exon4			TGGTTGGTTTGGT	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.927G>T	14.37:g.39716705G>T	ENSP00000280082:p.Trp309Cys		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	97	0.03	3	NM_054024	1	0.00	0	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926919	0.73327	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.65916	-0.07;-0.18;2.8	5.47	5.47	0.80525	.	0.000000	0.40469	N	0.001082	T	0.79311	0.4424	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78486	-0.2185	9	.	.	.	-24.9693	19.3321	0.94295	0.0:0.0:1.0:0.0	.	309;309	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	C	309;308;309	ENSP00000280082:W309C;ENSP00000451934:W308C;ENSP00000452252:W309C	.	W	+	3	0	MIA2;RP11-407N17.3	38786456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.275000	0.72594	2.583000	0.87209	0.650000	0.86243	TGG			0.408	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000276768.3		NM_054024	
DPH6	89978	mdanderson.org	37	15	35703064	35703064	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr15:35703064A>G	ENST00000256538.4	-	6	565	c.539T>C	c.(538-540)cTg>cCg	p.L180P	DPH6_ENST00000560386.1_5'Flank	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	180					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										CATTTGATCCAGGGTTTTCCC	0.343																																					p.L180P													ATPBD4,NS,carcinoma,+1,1	ATPBD4	1	1	0			c.T539C												134.0	142.0	139.0					15																	35703064		2201	4296	6497	SO:0001583	missense	89978	exon6			TGATCCAGGGTTT		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.539T>C	15.37:g.35703064A>G	ENSP00000256538:p.Leu180Pro		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	22	0.14	3	NM_080650	18	0.00	0	B3KWG1|Q96HJ6	Missense_Mutation	SNP	ENST00000256538.4	37	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734776	0.69189	.	.	ENSG00000134146	ENST00000256538	T	0.52057	0.68	5.31	5.31	0.75309	Domain of unknown function DUF71, ATP-binding domain (2);	0.077789	0.56097	D	0.000040	T	0.77130	0.4085	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84237	0.0470	10	0.87932	D	0	-3.9724	13.9812	0.64306	1.0:0.0:0.0:0.0	.	180	Q7L8W6	ATBD4_HUMAN	P	180	ENSP00000256538:L180P	ENSP00000256538:L180P	L	-	2	0	ATPBD4	33490356	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.930000	0.75858	2.230000	0.72887	0.467000	0.42956	CTG			0.343	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251973.1		NM_080650	
CASC5	57082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	40949336	40949336	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr15:40949336A>T	ENST00000346991.5	+	24	7049	c.6659A>T	c.(6658-6660)cAt>cTt	p.H2220L	CASC5_ENST00000399668.2_Missense_Mutation_p.H2194L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2220	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		acaacccagcatcagttaccc	0.373																																					p.H2220L													.	.			0			c.A6659T												46.0	45.0	46.0					15																	40949336		1835	4084	5919	SO:0001583	missense	57082	exon24			CCCAGCATCAGTT	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6659A>T	15.37:g.40949336A>T	ENSP00000335463:p.His2220Leu		Somatic	146	0	0		WXS	Illumina HiSeq	.	220	0.22	49	NM_170589	34	0.41	14	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346355	0.41599	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.05199	3.48;3.48	5.73	3.21	0.36854	.	0.497570	0.18377	U	0.143085	T	0.05090	0.0136	L	0.31294	0.92	0.29455	N	0.858174	P;P	0.37207	0.587;0.587	B;B	0.34242	0.178;0.178	T	0.17379	-1.0371	10	0.51188	T	0.08	.	8.7545	0.34637	0.6981:0.0:0.0:0.3019	.	2194;2220	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	L	2220;2194	ENSP00000335463:H2220L;ENSP00000382576:H2194L	ENSP00000335463:H2220L	H	+	2	0	CASC5	38736628	1.000000	0.71417	0.982000	0.44146	0.270000	0.26580	1.935000	0.40173	0.946000	0.37632	0.533000	0.62120	CAT			0.373	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390224.2		NM_144508	
IGFALS	3483	broad.mit.edu	37	16	1840814	1840814	+	Silent	SNP	A	A	C	rs144587967		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr16:1840814A>C	ENST00000215539.3	-	2	1715	c.1605T>G	c.(1603-1605)ggT>ggG	p.G535G	IGFALS_ENST00000415638.3_Silent_p.G573G			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	535					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CCCAGGGGTTACCCTCCAGCC	0.692																																					p.G573G													.	IGFALS	29		0			c.T1719G												15.0	13.0	14.0					16																	1840814		2124	4218	6342	SO:0001819	synonymous_variant	3483	exon2			GGGGTTACCCTCC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1605T>G	16.37:g.1840814A>C			Somatic	52	0.1538461538	8		WXS	Illumina HiSeq	Phase_I	56	0.23	13	NM_001146006	2	0.00	0	B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	CCDS10446.1																																																																																					0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250509.2			
MT3	4504	bcgsc.ca	37	16	56623785	56623785	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr16:56623785G>T	ENST00000200691.4	+	2	258	c.35G>T	c.(34-36)gGc>gTc	p.G12V	MT3_ENST00000570176.1_Missense_Mutation_p.G12V|MT3_ENST00000565838.1_Missense_Mutation_p.G25V|MT3_ENST00000561640.1_Missense_Mutation_p.G57V|MT3_ENST00000566576.1_3'UTR	NM_005954.2	NP_005945.1	P25713	MT3_HUMAN	metallothionein 3	12	Beta.				activation of protein kinase B activity (GO:0032148)|astrocyte development (GO:0014002)|cadmium ion homeostasis (GO:0055073)|cell proliferation (GO:0008283)|cellular lipid catabolic process (GO:0044242)|cellular metal ion homeostasis (GO:0006875)|cellular response to cadmium ion (GO:0071276)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular zinc ion homeostasis (GO:0006882)|cholesterol catabolic process (GO:0006707)|energy reserve metabolic process (GO:0006112)|ERK1 and ERK2 cascade (GO:0070371)|histone modification (GO:0016570)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of axon extension (GO:0030517)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of lysosomal membrane permeability (GO:0097214)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of oxygen metabolic process (GO:2000376)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of protein glycosylation (GO:0060049)|regulation of response to food (GO:0032095)|removal of superoxide radicals (GO:0019430)|response to hypoxia (GO:0001666)|zinc ion homeostasis (GO:0055069)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|inclusion body (GO:0016234)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	antioxidant activity (GO:0016209)|cadmium ion binding (GO:0046870)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|drug binding (GO:0008144)|protein kinase activator activity (GO:0030295)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)	2						TCTCTAGGTGGCTCCTGCACC	0.642																																					p.G12V													.	MT3	6		0			c.G35T												82.0	68.0	73.0					16																	56623785		2198	4300	6498	SO:0001583	missense	4504	exon2			TAGGTGGCTCCTG	BC035624	CCDS10762.1	16q13	2008-02-05	2007-01-26		ENSG00000087250	ENSG00000087250		"""Metallothioneins"""	7408	protein-coding gene	gene with protein product		139255	"""metallothionein 3 (growth inhibitory factor (neurotrophic))"""			1631128	Standard	NM_005954		Approved	GIF	uc002ejf.3	P25713	OTTHUMG00000133282	ENST00000200691.4:c.35G>T	16.37:g.56623785G>T	ENSP00000200691:p.Gly12Val		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_1	146	0.04	6	NM_005954	1	0.00	0	Q2V574	Missense_Mutation	SNP	ENST00000200691.4	37	CCDS10762.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101241	0.37048	.	.	ENSG00000087250	ENST00000200691	T	0.16073	2.37	4.71	4.71	0.59529	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21552	-1.0242	9	0.54805	T	0.06	-10.1844	13.0349	0.58864	0.0:0.0:1.0:0.0	.	12	P25713	MT3_HUMAN	V	12	ENSP00000200691:G12V	ENSP00000200691:G12V	G	+	2	0	MT3	55181286	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.777000	0.55364	2.442000	0.82660	0.460000	0.39030	GGC			0.642	MT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257062.2		NM_005954	
CMTM2	146225	broad.mit.edu	37	16	66613759	66613759	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr16:66613759G>T	ENST00000268595.2	+	1	400	c.249G>T	c.(247-249)tgG>tgT	p.W83C	CMTM2_ENST00000379486.2_Missense_Mutation_p.W83C|RP11-403P17.2_ENST00000568430.1_RNA	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	83	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AAGAGTTCTGGCTCTTGGGGC	0.582																																					p.W83C													.	CMTM2	33		0			c.G249T												44.0	48.0	46.0					16																	66613759		2201	4300	6501	SO:0001583	missense	146225	exon1			GTTCTGGCTCTTG	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.249G>T	16.37:g.66613759G>T	ENSP00000268595:p.Trp83Cys		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	228	0.02	4	NM_001199317	1	0.00	0	Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926364	0.52759	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.72942	-0.7;1.15	4.51	4.51	0.55191	Marvel (1);	0.000000	0.50627	D	0.000117	T	0.78509	0.4294	L	0.54323	1.7	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73196	-0.4059	10	0.24483	T	0.36	-1.8128	13.0353	0.58867	0.0:0.0:1.0:0.0	.	83;83	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	C	83	ENSP00000368800:W83C;ENSP00000268595:W83C	ENSP00000268595:W83C	W	+	3	0	CMTM2	65171260	0.986000	0.35501	0.967000	0.41034	0.557000	0.35523	2.346000	0.44027	2.786000	0.95864	0.561000	0.74099	TGG			0.582	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268808.1			
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																					.													.	.			0			.																																											0	.			CTTGTCAGGGGGA																													16.37:g.74372644A>G			Somatic	114	0.0175438596	2		WXS	Illumina HiSeq	Phase_I	79	0.05	4	.	5	0.00	0		RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene		OTTHUMT00000434683.1			
PKD1L2	114780	broad.mit.edu	37	16	81188170	81188170	+	RNA	DEL	T	T	-	rs11329492	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr16:81188170delT	ENST00000525539.1	-	0	4125				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ttcttcttccttttttttttt	0.438													|||unknown(HR)	3167	0.632388	0.4637	0.6326	5008	,	,		22198	0.5397		0.7863	False		,,,				2504	0.7975				.													.	PKD1L2	361		0			.																																											114780	.			TCTTCCTTTTTTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81188170delT			Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	9	0.56	5	.	0		0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.438	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000387972.2			
NCOR1	9611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	15973655	15973655	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:15973655G>A	ENST00000268712.3	-	31	4594	c.4337C>T	c.(4336-4338)tCc>tTc	p.S1446F	NCOR1_ENST00000395851.1_Missense_Mutation_p.S1462F|NCOR1_ENST00000395857.3_Missense_Mutation_p.S30F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1446	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGTGTGCCGGGAACGCACGGT	0.532																																					p.S1462F													.	.			0			c.C4385T												211.0	187.0	195.0					17																	15973655		2203	4300	6503	SO:0001583	missense	9611	exon30			TGCCGGGAACGCA	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4337C>T	17.37:g.15973655G>A	ENSP00000268712:p.Ser1446Phe		Somatic	184	0	0		WXS	Illumina HiSeq	.	186	0.34	63	NM_001190440	54	0.39	21	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949291	0.73787	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.54279	0.58;1.18;0.63	5.82	5.82	0.92795	.	0.324240	0.38326	N	0.001740	T	0.57213	0.2038	L	0.59436	1.845	0.36640	D	0.876773	P;P;P;P	0.42337	0.776;0.661;0.612;0.731	B;B;B;B	0.42798	0.398;0.229;0.172;0.323	T	0.66991	-0.5783	10	0.87932	D	0	0.0584	19.0733	0.93148	0.0:0.0:1.0:0.0	.	257;1353;1446;1462	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	F	1446;1462;1353;30	ENSP00000268712:S1446F;ENSP00000379192:S1462F;ENSP00000379198:S30F	ENSP00000268712:S1446F	S	-	2	0	NCOR1	15914380	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	5.806000	0.69150	2.752000	0.94435	0.655000	0.94253	TCC			0.532	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131751.5		NM_006311	
TNFRSF13B	23495	broad.mit.edu	37	17	16832430	16832430	+	IGR	DEL	C	C	-			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:16832430delC	ENST00000437538.2	-	0	1397				TBC1D27_ENST00000261651.2_RNA			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B						B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						ACAGCCCCCACCCCCAACCCG	0.617									IgA Deficiency, Selective																												.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.	Familial Cancer Database	IGAD1, IGAD2	CCCCCACCCCCAA	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262		17.37:g.16832430delC			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0	B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	RNA	DEL	ENST00000437538.2	37																																																																																						0.617	TNFRSF13B-201	KNOWN	basic	protein_coding	protein_coding					
MED1	5469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	37571338	37571338	+	Silent	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:37571338G>A	ENST00000394287.3	-	16	1645	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y	MED1_ENST00000300651.6_Silent_p.Y480Y			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACAGCCCTTTGTAGAGTTTAC	0.413										HNSCC(31;0.082)																											p.Y480Y	Pancreas(21;279 768 2492 4877 24026)												.	.			0			c.C1440T												211.0	216.0	214.0					17																	37571338		2203	4300	6503	SO:0001819	synonymous_variant	5469	exon16			CCCTTTGTAGAGT	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1440C>T	17.37:g.37571338G>A			Somatic	165	0	0		WXS	Illumina HiSeq	.	198	0.29	57	NM_004774	25	0.52	13	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000394287.3	37																																																																																						0.413	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000256944.1		NM_004774	
CNP	1267	mdanderson.org	37	17	40125905	40125905	+	Missense_Mutation	SNP	G	G	T	rs372142717		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:40125905G>T	ENST00000393892.3	+	4	1373	c.1229G>T	c.(1228-1230)cGg>cTg	p.R410L	CNP_ENST00000393888.1_Missense_Mutation_p.R390L|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Missense_Mutation_p.R175L	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	410					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CAAGGTAGCCGGAAGGGGGGC	0.587																																					p.R410L													.	.			0			c.G1229T												36.0	40.0	39.0					17																	40125905		1960	4148	6108	SO:0001583	missense	1267	exon4			GTAGCCGGAAGGG		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.1229G>T	17.37:g.40125905G>T	ENSP00000377470:p.Arg410Leu		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	17	0.12	2	NM_033133	349	0.00	0		Missense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427770	0.62733	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.47177	0.85;0.85	5.19	4.22	0.49857	.	0.000000	0.41605	D	0.000857	T	0.53286	0.1787	L	0.44542	1.39	0.33555	D	0.596626	D;P	0.57257	0.979;0.8	P;P	0.59546	0.859;0.468	T	0.65919	-0.6051	10	0.62326	D	0.03	-26.7204	9.1142	0.36746	0.1725:0.0:0.8275:0.0	.	287;410	B4DI06;P09543	.;CN37_HUMAN	L	410;286;390	ENSP00000377470:R410L;ENSP00000377466:R390L	ENSP00000309643:R286L	R	+	2	0	CNP	37379431	1.000000	0.71417	0.996000	0.52242	0.749000	0.42624	1.412000	0.34714	1.193000	0.43086	0.561000	0.74099	CGG			0.587	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257443.2			
ITGA2B	3674	mdanderson.org	37	17	42463057	42463057	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:42463057C>T	ENST00000262407.5	-	4	467	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	ITGA2B_ENST00000353281.4_Missense_Mutation_p.V146I|ITGA2B_ENST00000377068.3_5'Flank	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	146					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TTTTCTAGGACGTTCCAGTGC	0.677																																					p.V146I													.	.			0			c.G436A												29.0	37.0	34.0					17																	42463057		2199	4299	6498	SO:0001583	missense	3674	exon4			CTAGGACGTTCCA		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.436G>A	17.37:g.42463057C>T	ENSP00000262407:p.Val146Ile		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_000419	0		0	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767716	0.49574	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.85258	-1.96;-1.96	5.55	4.56	0.56223	.	0.854815	0.09472	N	0.797503	T	0.80171	0.4574	M	0.63428	1.95	0.58432	D	0.999997	P	0.39094	0.659	B	0.23419	0.046	T	0.76699	-0.2863	10	0.59425	D	0.04	.	9.2272	0.37414	0.1654:0.675:0.1596:0.0	.	146	P08514	ITA2B_HUMAN	I	146	ENSP00000262407:V146I;ENSP00000340536:V146I	ENSP00000262407:V146I	V	-	1	0	ITGA2B	39818583	0.889000	0.30405	0.622000	0.29159	0.665000	0.39181	1.557000	0.36299	1.302000	0.44855	0.561000	0.74099	GTC			0.677	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439823.1			
SETBP1	26040	mdanderson.org	37	18	42529989	42529989	+	Silent	SNP	C	C	T	rs149073567	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr18:42529989C>T	ENST00000282030.5	+	4	980	c.684C>T	c.(682-684)agC>agT	p.S228S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	228						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACTCTGACAGCGGACCCGTCA	0.552									Schinzel-Giedion syndrome				C|||	3	0.000599042	0.0015	0.0	5008	,	,		18853	0.0		0.001	False		,,,				2504	0.0				p.S228S													SETBP1,NS,carcinoma,0,1	SETBP1	0	1	0			c.C684T							C		1,4405	2.1+/-5.4	0,1,2202	85.0	79.0	81.0		684	0.4	1.0	18	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SETBP1	NM_015559.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		228/1597	42529989	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	TGACAGCGGACCC	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.684C>T	18.37:g.42529989C>T			Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_015559	13	0.00	0	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																			0		0.552	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255854.4		NM_001130110	
SALL3	27164	mdanderson.org	37	18	76753274	76753274	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr18:76753274T>C	ENST00000537592.2	+	2	1283	c.1283T>C	c.(1282-1284)gTc>gCc	p.V428A	SALL3_ENST00000575389.2_Missense_Mutation_p.V428A|SALL3_ENST00000536229.3_Missense_Mutation_p.V295A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	428					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCGCCAAGGTCTTCGGCAGC	0.632																																					p.V428A													.	.			0			c.T1283C												28.0	21.0	23.0					18																	76753274		2200	4295	6495	SO:0001583	missense	27164	exon2			CCAAGGTCTTCGG	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1283T>C	18.37:g.76753274T>C	ENSP00000441823:p.Val428Ala		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	22	0.09	2	NM_171999	4	0.00	0	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203735	0.38905	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.06371	3.31	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000129	T	0.23054	0.0557	M	0.78637	2.42	0.80722	D	1	D;P	0.76494	0.999;0.95	D;D	0.77004	0.989;0.935	T	0.03875	-1.0996	10	0.23302	T	0.38	-56.5563	14.0552	0.64764	0.0:0.0:0.0:1.0	.	160;428	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	428;428;160	ENSP00000441823:V428A	ENSP00000299466:V428A	V	+	2	0	SALL3	74854262	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.803000	0.85983	1.907000	0.55213	0.377000	0.23210	GTC			0.632	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256397.1		NM_171999	
ATP9B	374868	broad.mit.edu	37	18	77013493	77013493	+	Missense_Mutation	SNP	G	G	A	rs371121796		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr18:77013493G>A	ENST00000426216.2	+	12	1237	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	RP11-1136J12.1_ENST00000591742.1_RNA|ATP9B_ENST00000307671.7_Missense_Mutation_p.R407H	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	407					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CCATGGTACCGCAATCTTTTT	0.373																																					p.R407H													.	ATP9B	96		0			c.G1220A							G	HIS/ARG	0,4406		0,0,2203	214.0	196.0	202.0		1220	5.9	1.0	18	dbSNP_134	202	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP9B	NM_198531.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	407/1148	77013493	1,13005	2203	4300	6503	SO:0001583	missense	374868	exon12			GGTACCGCAATCT	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1220G>A	18.37:g.77013493G>A	ENSP00000398076:p.Arg407His		Somatic	172	0	0		WXS	Illumina HiSeq	Phase_I	181	0.02	4	NM_198531	13	0.00	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470509	0.84533	0.0	1.16E-4	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.88818	-2.43;-2.43	5.95	5.95	0.96441	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.921	D	0.94190	0.7440	10	0.66056	D	0.02	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	407;407	O43861;O43861-2	ATP9B_HUMAN;.	H	407	ENSP00000398076:R407H;ENSP00000304500:R407H	ENSP00000304500:R407H	R	+	2	0	ATP9B	75114481	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.869000	0.69613	2.824000	0.97209	0.655000	0.94253	CGC			0.373	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256402.3		NM_198531	
ABHD17A	81926	mdanderson.org	37	19	1877409	1877409	+	Silent	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:1877409G>T	ENST00000292577.7	-	5	1156	c.723C>A	c.(721-723)tcC>tcA	p.S241S	CTB-31O20.9_ENST00000592720.1_lincRNA|ABHD17A_ENST00000590661.1_Missense_Mutation_p.P210Q|CTB-31O20.2_ENST00000565797.1_lincRNA|ABHD17A_ENST00000250974.9_Silent_p.S292S	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	241						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										ACGTGATCTTGGACACCTTCT	0.711																																					p.S292S													.	.			0			c.C876A												13.0	7.0	9.0					19																	1877409		1405	2473	3878	SO:0001819	synonymous_variant	81926	exon6			GATCTTGGACACC	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.723C>A	19.37:g.1877409G>T			Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_031213	133	0.00	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																					0.711	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415556.2		NM_031213	
TMED1	11018	mdanderson.org	37	19	10946841	10946841	+	Silent	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:10946841G>T	ENST00000214869.2	-	1	125	c.27C>A	c.(25-27)gcC>gcA	p.A9A	TMED1_ENST00000588289.1_5'Flank|C19orf38_ENST00000592854.1_5'Flank|TMED1_ENST00000591695.1_Silent_p.A9A	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	9					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						ACAAGGCCAGGGCTAGGGCCG	0.692																																					p.A9A													.	.			0			c.C27A												5.0	7.0	6.0					19																	10946841		2124	4136	6260	SO:0001819	synonymous_variant	11018	exon1			GGCCAGGGCTAGG	U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.27C>A	19.37:g.10946841G>T			Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_006858	88	0.00	0		Silent	SNP	ENST00000214869.2	37	CCDS12249.1																																																																																					0.692	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452614.1		NM_006858	
PRKCSH	5589	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	19	11558370	11558370	+	Silent	SNP	G	G	A	rs77563879		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E													PRKCSH,caecum,carcinoma,0,1	PRKCSH	0	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A												27.0	27.0	27.0					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.966G>A	19.37:g.11558370G>A			Somatic	67	0	0		WXS	Illumina HiSeq	.	81	0.07	6	NM_001001329	55	0.00	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																					0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458817.1			
MAN2B1	4125	mdanderson.org	37	19	12774209	12774209	+	Silent	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:12774209C>T	ENST00000456935.2	-	6	871	c.831G>A	c.(829-831)ccG>ccA	p.P277P	MAN2B1_ENST00000221363.4_Silent_p.P277P	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	277					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTCCACCAGCGGCTGATCGA	0.582																																					p.P277P													.	.			0			c.G831A												112.0	93.0	99.0					19																	12774209		2203	4300	6503	SO:0001819	synonymous_variant	4125	exon6			CACCAGCGGCTGA		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.831G>A	19.37:g.12774209C>T			Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	89	0.04	4	NM_000528	227	0.00	0	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	CCDS32919.1																																																																																					0.582	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000344062.1			
ZNF676	163223	ucsc.edu	37	19	22363172	22363172	+	Silent	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:22363172G>A	ENST00000397121.2	-	3	1664	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCACATTTGTAGGGTTTCT	0.438																																					p.Y449Y													.	ZNF676	146		0			c.C1347T																																									SO:0001819	synonymous_variant	163223	exon3			ACATTTGTAGGGT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1347C>T	19.37:g.22363172G>A			Somatic	64	0.03125	2		RNA-Seq	Illumina HiSeq		85	0.07	6	NM_001001411	24	0.21	5	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																					0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464392.1		NM_001001411	
RHPN2	85415	mdanderson.org	37	19	33517427	33517427	+	Silent	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:33517427G>A	ENST00000254260.3	-	3	332	c.297C>T	c.(295-297)ggC>ggT	p.G99G	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	99					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCTGATAGACGCCCACCGAGA	0.552																																					p.G99G													.	.			0			c.C297T												141.0	129.0	133.0					19																	33517427		2203	4300	6503	SO:0001819	synonymous_variant	85415	exon3			ATAGACGCCCACC	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.297C>T	19.37:g.33517427G>A			Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	24	0.17	4	NM_033103	22	0.00	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																					0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103	
HRC	3270	hgsc.bcm.edu	37	19	49657886	49657886	+	Silent	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:49657886C>T	ENST00000252825.4	-	1	795	c.609G>A	c.(607-609)gaG>gaA	p.E203E	HRC_ENST00000595625.1_Silent_p.E203E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	203	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGAGGcctcctcttcctcct	0.572																																					p.E203E	Melanoma(37;75 1097 24567 25669 30645)												.	.			0			c.G609A												123.0	91.0	102.0					19																	49657886		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			GGCCTCCTCTTCC		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.609G>A	19.37:g.49657886C>T			Somatic	61	0	0		WXS	Illumina HiSeq	.	90	0.10	9	NM_002152	5	0.40	2	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																					0.572	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465649.1		NM_002152	
HRC	3270	hgsc.bcm.edu	37	19	49657916	49657916	+	Silent	SNP	T	T	C	rs7409255		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:49657916T>C	ENST00000252825.4	-	1	765	c.579A>G	c.(577-579)gaA>gaG	p.E193E	HRC_ENST00000595625.1_Silent_p.E193E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	193	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcttcTCCTTCAT	0.557																																					p.E193E	Melanoma(37;75 1097 24567 25669 30645)												.	.			0			c.A579G												119.0	95.0	103.0					19																	49657916		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			CTCCTCTTCTCCT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.579A>G	19.37:g.49657916T>C			Somatic	68	0	0		WXS	Illumina HiSeq	.	94	0.09	8	NM_002152	5	0.00	0	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																					0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465649.1		NM_002152	
ZNF525	170958	broad.mit.edu	37	19	53879043	53879043	+	Silent	SNP	T	T	C	rs62115350		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:53879043T>C	ENST00000475179.1	+	3	150	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF525_ENST00000474037.1_Silent_p.D12D|ZNF525_ENST00000467003.1_5'UTR|ZNF525_ENST00000593918.1_Silent_p.D12D|ZNF525_ENST00000491101.1_Silent_p.D12D			Q8N782	ZN525_HUMAN	zinc finger protein 525	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						CATTCAGGGATGTGGCCATAG	0.448																																					.													.	ZNF525	35		0			.																																									SO:0001819	synonymous_variant	170958	.			CAGGGATGTGGCC	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000475179.1:c.36T>C	19.37:g.53879043T>C			Somatic	53	0.0188679245	1		WXS	Illumina HiSeq	Phase_I	60	0.10	6	.	5	0.00	0	Q8TF23	Silent	SNP	ENST00000475179.1	37																																																																																						0.448	ZNF525-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000350553.1		NR_003699	
ANKRD36BP2	645784	broad.mit.edu	37	2	89100923	89100924	+	RNA	INS	-	-	G	rs369765448		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr2:89100923_89100924insG	ENST00000393525.3	+	0	1397_1398									ankyrin repeat domain 36B pseudogene 2																		AATATAAAAAAGATACATATGA	0.282																																					.													.	.			0			.																																											0	.			TAAAAAAGATACA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100924_89100924dupG			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	9	0.44	4	.	0		0		RNA	INS	ENST00000393525.3	37																																																																																						0.282	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000323523.1			
WASH2P	375260	broad.mit.edu	37	2	114353290	114353290	+	RNA	SNP	T	T	C			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr2:114353290T>C	ENST00000538033.2	+	0	1154							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										AGGACTTTCCTGTGTGCGTGA	0.587																																					.													.	.			0			.																																											0	.			CTTTCCTGTGTGC			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114353290T>C			Somatic	52	0.0192307692	1		WXS	Illumina HiSeq	Phase_I	90	0.12	11	.	66	0.21	14		RNA	SNP	ENST00000538033.2	37																																																																																						0.587	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene		OTTHUMT00000467782.1		NM_198943	
COL3A1	1281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	189868987	189868987	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr2:189868987C>T	ENST00000304636.3	+	40	2998	c.2828C>T	c.(2827-2829)gCt>gTt	p.A943V	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	943	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TATTAGGGAGCTCCAGGCCCA	0.468																																					p.A943V													.	.			0			c.C2828T												49.0	49.0	49.0					2																	189868987		2202	4300	6502	SO:0001583	missense	1281	exon40			AGGGAGCTCCAGG	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2828C>T	2.37:g.189868987C>T	ENSP00000304408:p.Ala943Val		Somatic	289	0	0		WXS	Illumina HiSeq	.	274	0.36	98	NM_000090	12397	0.50	6202	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922303	0.73213	.	.	ENSG00000168542	ENST00000304636	D	0.93247	-3.19	5.12	2.25	0.28309	.	1.183060	0.06254	N	0.692533	D	0.89252	0.6662	L	0.41356	1.27	0.18873	N	0.999988	B	0.09022	0.002	B	0.06405	0.002	T	0.74331	-0.3700	10	0.17832	T	0.49	.	9.9943	0.41889	0.0:0.7328:0.1247:0.1425	.	943	P02461	CO3A1_HUMAN	V	943	ENSP00000304408:A943V	ENSP00000304408:A943V	A	+	2	0	COL3A1	189577232	0.003000	0.15002	0.893000	0.35052	0.908000	0.53690	2.056000	0.41355	0.761000	0.33130	0.655000	0.94253	GCT			0.468	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255899.3		NM_000090	
ANKZF1	55139	bcgsc.ca;mdanderson.org	37	2	220101121	220101121	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr2:220101121G>A	ENST00000323348.5	+	14	2309	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H	ANKZF1_ENST00000409849.1_Missense_Mutation_p.R502H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R712H|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	712						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCCACACGTTGCCTCCAG	0.562																																					p.R712H													.	ANKZF1	45		0			c.G2135A												100.0	101.0	101.0					2																	220101121		2031	4188	6219	SO:0001583	missense	55139	exon14			CCACACGTTGCCT	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.2135G>A	2.37:g.220101121G>A	ENSP00000321617:p.Arg712His		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_1	80	0.06	5	NM_001042410	79	0.00	0	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306726	0.40795	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.95554	-3.74;-3.74;-3.74	5.38	3.6	0.41247	.	0.156344	0.56097	N	0.000032	D	0.93252	0.7850	M	0.75447	2.3	0.43238	D	0.995147	B	0.15141	0.012	B	0.11329	0.006	D	0.89112	0.3497	10	0.46703	T	0.11	-11.2212	6.5363	0.22355	0.2234:0.1423:0.6343:0.0	.	712	Q9H8Y5	ANKZ1_HUMAN	H	712;502;712	ENSP00000321617:R712H;ENSP00000386815:R502H;ENSP00000386337:R712H	ENSP00000321617:R712H	R	+	2	0	ANKZF1	219809365	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.316000	0.43761	0.847000	0.35167	-0.137000	0.14449	CGT			0.562	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335790.1		NM_018089	
FRG1B	284802	bcgsc.ca	37	20	29623215	29623215	+	Silent	SNP	G	G	A	rs77485836	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr20:29623215G>A	ENST00000278882.3	+	3	407	c.27G>A	c.(25-27)tcG>tcA	p.S9S	FRG1B_ENST00000358464.4_Silent_p.S9S|FRG1B_ENST00000439954.2_Missense_Mutation_p.D11N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	9										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACATGCACTCGACAATGGTCT	0.393													.|||	138	0.0275559	0.0106	0.0576	5008	,	,		49196	0.0238		0.0268	False		,,,				2504	0.0337				.													.	FRG1B	181		0			.																																									SO:0001819	synonymous_variant	284802	.			GCACTCGACAATG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.27G>A	20.37:g.29623215G>A			Somatic	416	0.0504807692	21		WXS	Illumina HiSeq	Phase_1	387	0.10	37	.	226	0.22	49	C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	g	10.79	1.450717	0.26074	.	.	ENSG00000149531	ENST00000439954	T	0.63913	-0.07	1.93	1.93	0.25924	.	.	.	.	.	T	0.67135	0.2861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68945	-0.5275	6	0.54805	T	0.06	.	9.8943	0.41309	0.0:0.0:1.0:0.0	.	.	.	.	N	11	ENSP00000408863:D11N	ENSP00000408863:D11N	D	+	1	0	FRG1B	28236876	1.000000	0.71417	0.999000	0.59377	0.081000	0.17604	8.270000	0.89880	1.399000	0.46721	0.423000	0.28283	GAC			0.393	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000078494.2		NR_003579	
BAGE2	85319	broad.mit.edu	37	21	11058613	11058614	+	RNA	INS	-	-	A	rs60445243|rs377480117	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr21:11058613_11058614insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATTTTTTTTTAAAGCAAATAG	0.248																																					.													.	.			0			.																																											85319	.			TTTTTTTAAAGCA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058616_11058616dupA			Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	7	0.43	3	.	0		0	A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.248	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157417.3		NM_182482	
KRTAP10-10	353333	mdanderson.org	37	21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	rs142158982	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																					p.V234M													.	.			0			c.G700A							G	,MET/VAL	54,4352		0,54,2149	54.0	58.0	57.0		,700	-2.9	0.0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333	exon1			CGCCCCGTGTGCT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met		Somatic	67	0.0149253731	1		WXS	Illumina HiSeq	Phase_I	88	0.05	4	NM_181688	0		0		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG			0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688	
TRMU	55687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	46749663	46749663	+	Splice_Site	SNP	G	G	C			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr22:46749663G>C	ENST00000290846.4	+	8	1112		c.e8-1		TRMU_ENST00000381019.3_Splice_Site	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCTTTCTGTAGGTTGGTTCCT	0.552																																					.													.	.			0			c.773-1G>C												158.0	132.0	141.0					22																	46749663		2203	4300	6503	SO:0001630	splice_region_variant	55687	exon8			TCTGTAGGTTGGT	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.773-1G>C	22.37:g.46749663G>C			Somatic	228	0	0		WXS	Illumina HiSeq	.	319	0.29	91	NM_018006	7	0.29	2	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Splice_Site	SNP	ENST00000290846.4	37	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186707	0.57909	.	.	ENSG00000100416	ENST00000290846;ENST00000381019	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8802	0.88838	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRMU	45128327	1.000000	0.71417	0.996000	0.52242	0.669000	0.39330	8.775000	0.91772	2.295000	0.77249	0.651000	0.88453	.			0.552	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318042.2		NM_018006	Intron
SH3BP5	9467	mdanderson.org	37	3	15373825	15373825	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:15373825T>C	ENST00000383791.3	-	1	311	c.91A>G	c.(91-93)Atg>Gtg	p.M31V	SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	31	Glu-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ccctgctccatcccctcttcc	0.706																																					p.M31V													.	.			0			c.A91G												27.0	24.0	25.0					3																	15373825		2164	4234	6398	SO:0001583	missense	9467	exon1			GCTCCATCCCCTC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.91A>G	3.37:g.15373825T>C	ENSP00000373301:p.Met31Val		Somatic	21	0.0476190476	1		WXS	Illumina HiSeq	Phase_I	25	0.12	3	NM_004844	20	0.00	0	B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	37	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	T	8.145	0.786134	0.16189	.	.	ENSG00000131370	ENST00000383791	T	0.77098	-1.07	3.4	3.4	0.38934	.	5.541070	0.01381	U	0.012927	T	0.69278	0.3093	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.58148	-0.7687	10	0.87932	D	0	-9.5107	8.4082	0.32627	0.0:0.0:0.0:1.0	.	31	O60239	3BP5_HUMAN	V	31	ENSP00000373301:M31V	ENSP00000373301:M31V	M	-	1	0	SH3BP5	15348829	0.997000	0.39634	0.783000	0.31826	0.247000	0.25773	1.579000	0.36536	1.546000	0.49388	0.254000	0.18369	ATG			0.706	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340740.2		NM_004844	
CLASP2	23122	mdanderson.org	37	3	33759452	33759452	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:33759452G>T	ENST00000468888.2	-	1	89	c.43C>A	c.(43-45)Cag>Aag	p.Q15K	CLASP2_ENST00000359576.5_Missense_Mutation_p.Q15K|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000399362.4_Missense_Mutation_p.Q15K			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	0					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACGTCCTTCTGCTGCACCTGG	0.721																																					p.Q15K													.	.			0			c.C43A												3.0	4.0	4.0					3																	33759452		1563	3577	5140	SO:0001583	missense	23122	exon1			CCTTCTGCTGCAC	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.43C>A	3.37:g.33759452G>T	ENSP00000419974:p.Gln15Lys		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	14	0.21	3	NM_015097	4	0.00	0	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	G	18.07	3.541531	0.65085	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576	T;T;T	0.64085	-0.08;-0.08;-0.08	4.09	4.09	0.47781	.	0.083592	0.49305	N	0.000152	T	0.68641	0.3023	L	0.49126	1.545	0.80722	D	1	P	0.52577	0.954	D	0.65140	0.932	T	0.64317	-0.6436	10	0.02654	T	1	-10.4858	16.7687	0.85531	0.0:0.0:1.0:0.0	.	15	F5H604	.	K	15	ENSP00000419974:Q15K;ENSP00000382297:Q15K;ENSP00000352581:Q15K	ENSP00000352581:Q15K	Q	-	1	0	CLASP2	33734456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.722000	0.91452	2.190000	0.69967	0.561000	0.74099	CAG			0.721	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000344320.4		NM_001207044	
EPM2AIP1	9852	mdanderson.org	37	3	37034360	37034360	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:37034360G>T	ENST00000322716.5	-	1	435	c.209C>A	c.(208-210)gCg>gAg	p.A70E	MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	70					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CTCGCCGTCCGCCACATACCG	0.677																																					p.A70E													EPM2AIP1,NS,carcinoma,+1,1	EPM2AIP1	1	1	0			c.C209A												27.0	33.0	31.0					3																	37034360		2052	4200	6252	SO:0001583	missense	9852	exon1			CCGTCCGCCACAT	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.209C>A	3.37:g.37034360G>T	ENSP00000406027:p.Ala70Glu		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_014805	14	0.00	0	O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416086	0.25552	.	.	ENSG00000178567	ENST00000322716	T	0.13420	2.59	5.26	-0.534	0.11883	.	.	.	.	.	T	0.06917	0.0176	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43702	-0.9375	9	0.02654	T	1	-9.3235	8.4715	0.32988	0.0:0.1822:0.2731:0.5446	.	70	Q7L775	EPMIP_HUMAN	E	70	ENSP00000406027:A70E	ENSP00000406027:A70E	A	-	2	0	EPM2AIP1	37009364	0.004000	0.15560	0.316000	0.25252	0.933000	0.57130	0.534000	0.23098	-0.330000	0.08514	0.563000	0.77884	GCG			0.677	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000470593.1		NM_014805	
XYLB	9942	mdanderson.org	37	3	38404464	38404464	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:38404464G>T	ENST00000207870.3	+	4	337	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	83					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GAAGGCTTCGGGCTTCGACTT	0.527																																					p.G83C													.	.			0			c.G247T												131.0	131.0	131.0					3																	38404464		2203	4300	6503	SO:0001583	missense	9942	exon4			GCTTCGGGCTTCG	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.247G>T	3.37:g.38404464G>T	ENSP00000207870:p.Gly83Cys		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_005108	6	0.00	0	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506695	0.64410	.	.	ENSG00000093217	ENST00000207870	T	0.21031	2.03	4.93	4.03	0.46877	Carbohydrate kinase, FGGY, N-terminal (1);	0.047370	0.85682	N	0.000000	T	0.51787	0.1695	M	0.90369	3.11	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.61422	-0.7066	10	0.72032	D	0.01	.	12.4369	0.55604	0.0:0.0:0.8306:0.1694	.	83	O75191	XYLB_HUMAN	C	83	ENSP00000207870:G83C	ENSP00000207870:G83C	G	+	1	0	XYLB	38379468	1.000000	0.71417	0.552000	0.28243	0.872000	0.50106	6.122000	0.71608	1.160000	0.42584	0.455000	0.32223	GGC			0.527	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254062.2		NM_005108	
WDR6	11180	broad.mit.edu	37	3	49050774	49050774	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:49050774C>T	ENST00000608424.1	+	2	1846	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S	WDR6_ENST00000448293.1_Missense_Mutation_p.P552S|WDR6_ENST00000415265.2_Missense_Mutation_p.P51S|WDR6_ENST00000395474.3_Missense_Mutation_p.P633S|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	603					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCAGCTCCAGCCAGTCCTAAG	0.562																																					p.P633S													.	WDR6	79		0			c.C1897T												78.0	57.0	64.0					3																	49050774		2203	4300	6503	SO:0001583	missense	11180	exon2			CTCCAGCCAGTCC	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1807C>T	3.37:g.49050774C>T	ENSP00000477389:p.Pro603Ser		Somatic	79	0	0		WXS	Illumina HiSeq	Phase_I	70	0.04	3	NM_018031	170	0.00	0	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	C	17.54	3.414677	0.62511	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;D	0.89810	2.83;-2.57	5.35	4.42	0.53409	Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.215323	0.40640	N	0.001051	D	0.85461	0.5702	L	0.44542	1.39	0.39156	D	0.962326	D;D;P	0.54601	0.967;0.967;0.907	P;B;B	0.47206	0.541;0.444;0.258	T	0.83033	-0.0161	10	0.09084	T	0.74	-12.5535	14.7323	0.69391	0.0:0.7675:0.2325:0.0	.	51;603;552	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	S	633;51;552	ENSP00000378857:P633S;ENSP00000413432:P552S	ENSP00000378857:P633S	P	+	1	0	WDR6	49025778	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	4.151000	0.58105	2.503000	0.84419	0.561000	0.74099	CCA			0.562	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000471652.1			
FNDC3B	64778	hgsc.bcm.edu;broad.mit.edu	37	3	172065071	172065071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:172065071G>T	ENST00000336824.4	+	21	2533	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	FNDC3B_ENST00000416957.1_Nonsense_Mutation_p.E812*|FNDC3B_ENST00000415807.2_Nonsense_Mutation_p.E812*	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	812	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGAATCCTTAGAACTCATTTA	0.423																																					p.E812X													.	.			0			c.G2434T												127.0	125.0	126.0					3																	172065071		2203	4300	6503	SO:0001587	stop_gained	64778	exon21			TCCTTAGAACTCA	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2434G>T	3.37:g.172065071G>T	ENSP00000338523:p.Glu812*		Somatic	87	0	0		WXS	Illumina HiSeq	.	90	0.06	5	NM_001135095	32	0.00	0	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Nonsense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	40	8.036304	0.98621	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	.	.	.	6.03	6.03	0.97812	.	0.200554	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-28.8388	15.8039	0.78477	0.0:0.2367:0.7633:0.0	.	.	.	.	X	812	.	ENSP00000338523:E812X	E	+	1	0	FNDC3B	173547765	1.000000	0.71417	0.999000	0.59377	0.615000	0.37417	6.044000	0.71012	2.861000	0.98227	0.655000	0.94253	GAA			0.423	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345618.2		NM_022763	
MUC4	4585	bcgsc.ca	37	3	195509585	195509585	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:195509585C>T	ENST00000463781.3	-	2	9325	c.8866G>A	c.(8866-8868)Ggt>Agt	p.G2956S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2956S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.587																																					p.G2956S													.	MUC4	1505		0			c.G8866A												9.0	8.0	8.0					3																	195509585		623	1473	2096	SO:0001583	missense	4585	exon2			CGTGACCTGTGGA	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8866G>A	3.37:g.195509585C>T	ENSP00000417498:p.Gly2956Ser		Somatic	56	0.0535714286	3		WXS	Illumina HiSeq	Phase_1	47	0.32	15	NM_018406	0		0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	6.832	0.522622	0.13066	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32988	1.48;1.43	.	.	.	.	.	.	.	.	T	0.20780	0.0500	N	0.19112	0.55	0.09310	N	1	P	0.50443	0.935	P	0.47402	0.546	T	0.08911	-1.0699	7	.	.	.	.	4.2698	0.10780	0.3913:0.6087:0.0:0.0	.	2828	E7ESK3	.	S	2956	ENSP00000417498:G2956S;ENSP00000420243:G2956S	.	G	-	1	0	MUC4	196994364	0.852000	0.29690	0.004000	0.12327	0.000000	0.00434	2.070000	0.41491	0.482000	0.27582	0.000000	0.15137	GGT			0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324081.6		NM_018406	
MUC4	4585	bcgsc.ca	37	3	195510046	195510046	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:195510046G>A	ENST00000463781.3	-	2	8864	c.8405C>T	c.(8404-8406)cCt>cTt	p.P2802L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2802L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.577																																					p.P2802L													.	MUC4	1505		0			c.C8405T												65.0	39.0	47.0					3																	195510046		685	1503	2188	SO:0001583	missense	4585	exon2			GTGACAGGAAGAG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8405C>T	3.37:g.195510046G>A	ENSP00000417498:p.Pro2802Leu		Somatic	82	0.012195122	1		WXS	Illumina HiSeq	Phase_1	23	0.30	7	NM_018406	0		0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	7.033	0.561059	0.13498	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36520	1.25;1.34	0.918	0.918	0.19386	.	.	.	.	.	T	0.17492	0.0420	N	0.19112	0.55	0.09310	N	1	P	0.47604	0.898	B	0.34824	0.19	T	0.10314	-1.0635	8	.	.	.	.	7.3741	0.26818	0.0:0.0:1.0:0.0	.	2674	E7ESK3	.	L	2802	ENSP00000417498:P2802L;ENSP00000420243:P2802L	.	P	-	2	0	MUC4	196994825	0.034000	0.19679	0.011000	0.14972	0.065000	0.16274	1.146000	0.31589	0.432000	0.26286	0.074000	0.15403	CCT			0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324081.6		NM_018406	
GABRB1	2560	mdanderson.org	37	4	47163290	47163290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr4:47163290C>T	ENST00000295454.3	+	4	557	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.Q19*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	89					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATGTATTTCCAGCAGTCTTG	0.363																																					p.Q89X													.	.			0			c.C265T												76.0	79.0	78.0					4																	47163290		2203	4298	6501	SO:0001587	stop_gained	2560	exon4			TATTTCCAGCAGT		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.265C>T	4.37:g.47163290C>T	ENSP00000295454:p.Gln89*		Somatic	44	0.0227272727	1		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_000812	0		0	B2R6U7|D6REL3|Q16166|Q8TBK3	Nonsense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963682	0.92791	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.5354	17.4825	0.87677	0.0:1.0:0.0:0.0	.	.	.	.	X	56;89;19	.	ENSP00000295454:Q89X	Q	+	1	0	GABRB1	46858047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.611000	0.88343	0.650000	0.86243	CAG			0.363	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216896.1			
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																					.													.	.			0			.																																											0	.			TATGGCGAGGAGG																													4.37:g.68311862_68311864delGAG			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	3	0.00	0		RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000361926.2			
SLCO4C1	353189	broad.mit.edu	37	5	101599428	101599428	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr5:101599428G>T	ENST00000310954.6	-	4	1145	c.859C>A	c.(859-861)Caa>Aaa	p.Q287K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTAGCAGTTGTCCTCCCAAT	0.363																																					p.Q287K													.	SLCO4C1	113		0			c.C859A												164.0	160.0	161.0					5																	101599428		2203	4300	6503	SO:0001583	missense	353189	exon4			GCAGTTGTCCTCC	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.859C>A	5.37:g.101599428G>T	ENSP00000309741:p.Gln287Lys		Somatic	370	0	0		WXS	Illumina HiSeq	Phase_I	265	0.02	6	NM_180991	4	0.00	0		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140424	0.77775	.	.	ENSG00000173930	ENST00000310954	T	0.38401	1.14	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.087753	0.48286	D	0.000192	T	0.43500	0.1250	M	0.69185	2.1	0.38787	D	0.954893	B	0.22541	0.071	B	0.30401	0.115	T	0.38373	-0.9664	10	0.28530	T	0.3	.	19.1822	0.93628	0.0:0.0:1.0:0.0	.	287	Q6ZQN7	SO4C1_HUMAN	K	287	ENSP00000309741:Q287K	ENSP00000309741:Q287K	Q	-	1	0	SLCO4C1	101627327	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	6.781000	0.75068	2.598000	0.87819	0.650000	0.86243	CAA			0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370332.1		NM_180991	
SLC12A2	6558	mdanderson.org	37	5	127485691	127485691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr5:127485691G>T	ENST00000262461.2	+	13	2197	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.E670*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	670					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TTCTGCAGCTGAACTGAATGT	0.333																																					p.E670X													.	.			0			c.G2008T												191.0	171.0	178.0					5																	127485691		2203	4300	6503	SO:0001587	stop_gained	6558	exon13			GCAGCTGAACTGA		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2008G>T	5.37:g.127485691G>T	ENSP00000262461:p.Glu670*		Somatic	44	0.0227272727	1		WXS	Illumina HiSeq	Phase_I	52	0.08	4	NM_001046	23	0.00	0	Q8N713|Q8WWH7	Nonsense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	37	6.415232	0.97550	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.212	0.86932	0.0:0.0:1.0:0.0	.	.	.	.	X	670	.	ENSP00000262461:E670X	E	+	1	0	SLC12A2	127513590	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.470000	0.73558	2.453000	0.82957	0.591000	0.81541	GAA			0.333	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250972.1		NM_001046	
FARS2	10667	broad.mit.edu	37	6	5404837	5404837	+	Silent	SNP	G	G	T	rs370034437		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr6:5404837G>T	ENST00000324331.6	+	3	1011	c.675G>T	c.(673-675)gcG>gcT	p.A225A	FARS2_ENST00000274680.4_Silent_p.A225A			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	225					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTCGCTCTGCGCATAAACAAG	0.413																																					p.A225A													FARS2,colon,carcinoma,+1,2	FARS2	33	2	0			c.G675T												103.0	105.0	104.0					6																	5404837		2203	4300	6503	SO:0001819	synonymous_variant	10667	exon3			CTCTGCGCATAAA	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.675G>T	6.37:g.5404837G>T			Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	222	0.02	4	NM_006567	52	0.00	0	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	ENST00000324331.6	37	CCDS4494.1																																																																																					0.413	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467790.1		NM_006567	
TAAR2	9287	hgsc.bcm.edu;bcgsc.ca	37	6	132945356	132945356	+	Splice_Site	DEL	T	T	-			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr6:132945356delT	ENST00000367931.1	-	1	58	c.59delA	c.(58-60)aag>ag	p.K20fs	TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	20					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGGGCCTACCTTTTTTGTCTG	0.358																																					p.K20fs													.	TAAR2	45		0			c.60delG												170.0	144.0	153.0					6																	132945356		2203	4300	6503	SO:0001630	splice_region_variant	9287	exon1			CCTACCTTTTTTG	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.60+1A>-	6.37:g.132945356delT			Somatic	119	0	0		WXS	Illumina HiSeq	.	110	0.31	34	NM_001033080	0		0	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Frame_Shift_Del	DEL	ENST00000367931.1	37	CCDS34541.1																																																																																					0.358	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000390735.1		NM_014626	Frame_Shift_Del
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	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	115	0	0		WXS	Illumina HiSeq	Phase_I	151	0.03	5	.	18	0.00	0		RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345507.1		NR_003110	
CLIP2	7461	broad.mit.edu	37	7	73790841	73790842	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:73790841_73790842insG	ENST00000395060.1	+	9	2110_2111	c.2110_2111insG	c.(2110-2112)cggfs	p.R704fs	CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.R704fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.R669fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	704						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGCACTGGCGGGCCCAGCTG	0.683																																					p.R704fs													.	CLIP2	134		0			c.2110_2111insG																																									SO:0001589	frameshift_variant	7461	exon10			CACTGGCGGGCCC	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2113dupG	7.37:g.73790844_73790844dupG	ENSP00000378500:p.Arg704fs		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	96	0.06	6	NM_003388	41	0.00	0	O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	CCDS5569.1																																																																																					0.683	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252556.1		NM_003388	
PRRT4	401399	ucsc.edu	37	7	127991185	127991185	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:127991185G>T	ENST00000446477.2	-	6	2738	c.2425C>A	c.(2425-2427)Ctc>Atc	p.L809I	PRRT4_ENST00000535159.1_Missense_Mutation_p.L809I|PRRT4_ENST00000435512.1_Missense_Mutation_p.L603I|PRRT4_ENST00000489835.2_3'UTR	NM_001174164.1	NP_001167635.1	C9JH25	PRRT4_HUMAN	proline-rich transmembrane protein 4	809	Ser-rich.					integral component of membrane (GO:0016021)				endometrium(4)|prostate(1)	5						TCCCGCGAGAGTCCGCAGAAC	0.721																																					p.L809I													.	PRRT4	31		0			c.C2425A												2.0	4.0	3.0					7																	127991185		591	1467	2058	SO:0001583	missense	401399	exon6			GCGAGAGTCCGCA	BC063892	CCDS47698.1, CCDS47698.2, CCDS55160.1	7q32.1	2011-10-10			ENSG00000224940	ENSG00000224940		"""Proline-rich transmembrane proteins"""	37280	protein-coding gene	gene with protein product							Standard	NM_001114726		Approved		uc022aky.1	C9JH25	OTTHUMG00000157714	ENST00000446477.2:c.2425C>A	7.37:g.127991185G>T	ENSP00000415026:p.Leu809Ile		Somatic	32	0	0		WXS	Illumina HiSeq		39	0.10	4	NM_001174164	17	0.00	0	A4D0Z9|C9JVW7	Missense_Mutation	SNP	ENST00000446477.2	37	CCDS55160.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259609	0.39995	.	.	ENSG00000224940	ENST00000446477;ENST00000480290;ENST00000535159;ENST00000435512	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	T	0.26882	0.0658	N	0.22421	0.69	0.24173	N	0.99562	P	0.51933	0.949	B	0.42851	0.4	T	0.08785	-1.0705	8	0.59425	D	0.04	-14.5421	10.3951	0.44196	0.0:0.1992:0.8008:0.0	.	809	C9JH25	PRRT4_HUMAN	I	809;338;809;603	.	ENSP00000410779:L603I	L	-	1	0	PRRT4	127778421	0.998000	0.40836	0.995000	0.50966	0.376000	0.30014	1.096000	0.30976	2.363000	0.80096	0.462000	0.41574	CTC			0.721	PRRT4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001114726	
MGAM	8972	broad.mit.edu;mdanderson.org	37	7	141765179	141765179	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:141765179G>A	ENST00000549489.2	+	38	4624	c.4529G>A	c.(4528-4530)cGc>cAc	p.R1510H	MGAM_ENST00000475668.2_Missense_Mutation_p.R1510H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1510	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCATCACCCGCTCCACATTT	0.597																																					p.R1510H													.	MGAM	767		0			c.G4529A												50.0	55.0	53.0					7																	141765179		2037	4183	6220	SO:0001583	missense	8972	exon38			TCACCCGCTCCAC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4529G>A	7.37:g.141765179G>A	ENSP00000447378:p.Arg1510His		Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	135	0.04	5	NM_004668	2	0.00	0	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847132	0.91277	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.97016	-4.21	3.97	3.97	0.46021	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99096	0.9689	H	0.99789	4.78	0.44221	D	0.997054	D	0.89917	1.0	D	0.97110	1.0	D	0.98472	1.0601	9	0.87932	D	0	.	14.8747	0.70485	0.0:0.0:1.0:0.0	.	1510	O43451	MGA_HUMAN	H	1510;1510;1387	ENSP00000447378:R1510H	ENSP00000316431:R1387H	R	+	2	0	MGAM	141411648	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	9.718000	0.98758	1.759000	0.51996	0.306000	0.20318	CGC			0.597	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000351244.3			
NOBOX	135935	mdanderson.org	37	7	144098624	144098624	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:144098624G>T	ENST00000467773.1	-	4	358	c.359C>A	c.(358-360)gCc>gAc	p.A120D	NOBOX_ENST00000483238.1_Missense_Mutation_p.A120D|NOBOX_ENST00000223140.5_Missense_Mutation_p.A35D	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	120					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A120D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCATGAGGGGCTGAGCCCCG	0.632																																					p.A120D													NOBOX,NS,carcinoma,0,2	NOBOX	0	2	1	Substitution - Missense(1)	prostate(1)	c.C359A												31.0	34.0	33.0					7																	144098624		1827	3870	5697	SO:0001583	missense	135935	exon4			TGAGGGGCTGAGC			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.359C>A	7.37:g.144098624G>T	ENSP00000419457:p.Ala120Asp		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_001080413	0		0	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	G	17.03	3.285454	0.59867	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.94232	-3.18;-3.38;-3.02	4.72	-2.5	0.06384	.	.	.	.	.	D	0.86981	0.6064	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	P	0.50352	0.638	T	0.78178	-0.2305	9	0.66056	D	0.02	-1.1127	0.8438	0.01156	0.2949:0.3014:0.2506:0.1531	.	120	O60393	NOBOX_HUMAN	D	120;120;35	ENSP00000419565:A120D;ENSP00000419457:A120D;ENSP00000223140:A35D	ENSP00000223140:A35D	A	-	2	0	NOBOX	143729557	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	0.038000	0.13862	-0.338000	0.08413	0.561000	0.74099	GCC			0.632	NOBOX-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000350095.1		XM_001134420	
DPP6	1804	mdanderson.org	37	7	154598822	154598822	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:154598822G>T	ENST00000377770.3	+	16	1807	c.1666G>T	c.(1666-1668)Ggt>Tgt	p.G556C	DPP6_ENST00000332007.3_Splice_Site_p.G494C|DPP6_ENST00000404039.1_Splice_Site_p.G492C|DPP6_ENST00000427557.1_Splice_Site_p.G449C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	556					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAAGTGCGAAGGTCAGCTCCT	0.612																																					p.G556C	NSCLC(125;1384 1783 2490 7422 34254)												.	.			0			c.G1666T												88.0	86.0	87.0					7																	154598822		2007	4176	6183	SO:0001630	splice_region_variant	1804	exon16			TGCGAAGGTCAGC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1666+1G>T	7.37:g.154598822G>T			Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_130797	8	0.00	0		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.969282	0.74246	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.8	4.8	0.61643	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.993	T	0.83086	-0.0135	10	0.87932	D	0	-14.1826	16.667	0.85255	0.0:0.0:1.0:0.0	.	449;494;556;492	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	492;556;494;449	ENSP00000385578:G492C;ENSP00000367001:G556C;ENSP00000328226:G494C;ENSP00000397303:G449C	ENSP00000328226:G494C	G	+	1	0	DPP6	154229755	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.294000	0.89934	2.177000	0.69029	0.655000	0.94253	GGT			0.612	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000322932.1		NM_130797	Missense_Mutation
PAXIP1	22976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	154738434	154738434	+	Silent	SNP	G	G	A			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:154738434G>A	ENST00000404141.1	-	18	3166	c.3012C>T	c.(3010-3012)tcC>tcT	p.S1004S	PAXIP1_ENST00000397192.1_Silent_p.S1004S|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1004	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATGGCTGCTTGGATAACACCT	0.478																																					p.S1004S													.	.			0			c.C3012T												77.0	75.0	75.0					7																	154738434		1989	4174	6163	SO:0001819	synonymous_variant	22976	exon18			CTGCTTGGATAAC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.3012C>T	7.37:g.154738434G>A			Somatic	168	0	0		WXS	Illumina HiSeq	.	153	0.23	35	NM_007349	109	0.30	33	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	CCDS47753.1																																																																																					0.478	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322223.1		NM_007349	
SCARA5	286133	mdanderson.org	37	8	27779326	27779326	+	Silent	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr8:27779326C>T	ENST00000354914.3	-	4	1163	c.678G>A	c.(676-678)gtG>gtA	p.V226V	SCARA5_ENST00000301906.4_Silent_p.V183V|SCARA5_ENST00000518030.1_Silent_p.V183V|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000524352.1_Silent_p.V226V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	226					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGCCGCGCAGCACGCCGCCCA	0.731																																					p.V226V													SCARA5,NS,carcinoma,-2,1	SCARA5	-2	1	0			c.G678A												10.0	12.0	11.0					8																	27779326		2148	4160	6308	SO:0001819	synonymous_variant	286133	exon4			GCGCAGCACGCCG	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.678G>A	8.37:g.27779326C>T			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_173833	38	0.00	0	Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																					0.731	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255223.2		NM_173833	
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001				p.E1035E													KANK1_ENST00000382303,NS,carcinoma,0,4	KANK1	231	4	0			c.G3105A												153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189	exon10			AGAAGAGGAGGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A			Somatic	115	0.0086956522	1		WXS	Illumina HiSeq	Phase_I	136	0.04	5	NM_001256876	53	0.00	0	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																					0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051484.2		NM_015158	
SPTAN1	6709	broad.mit.edu	37	9	131343226	131343226	+	Missense_Mutation	SNP	C	C	T	rs374524469		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr9:131343226C>T	ENST00000372731.4	+	11	1459	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	SPTAN1_ENST00000358161.5_Missense_Mutation_p.A450V|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A450V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	450					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGGAGAGAGCGGCGCTGCTG	0.612																																					p.A450V	NSCLC(120;833 1744 2558 35612 37579)												.	SPTAN1	266		0			c.C1349T							C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	72.0	65.0	67.0		1349,1349,1349	4.6	0.0	9		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	450/2478,450/2453,450/2473	131343226	1,13005	2203	4300	6503	SO:0001583	missense	6709	exon11			AGAGAGCGGCGCT	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1349C>T	9.37:g.131343226C>T	ENSP00000361816:p.Ala450Val		Somatic	100	0	0		WXS	Illumina HiSeq	Phase_I	102	0.04	4	NM_003127	128	0.00	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800386	0.50315	0.0	1.16E-4	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.53206	0.63;0.63;0.63	5.47	4.56	0.56223	.	0.484707	0.24375	N	0.039079	T	0.42810	0.1219	L	0.45470	1.425	0.09310	N	1	B;B;B;B;B	0.20261	0.006;0.002;0.004;0.002;0.043	B;B;B;B;B	0.09377	0.001;0.001;0.001;0.0;0.004	T	0.32613	-0.9900	10	0.42905	T	0.14	.	15.4445	0.75220	0.0:0.8608:0.1392:0.0	.	450;450;450;450;450	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	V	450	ENSP00000350882:A450V;ENSP00000361816:A450V;ENSP00000361824:A450V	ENSP00000350882:A450V	A	+	2	0	SPTAN1	130383047	0.870000	0.30015	0.020000	0.16555	0.946000	0.59487	4.473000	0.60196	1.297000	0.44761	0.455000	0.32223	GCG			0.612	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054472.1		NM_003127	
WASH6P	653440	broad.mit.edu	37	X	155255248	155255248	+	RNA	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chrX:155255248C>T	ENST00000461007.1	+	0	4164				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CATGGGGGGACGGCTCCACCC	0.562																																					.													.	.			0			.																																											0	.			GGGGGACGGCTCC	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255248C>T			Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	14	0.36	5	.	17	0.00	0	A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.562	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000058840.1		NG_008380	
MAPK8IP2	23542	mdanderson.org	37	22	51044145	51044145	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr22:51044145C>T	ENST00000399908.2	+	5	1915	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.P665L|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.P400L|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.P388L|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.P371L|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.P286L	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	666	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCCCGGCCCTGCCAAGGAC	0.682																																					.													.	.			0			.												30.0	37.0	35.0					22																	51044145		2085	4205	6290	SO:0001583	missense	23542	.			CCGGCCCTGCCAA	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1199C>T	22.37:g.51044145C>T	ENSP00000382792:p.Pro400Leu		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	.	10	0.00	0	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37		.	.	.	.	.	.	.	.	.	.	C	17.88	3.496465	0.64186	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.27402	2.45;2.45;2.45;2.45;2.45;1.67	5.15	5.15	0.70609	Src homology-3 domain (1);	0.176924	0.50627	D	0.000111	T	0.34832	0.0911	.	.	.	0.58432	D	0.999999	P;P	0.52842	0.956;0.956	P;B	0.47603	0.551;0.366	T	0.02307	-1.1179	9	0.31617	T	0.26	-13.0311	16.1581	0.81680	0.0:1.0:0.0:0.0	.	638;666	E7EQG6;Q13387	.;JIP2_HUMAN	L	400;665;388;286;400;371	ENSP00000382796:P400L;ENSP00000330572:P665L;ENSP00000404914:P388L;ENSP00000340015:P286L;ENSP00000382792:P400L;ENSP00000008876:P371L	ENSP00000008876:P371L	P	+	2	0	MAPK8IP2	49391011	0.993000	0.37304	1.000000	0.80357	0.414000	0.31173	3.291000	0.51764	2.686000	0.91538	0.650000	0.86243	CCT			0.682	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000316731.2		NM_012324	
