#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_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	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
AJAP1	55966	mdanderson.org	37	1	4772463	4772463	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:4772463C>T	ENST00000378191.4	+	2	914	c.533C>T	c.(532-534)aCt>aTt	p.T178I	AJAP1_ENST00000378190.3_Missense_Mutation_p.T178I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	178	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACCACAGAGACTGAGTTCATC	0.667																																					p.T178I													.	.			0			c.C533T												14.0	15.0	15.0					1																	4772463		2199	4292	6491	SO:0001583	missense	55966	exon2			CAGAGACTGAGTT	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.533C>T	1.37:g.4772463C>T	ENSP00000367433:p.Thr178Ile		53	0	0		44	0.07	3	NM_018836	4	0.00	0	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649360	0.67358	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.49720	0.77;0.77	5.25	5.25	0.73442	.	0.473238	0.21778	N	0.069260	T	0.46034	0.1372	L	0.27053	0.805	0.39152	D	0.962233	P	0.52061	0.95	P	0.50708	0.648	T	0.49725	-0.8909	10	0.52906	T	0.07	-4.8417	14.3171	0.66460	0.0:1.0:0.0:0.0	.	178	Q9UKB5	AJAP1_HUMAN	I	178	ENSP00000367432:T178I;ENSP00000367433:T178I	ENSP00000367432:T178I	T	+	2	0	AJAP1	4672323	0.998000	0.40836	0.973000	0.42090	0.950000	0.60333	4.175000	0.58263	2.432000	0.82394	0.467000	0.42956	ACT			0.667	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001542.3		NM_018836	
GRHL3	57822	broad.mit.edu	37	1	24666205	24666205	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:24666205G>T	ENST00000350501.5	+	8	1127	c.1000G>T	c.(1000-1002)Gcc>Tcc	p.A334S	GRHL3_ENST00000361548.4_Missense_Mutation_p.A334S|GRHL3_ENST00000236255.4_Missense_Mutation_p.A339S|GRHL3_ENST00000356046.2_Missense_Mutation_p.A288S|GRHL3_ENST00000342072.4_Missense_Mutation_p.A241S	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	334					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGAGGAGGTGGCCTATAATGC	0.532																																					p.A339S													GRHL3,NS,carcinoma,-2,1	GRHL3	69	1	0			c.G1015T												269.0	246.0	254.0					1																	24666205		2203	4300	6503	SO:0001583	missense	57822	exon8			GAGGTGGCCTATA	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1000G>T	1.37:g.24666205G>T	ENSP00000288955:p.Ala334Ser		125	0	0		117	0.03	4	NM_021180	0		0	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800784	0.70567	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.38531	1.155	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.01884	-1.1254	10	0.12766	T	0.61	-43.0759	18.8848	0.92372	0.0:0.0:1.0:0.0	.	288;339;334	A2A297;Q8TE85-2;G3XAF0	.;.;.	S	334;241;334;288;339	ENSP00000354943:A334S;ENSP00000340543:A241S;ENSP00000288955:A334S;ENSP00000348333:A288S;ENSP00000236255:A339S	ENSP00000236255:A339S	A	+	1	0	GRHL3	24538792	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.322000	0.59215	2.700000	0.92200	0.655000	0.94253	GCC			0.532	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000009047.2		NM_021180	
TMEM57	55219	broad.mit.edu	37	1	25812258	25812258	+	Missense_Mutation	SNP	C	C	T	rs142677711		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:25812258C>T	ENST00000374343.4	+	8	1647	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	TMEM57_ENST00000399766.3_Missense_Mutation_p.R263W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R132W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	490					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGCTGCCCGGGCTGTTGC	0.448																																					p.R490W													TMEM57,colon,carcinoma,-1,1	TMEM57	72	1	0			c.C1468T							C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	99.0	95.0		1468	5.2	1.0	1	dbSNP_134	95	0,8600		0,0,4300	no	missense	TMEM57	NM_018202.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	490/665	25812258	1,13005	2203	4300	6503	SO:0001583	missense	55219	exon8			GCTGCCCGGGCTG	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1468C>T	1.37:g.25812258C>T	ENSP00000363463:p.Arg490Trp		92	0	0		85	0.04	3	NM_018202	63	0.00	0	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222008	0.79464	2.27E-4	0.0	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;T	0.80994	-1.44;2.47	6.17	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.88969	0.6582	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.966;0.985;1.0	D	0.89366	0.3671	10	0.87932	D	0	-10.8389	13.4387	0.61099	0.2682:0.7318:0.0:0.0	.	132;263;490	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	263;132;490	ENSP00000382668:R263W;ENSP00000363463:R490W	ENSP00000363463:R490W	R	+	1	2	TMEM57	25684845	0.998000	0.40836	0.998000	0.56505	0.952000	0.60782	2.745000	0.47459	2.941000	0.99782	0.655000	0.94253	CGG			0.448	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009659.2		NM_018202	
UBXN11	91544	bcgsc.ca	37	1	26608904	26608904	+	Silent	SNP	A	A	G	rs201519763	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:26608904A>G	ENST00000374222.1	-	16	1913	c.1449T>C	c.(1447-1449)ccT>ccC	p.P483P	UBXN11_ENST00000374221.3_Silent_p.P483P|UBXN11_ENST00000374223.1_Silent_p.P240P|UBXN11_ENST00000374217.2_Silent_p.P450P|UBXN11_ENST00000357089.4_Silent_p.P450P|UBXN11_ENST00000314675.7_Silent_p.P363P			Q5T124	UBX11_HUMAN	UBX domain protein 11	483	Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gacagggaccaggactgAATT	0.706													A|||	8	0.00159744	0.0	0.0029	5008	,	,		13394	0.006		0.0	False		,,,				2504	0.0				p.P483P													.	UBXN11	54		0			c.T1449C												57.0	69.0	65.0					1																	26608904		1875	4077	5952	SO:0001819	synonymous_variant	91544	exon16			GGGACCAGGACTG	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1449T>C	1.37:g.26608904A>G			41	0	0		43	0.12	5	NM_183008	26	0.00	0	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	CCDS41288.1																																																																																					0.706	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000009500.1		NM_145345	
BAI2	576	broad.mit.edu	37	1	32203076	32203076	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:32203076G>T	ENST00000373658.3	-	20	3274	c.2933C>A	c.(2932-2934)gCa>gAa	p.A978E	BAI2_ENST00000527361.1_Missense_Mutation_p.A978E|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000440175.2_Missense_Mutation_p.A620E|BAI2_ENST00000398547.1_Missense_Mutation_p.A911E|BAI2_ENST00000373655.2_Missense_Mutation_p.A978E|BAI2_ENST00000398538.1_Missense_Mutation_p.A966E|BAI2_ENST00000257070.4_Missense_Mutation_p.A978E|BAI2_ENST00000398542.1_Missense_Mutation_p.A911E|BAI2_ENST00000398556.3_Missense_Mutation_p.A926E	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	978					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GATGTTGGATGCCAAGATGGA	0.617																																					p.A978E													.	BAI2	128		0			c.C2933A												134.0	119.0	124.0					1																	32203076		2203	4300	6503	SO:0001583	missense	576	exon20			TTGGATGCCAAGA	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2933C>A	1.37:g.32203076G>T	ENSP00000362762:p.Ala978Glu		264	0	0		199	0.03	6	NM_001703	3	0.00	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869066	0.72065	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.04	5.04	0.67666	GPCR, family 2-like (1);	0.000000	0.42821	D	0.000656	T	0.71459	0.3342	M	0.70595	2.14	0.46044	D	0.998831	D;D;D;D;D	0.67145	0.991;0.984;0.971;0.996;0.987	P;P;P;D;D	0.66979	0.84;0.879;0.901;0.948;0.926	T	0.72257	-0.4346	10	0.51188	T	0.08	.	18.8871	0.92383	0.0:0.0:1.0:0.0	.	978;966;620;978;978	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	E	926;911;978;978;911;978;978;620;966	ENSP00000381564:A926E;ENSP00000381555:A911E;ENSP00000362762:A978E;ENSP00000362759:A978E;ENSP00000381550:A911E;ENSP00000257070:A978E;ENSP00000435397:A978E;ENSP00000391071:A620E;ENSP00000381548:A966E	ENSP00000257070:A978E	A	-	2	0	BAI2	31975663	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.578000	0.74032	2.724000	0.93272	0.561000	0.74099	GCA			0.617	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000381838.1		NM_001703	
MIR137HG	400765	hgsc.bcm.edu	37	1	98511786	98511786	+	lincRNA	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:98511786C>T	ENST00000580305.1	-	0	0				MIR137HG_ENST00000385223.1_lincRNA	NR_039604.1				MIR137 host gene (non-protein coding)																		ctactgccgccgccgccgcCA	0.632																																					.													.	.			0			.												3.0	7.0	6.0					1																	98511786		293	1060	1353			400765	.			TGCCGCCGCCGCC	AK094607		1p21.3	2013-05-22			ENSG00000225206	ENSG00000225206		"""Long non-coding RNAs"""	42871	non-coding RNA	RNA, long non-coding							Standard	NR_046105		Approved		uc001drx.2		OTTHUMG00000010680		1.37:g.98511786C>T			80	0	0		71	0.07	5	.	0		0		RNA	SNP	ENST00000580305.1	37																																																																																						0.632	MIR137HG-203	KNOWN	basic	miRNA	lincRNA				NR_046105	
IGSF3	3321	ucsc.edu	37	1	117142613	117142613	+	Missense_Mutation	SNP	C	C	T	rs76151115	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:117142613C>T	ENST00000369486.3	-	7	2744	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	IGSF3_ENST00000318837.6_Missense_Mutation_p.R680Q|IGSF3_ENST00000369483.1_Missense_Mutation_p.R680Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	660	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCGCCAGTCGCGTCCAGGT	0.612																																					p.R680Q													.	IGSF3	294		0			c.G2039A												69.0	54.0	59.0					1																	117142613		2203	4300	6503	SO:0001583	missense	3321	exon8			GCCAGTCGCGTCC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1979G>A	1.37:g.117142613C>T	ENSP00000358498:p.Arg660Gln		62	0.0967741935	6		60	0.17	10	NM_001542	59	0.00	0	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979753	0.34942	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.04;4.04	4.56	2.7	0.31948	Immunoglobulin subtype (1);	0.270543	0.31010	N	0.008430	T	0.01353	0.0044	L	0.29908	0.895	0.36040	D	0.840027	D;D;D	0.59767	0.982;0.986;0.986	B;P;P	0.45310	0.345;0.476;0.476	T	0.64071	-0.6493	10	0.22706	T	0.39	-28.9658	8.7768	0.34767	0.0:0.8142:0.0:0.1858	.	680;660;680	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	660;680;680	ENSP00000358498:R660Q;ENSP00000358495:R680Q;ENSP00000321184:R680Q	ENSP00000321184:R680Q	R	-	2	0	IGSF3	116944136	0.789000	0.28775	0.602000	0.28890	0.526000	0.34562	2.194000	0.42668	0.550000	0.28991	-0.384000	0.06662	CGA			0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000059040.1		NM_001542	
RP6-206I17.1	0	broad.mit.edu	37	1	143743290	143743291	+	lincRNA	INS	-	-	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:143743290_143743291insA	ENST00000445753.1	-	0	210																											CTGAGTATCTGAATCTGAAACA	0.475																																					.													.	.			0			.																																											0	.			GTATCTGAATCTG																													1.37:g.143743292_143743292dupA			18	0	0		11	0.36	4	.	5	0.00	0		RNA	INS	ENST00000445753.1	37																																																																																						0.475	RP6-206I17.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000037956.1			
SEC22B	9554	broad.mit.edu	37	1	145116193	145116193	+	RNA	DEL	G	G	-	rs66989703|rs372891418	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:145116193delG	ENST00000453618.1	+	0	1279							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGCACTGGCTGGGGCATTCTC	0.428													GGGG|GGGG|GGG|deletion	1833	0.366014	0.3116	0.4294	5008	,	,		69780	0.3502		0.3847	False		,,,				2504	0.3916				.													.	.			0			.																																											9554	.			CTGGCTGGGGCAT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116193delG			4	0	0		7	0.29	2	.	102	0.00	0	A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.428	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000038523.5		NM_004892	
RUSC1	23623	mdanderson.org	37	1	155290690	155290690	+	5'Flank	SNP	A	A	G			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:155290690A>G	ENST00000368352.5	+	0	0				RUSC1_ENST00000368354.3_5'UTR|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AGGTTGTGCTAGTGCCCCTCC	0.701																																					p.L197P													.	.			0			c.T590C												23.0	27.0	26.0					1																	155290690		1984	4141	6125	SO:0001631	upstream_gene_variant	284618	exon2			TGTGCTAGTGCCC	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910		1.37:g.155290690A>G	Exception_encountered		43	0	0		36	0.11	4	NM_001039517	0		0	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																					0.701	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039071.1			
LOC101928372	101928372	broad.mit.edu	37	1	160905270	160905270	+	lincRNA	DEL	A	A	-	rs80321913		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:160905270delA	ENST00000427339.1	-	0	0				RP11-544M22.1_ENST00000356006.3_RNA																							aaaacaaaacaaaaaaaaaaa	0.502																																					.													.	.			0			.																																											0	.			CAAAACAAAAAAA																													1.37:g.160905270delA			6	0	0		6	0.33	2	.	0		0		RNA	DEL	ENST00000427339.1	37																																																																																						0.502	RP11-312J18.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA		OTTHUMT00000071456.1			
AXDND1	126859	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	179504046	179504046	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:179504046G>C	ENST00000367618.3	+	25	3367	c.2980G>C	c.(2980-2982)Gaa>Caa	p.E994Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	994	Glu-rich.							p.E994Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaacaacaagaagaagaaga	0.328																																					p.E994Q													AXDND1,caecum,carcinoma,0,2	AXDND1	142	2	1	Substitution - Missense(1)	large_intestine(1)	c.G2980C												50.0	54.0	53.0					1																	179504046		2135	4283	6418	SO:0001583	missense	126859	exon25			CAACAAGAAGAAG	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2980G>C	1.37:g.179504046G>C	ENSP00000356590:p.Glu994Gln		280	0.0035714286	1		230	0.03	7	NM_144696	0		0	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266099	0.23136	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.18657	2.2;2.21	4.81	4.81	0.61882	.	0.325544	0.22135	N	0.064137	T	0.23572	0.0570	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.982;0.994	P;P	0.56960	0.709;0.81	T	0.01330	-1.1383	10	0.21014	T	0.42	-2.7717	13.5575	0.61768	0.0:0.0:1.0:0.0	.	878;994	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	994;878;854	ENSP00000356590:E994Q;ENSP00000391716:E854Q	ENSP00000353471:E878Q	E	+	1	0	AXDND1	177770669	0.000000	0.05858	0.079000	0.20413	0.028000	0.11728	0.055000	0.14229	2.655000	0.90218	0.530000	0.56133	GAA			0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085312.1		NM_144696	
C1orf116	79098	broad.mit.edu	37	1	207196070	207196070	+	Missense_Mutation	SNP	G	G	T	rs200569642		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:207196070G>T	ENST00000359470.5	-	4	1288	c.1039C>A	c.(1039-1041)Cgt>Agt	p.R347S	C1orf116_ENST00000461135.2_Missense_Mutation_p.R101S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	347						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTTCTTTACGTGCTTTTCTC	0.562																																					p.R347S													.	C1orf116	64		0			c.C1039A												62.0	64.0	63.0					1																	207196070		2203	4300	6503	SO:0001583	missense	79098	exon4			CTTTACGTGCTTT		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1039C>A	1.37:g.207196070G>T	ENSP00000352447:p.Arg347Ser		103	0	0		72	0.04	3	NM_023938	0		0	C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041153	0.55003	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.12672	2.66;2.66	5.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	M	0.66939	2.045	0.27857	N	0.940541	D	0.89917	1.0	D	0.91635	0.999	T	0.05435	-1.0885	10	0.87932	D	0	-21.9504	14.2303	0.65887	0.0:0.0:0.772:0.2279	.	347	Q9BW04	SARG_HUMAN	S	347;101	ENSP00000352447:R347S;ENSP00000436862:R101S	ENSP00000352447:R347S	R	-	1	0	C1orf116	205262693	0.389000	0.25205	0.720000	0.30636	0.422000	0.31414	1.889000	0.39718	2.608000	0.88229	0.655000	0.94253	CGT			0.562	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088973.1		NM_024115	
ARID5B	84159	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	63700112	63700118	+	Frame_Shift_Del	DEL	AACCCTA	AACCCTA	-			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	AACCCTA	AACCCTA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr10:63700112_63700118delAACCCTA	ENST00000279873.7	+	3	857_863	c.447_453delAACCCTA	c.(445-453)tcaaccctafs	p.STL149fs		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	149					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGGCAGTCAACCCTAAACAGTGGAC	0.449																																					p.149_151del													.	ARID5B	125		0			c.446_452del																																									SO:0001589	frameshift_variant	84159	exon3			GCAGTCAACCCTA	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.447_453delAACCCTA	10.37:g.63700112_63700118delAACCCTA	ENSP00000279873:p.Ser149fs		141	0	0		83	0.43	36	NM_032199	2	0.00	0	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	CCDS31208.1																																																																																					0.449	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048233.1		XM_084482	
NRAP	4892	mdanderson.org	37	10	115423606	115423606	+	Silent	SNP	C	C	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr10:115423606C>A	ENST00000359988.3	-	1	280	c.36G>T	c.(34-36)ggG>ggT	p.G12G	NRAP_ENST00000369358.4_Silent_p.G12G|NRAP_ENST00000360478.3_Silent_p.G12G|NRAP_ENST00000369360.3_Silent_p.G12G	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGATAAACCCCATACCCAC	0.453																																					p.G12G													.	.			0			c.G36T												117.0	106.0	110.0					10																	115423606		2203	4300	6503	SO:0001819	synonymous_variant	4892	exon1			ATAAACCCCATAC		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.36G>T	10.37:g.115423606C>A			73	0	0		49	0.06	3	NM_001261463	0		0		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																					0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050425.2		NM_006175	
WDR11	55717	broad.mit.edu	37	10	122643308	122643308	+	Missense_Mutation	SNP	G	G	T	rs562054895		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr10:122643308G>T	ENST00000263461.6	+	14	2002	c.1756G>T	c.(1756-1758)Gta>Tta	p.V586L	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	243					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTTGGCAGTCGTATTCAGAGA	0.348																																					p.V586L													.	WDR11	95		0			c.G1756T												105.0	101.0	103.0					10																	122643308		2203	4300	6503	SO:0001583	missense	55717	exon14			GCAGTCGTATTCA	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1756G>T	10.37:g.122643308G>T	ENSP00000263461:p.Val586Leu		131	0	0		95	0.03	3	NM_018117	41	0.00	0	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648362	0.29336	.	.	ENSG00000120008	ENST00000263461	T	0.52295	0.67	5.86	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);	0.116646	0.56097	D	0.000021	T	0.39462	0.1079	N	0.17723	0.515	0.54753	D	0.999988	B;B;P	0.44281	0.305;0.305;0.831	B;B;P	0.46685	0.109;0.109;0.524	T	0.12604	-1.0541	10	0.20519	T	0.43	-12.4527	14.8478	0.70272	0.0691:0.0:0.9309:0.0	.	586;586;115	Q9BZH6;B2RCJ6;Q659C9	WDR11_HUMAN;.;.	L	586	ENSP00000263461:V586L	ENSP00000263461:V586L	V	+	1	0	WDR11	122633298	1.000000	0.71417	0.999000	0.59377	0.483000	0.33249	3.886000	0.56190	1.462000	0.47948	0.650000	0.86243	GTA			0.348	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050707.2			
FANK1	92565	mdanderson.org	37	10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	rs202109621		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X													.	.			0			c.C10T												8.0	12.0	11.0					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*		16	0	0		17	0.29	5	NM_145235	4	0.00	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG			0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_145235	
DYNC2H1	79659	broad.mit.edu	37	11	103022865	103022865	+	Splice_Site	SNP	A	A	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr11:103022865A>T	ENST00000375735.2	+	21	3091	c.2947A>T	c.(2947-2949)Att>Ttt	p.I983F	DYNC2H1_ENST00000398093.3_Splice_Site_p.I983F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	983	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACCTTTAGATTTTGCCCTT	0.269																																					p.I983F													.	DYNC2H1	246		0			c.A2947T												35.0	33.0	34.0					11																	103022865		1785	4053	5838	SO:0001630	splice_region_variant	79659	exon21			CTTTAGATTTTGC	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2947-1A>T	11.37:g.103022865A>T			102	0.0490196078	5		86	0.15	13	NM_001377	0		0	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712951	0.48517	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.30981	1.51;1.51	6.05	6.05	0.98169	.	0.322034	0.24488	U	0.038086	T	0.34861	0.0912	M	0.72118	2.19	0.58432	D	0.999999	B;B	0.20368	0.026;0.044	B;B	0.26416	0.021;0.069	T	0.11842	-1.0571	9	.	.	.	.	11.6037	0.51020	0.9313:0.0:0.0687:0.0	.	983;983	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	983	ENSP00000364887:I983F;ENSP00000381167:I983F	.	I	+	1	0	DYNC2H1	102528075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.242000	0.51384	2.323000	0.78572	0.519000	0.50382	ATT			0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387196.1		XM_370652	Missense_Mutation
CKAP4	10970	mdanderson.org	37	12	106633037	106633037	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr12:106633037G>T	ENST00000378026.4	-	2	1710	c.1574C>A	c.(1573-1575)cCt>cAt	p.P525H	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	525						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GTCCTGAGGAGGCAGACGGGC	0.592																																					p.P525H													.	.			0			c.C1574A												68.0	67.0	67.0					12																	106633037		2203	4300	6503	SO:0001583	missense	10970	exon2			TGAGGAGGCAGAC	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1574C>A	12.37:g.106633037G>T	ENSP00000367265:p.Pro525His		46	0	0		52	0.06	3	NM_006825	188	0.00	0	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877565	0.17395	.	.	ENSG00000136026	ENST00000378026	T	0.44083	0.93	5.27	3.11	0.35812	.	0.605730	0.16257	N	0.222401	T	0.31420	0.0796	L	0.47716	1.5	0.09310	N	1	B	0.24721	0.11	B	0.17433	0.018	T	0.16897	-1.0387	10	0.41790	T	0.15	-20.9738	5.6412	0.17565	0.181:0.0:0.5609:0.2581	.	525	Q07065	CKAP4_HUMAN	H	525	ENSP00000367265:P525H	ENSP00000367265:P525H	P	-	2	0	CKAP4	105157167	0.012000	0.17670	0.325000	0.25375	0.598000	0.36846	0.274000	0.18680	1.238000	0.43771	-0.143000	0.13931	CCT			0.592	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407196.1			
KNTC1	9735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	123057483	123057483	+	Splice_Site	SNP	G	G	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr12:123057483G>A	ENST00000333479.7	+	25	2196		c.e25-1		KNTC1_ENST00000450485.2_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTTGTTTTAGAAAGATTATC	0.303																																					.													.	.			0			c.2020-1G>A												46.0	40.0	42.0					12																	123057483		1816	4069	5885	SO:0001630	splice_region_variant	9735	exon25			GTTTTAGAAAGAT		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2020-1G>A	12.37:g.123057483G>A			81	0	0		85	0.31	26	NM_014708	2	0.00	0	A7E2C4|B3KSG2	Splice_Site	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545677	0.65198	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	.	.	.	5.45	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0706	0.25177	0.0696:0.1245:0.6768:0.1291	.	.	.	.	.	-1	.	.	.	+	.	.	KNTC1	121623436	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	0.446000	0.21694	0.261000	0.21753	0.655000	0.94253	.			0.303	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396110.2			Intron
MIPEP	4285	broad.mit.edu	37	13	24436484	24436484	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr13:24436484T>C	ENST00000382172.3	-	9	1108	c.1010A>G	c.(1009-1011)gAg>gGg	p.E337G		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	337					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TCGTATCATCTCAAAATCTTT	0.279																																					p.E337G													.	MIPEP	53		0			c.A1010G												48.0	45.0	46.0					13																	24436484		2196	4287	6483	SO:0001583	missense	4285	exon9			ATCATCTCAAAAT		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1010A>G	13.37:g.24436484T>C	ENSP00000371607:p.Glu337Gly		510	0	0		426	0.01	5	NM_005932	27	0.00	0	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	T	8.888	0.953302	0.18431	.	.	ENSG00000027001	ENST00000382172	T	0.10192	2.9	4.79	3.59	0.41128	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.407837	0.28694	N	0.014452	T	0.09069	0.0224	L	0.29908	0.895	0.30232	N	0.795804	B	0.10296	0.003	B	0.15870	0.014	T	0.06338	-1.0832	10	0.46703	T	0.11	.	11.7181	0.51666	0.0:0.0:0.1481:0.8519	.	337	Q99797	MIPEP_HUMAN	G	337	ENSP00000371607:E337G	ENSP00000371607:E337G	E	-	2	0	MIPEP	23334484	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	4.422000	0.59854	0.939000	0.37446	-0.313000	0.08912	GAG			0.279	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044169.1			
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																					.													.	.			0			.																																											0	.			ATAATAAAGTTCA																													14.37:g.19857036A>G			67	0	0		54	0.07	4	.	0		0		RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000409408.1			
PPP1R36	145376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	65054073	65054073	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr14:65054073G>A	ENST00000298705.1	+	10	969	c.873G>A	c.(871-873)atG>atA	p.M291I	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	291					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGAAACGCATGACTTTTGTTC	0.393																																					p.M291I													.	.			0			c.G873A												103.0	106.0	105.0					14																	65054073		2203	4300	6503	SO:0001583	missense	145376	exon10			ACGCATGACTTTT		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.873G>A	14.37:g.65054073G>A	ENSP00000298705:p.Met291Ile		68	0	0		101	0.26	26	NM_172365	4	0.50	2	Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810935	0.50421	.	.	ENSG00000165807	ENST00000298705	T	0.33216	1.42	5.55	5.55	0.83447	.	0.070289	0.64402	D	0.000012	T	0.35278	0.0926	M	0.73962	2.25	0.38600	D	0.950646	B	0.25169	0.119	B	0.15052	0.012	T	0.20207	-1.0282	10	0.38643	T	0.18	-26.4133	15.0284	0.71687	0.0:0.0:1.0:0.0	.	291	Q96LQ0	PPR36_HUMAN	I	291	ENSP00000298705:M291I	ENSP00000298705:M291I	M	+	3	0	C14orf50	64123826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.471000	0.60182	2.596000	0.87737	0.655000	0.94253	ATG			0.393	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000280667.1		NM_172365	
VRTN	55237	mdanderson.org	37	14	74823869	74823869	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr14:74823869T>C	ENST00000256362.4	+	2	624	c.383T>C	c.(382-384)gTg>gCg	p.V128A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	128					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GACTCCAAAGTGATGCTGCAG	0.637																																					p.V128A													.	.			0			c.T383C												70.0	66.0	67.0					14																	74823869		2203	4300	6503	SO:0001583	missense	55237	exon2			CCAAAGTGATGCT	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.383T>C	14.37:g.74823869T>C	ENSP00000256362:p.Val128Ala		37	0	0		45	0.07	3	NM_018228	16	0.00	0	Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195408	0.78902	.	.	ENSG00000133980	ENST00000256362	T	0.44881	0.91	5.04	5.04	0.67666	.	0.081416	0.56097	D	0.000035	T	0.46521	0.1397	N	0.24115	0.695	0.43734	D	0.996224	D	0.67145	0.996	P	0.60473	0.875	T	0.50491	-0.8822	10	0.72032	D	0.01	-0.4685	13.4832	0.61348	0.0:0.0:0.0:1.0	.	128	Q9H8Y1	VRTN_HUMAN	A	128	ENSP00000256362:V128A	ENSP00000256362:V128A	V	+	2	0	VRTN	73893622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.133000	0.77259	2.119000	0.64992	0.454000	0.30748	GTG			0.637	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412339.1		NM_018228	
HERC2P2	400322	broad.mit.edu	37	15	23283044	23283044	+	RNA	SNP	T	T	C	rs373395896		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr15:23283044T>C	ENST00000560464.1	-	0	5206									hect domain and RLD 2 pseudogene 2																		AGTGCTGTGCTCATCTTCCTG	0.507																																					.													.	.			0			.																																											0	.			CTGTGCTCATCTT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23283044T>C			11	0	0		2	1.00	2	.	60	0.00	0		RNA	SNP	ENST00000560464.1	37																																																																																						0.507	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000415936.1			
SKOR1	390598	mdanderson.org	37	15	68125019	68125019	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr15:68125019G>T	ENST00000380035.2	+	7	2795	c.2737G>T	c.(2737-2739)Gat>Tat	p.D913Y	SKOR1_ENST00000341418.5_Splice_Site_p.D816Y|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000389002.1_Splice_Site_p.D869Y|SKOR1_ENST00000554054.1_Splice_Site_p.D885Y|SKOR1_ENST00000554240.1_Splice_Site_p.D874Y|RP11-34F13.3_ENST00000558889.1_RNA			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	913					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AATTGTCAGAGGTAAGACGGG	0.463											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D816Y													.	.			0			c.G2446T												62.0	58.0	60.0					15																	68125019		2200	4298	6498	SO:0001630	splice_region_variant	390598	exon13			GTCAGAGGTAAGA		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2737+1G>T	15.37:g.68125019G>T			43	0	0	1104	36	0.08	3	NM_001258024	0		0	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37		.	.	.	.	.	.	.	.	.	.	G	18.87	3.715220	0.68844	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.76578	-1.03;-1.0;-1.0;-1.0;-1.0	5.16	4.24	0.50183	.	0.121832	0.53938	D	0.000056	T	0.81230	0.4779	L	0.29908	0.895	0.53005	D	0.99996	D	0.89917	1.0	D	0.85130	0.997	T	0.83039	-0.0158	10	0.87932	D	0	-22.4353	13.2363	0.59971	0.0778:0.0:0.9222:0.0	.	869	P84550-3	.	Y	816;874;885;913;869	ENSP00000343200:D816Y;ENSP00000451193:D874Y;ENSP00000452361:D885Y;ENSP00000369374:D913Y;ENSP00000373654:D869Y	ENSP00000343200:D816Y	D	+	1	0	SKOR1	65912073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.002000	0.93572	1.162000	0.42619	0.462000	0.41574	GAT			0.463	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000410832.1		NM_001031807	Missense_Mutation
CSPG4	1464	mdanderson.org	37	15	75968620	75968620	+	Silent	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr15:75968620C>T	ENST00000308508.5	-	10	6332	c.6240G>A	c.(6238-6240)gtG>gtA	p.V2080V	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2080	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGAAGCGCGGCACACTGCCTG	0.726																																					p.V2080V													.	.			0			c.G6240A												14.0	14.0	14.0					15																	75968620		2190	4284	6474	SO:0001819	synonymous_variant	1464	exon10			GCGCGGCACACTG	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6240G>A	15.37:g.75968620C>T			30	0	0		12	0.17	2	NM_001897	3	0.00	0	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																					0.726	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286472.1		NM_001897	
CHRNB4	1143	mdanderson.org	37	15	78922241	78922241	+	Silent	SNP	G	G	T	rs141876090	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr15:78922241G>T	ENST00000261751.3	-	5	517	c.406C>A	c.(406-408)Cgg>Agg	p.R136R	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	136			R -> W (in dbSNP:rs141876090). {ECO:0000269|PubMed:11450844}.		action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CCGTTGGACCGGACTATCAAG	0.572																																					p.R136R													.	.			0			c.C406A	GRCh37	CM057870	CHRNB4	M	rs141876090							40.0	44.0	43.0					15																	78922241		2196	4292	6488	SO:0001819	synonymous_variant	1143	exon5			TGGACCGGACTAT	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.406C>A	15.37:g.78922241G>T			28	0	0		21	0.10	2	NM_000750	16	0.00	0	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																					0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000290108.1			
ZNF785	146540	broad.mit.edu	37	16	30594036	30594036	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr16:30594036G>T	ENST00000395216.2	-	3	1222	c.1063C>A	c.(1063-1065)Ctg>Atg	p.L355M	AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.L340M|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGGGCTTCCAGGGCGGTCTTG	0.652																																					p.L355M													.	ZNF785	30		0			c.C1063A												57.0	61.0	60.0					16																	30594036		2197	4300	6497	SO:0001583	missense	146540	exon3			CTTCCAGGGCGGT	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1063C>A	16.37:g.30594036G>T	ENSP00000378642:p.Leu355Met		53	0	0		44	0.07	3	NM_152458	8	0.00	0	O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	g	17.70	3.454582	0.63290	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.69040	-0.37;-0.37	4.33	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72486	0.3466	M	0.67953	2.075	0.09310	N	1	D;D;P	0.89917	0.959;1.0;0.95	P;D;P	0.87578	0.618;0.998;0.483	T	0.60915	-0.7168	9	0.87932	D	0	.	1.2726	0.02024	0.3211:0.1425:0.3911:0.1453	.	320;355;340	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	M	340;320;355	ENSP00000420340:L340M;ENSP00000378642:L355M	ENSP00000378642:L355M	L	-	1	2	ZNF785	30501537	0.000000	0.05858	0.000000	0.03702	0.947000	0.59692	-0.215000	0.09279	-0.616000	0.05671	0.644000	0.83932	CTG			0.652	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255529.2		NM_152458	
TMEM231	79583	mdanderson.org	37	16	75590079	75590079	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr16:75590079G>T	ENST00000258173.6	-	1	105	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	TMEM231_ENST00000568377.1_Silent_p.R7R|TMEM231_ENST00000569294.1_5'Flank|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Missense_Mutation_p.P10Q	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	10					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCGCTCGACCGGGTGAGAGAA	0.672																																					p.R31R													.	.			0			c.C91A												6.0	7.0	6.0					16																	75590079		1820	3914	5734	SO:0001583	missense	79583	exon1			TCGACCGGGTGAG		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.29C>A	16.37:g.75590079G>T	ENSP00000258173:p.Pro10Gln		25	0.04	1		16	0.13	2	NM_001077416	4	0.00	0	A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Silent	SNP	ENST00000258173.6	37	CCDS45530.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541197	0.85917	.	.	ENSG00000205084	ENST00000258173	T	0.65364	-0.15	5.57	5.57	0.84162	.	.	.	.	.	T	0.81074	0.4747	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82436	-0.0458	8	0.66056	D	0.02	-7.1534	18.4998	0.90877	0.0:0.0:1.0:0.0	.	10	Q9H6L2	TM231_HUMAN	Q	10	ENSP00000258173:P10Q	ENSP00000258173:P10Q	P	-	2	0	TMEM231	74147580	1.000000	0.71417	0.966000	0.40874	0.969000	0.65631	7.930000	0.87610	2.780000	0.95670	0.655000	0.94253	CCG			0.672	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435481.2		NM_001077416	
RAI1	10743	mdanderson.org	37	17	17697105	17697105	+	Silent	SNP	G	G	A	rs398124422|rs587780431		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr17:17697105G>A	ENST00000353383.1	+	3	1312	c.843G>A	c.(841-843)caG>caA	p.Q281Q	RAI1_ENST00000261641.6_Silent_p.Q281Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	281	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		agcagcagcagcagcagcagc	0.632																																					p.Q281Q													.	.			0			c.G843A												20.0	25.0	24.0					17																	17697105		2020	4001	6021	SO:0001819	synonymous_variant	10743	exon3			GCAGCAGCAGCAG	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.843G>A	17.37:g.17697105G>A			90	0.0222222222	2		78	0.05	4	NM_030665	0		0	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	CCDS11188.1																																																																																					0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131775.1		NM_030665	
LOC101927755	101927755	broad.mit.edu	37	17	58054437	58054438	+	lincRNA	INS	-	-	A	rs568051664	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr17:58054437_58054438insA	ENST00000586209.1	+	0	158																											catgcttacagaaaaaaaaatg	0.287													aaaaaaaaaa|AAAAAAAAA|AAAAAAAAAA|deletion	12	0.00239617	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0				.													.	.			0			.																																											0	.			CTTACAGAAAAAA																													17.37:g.58054446_58054446dupA			16	0	0		10	0.20	2	.	0		0		RNA	INS	ENST00000586209.1	37																																																																																						0.287	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000449162.1			
TJP3	27134	mdanderson.org	37	19	3746030	3746030	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:3746030G>T	ENST00000541714.2	+	16	2423	c.1961G>T	c.(1960-1962)aGc>aTc	p.S654I	TJP3_ENST00000589378.1_Missense_Mutation_p.S663I|TJP3_ENST00000587686.1_Missense_Mutation_p.S673I|TJP3_ENST00000382008.3_Missense_Mutation_p.S668I|TJP3_ENST00000539908.2_Missense_Mutation_p.S618I|TJP3_ENST00000262968.9_Missense_Mutation_p.S687I	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	654	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACCGACAGCCCCTCCAAG	0.597																																					p.S663I													.	.			0			c.G1988T												64.0	56.0	59.0					19																	3746030		2203	4300	6503	SO:0001583	missense	27134	exon16			CCGACAGCCCCTC	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1961G>T	19.37:g.3746030G>T	ENSP00000439278:p.Ser654Ile		103	0	0		77	0.05	4	NM_001267561	43	0.00	0	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	14.27	2.483938	0.44147	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09163	3.01;3.18;3.01;3.11	4.35	3.27	0.37495	Guanylate kinase/L-type calcium channel (1);	0.320762	0.31648	N	0.007283	T	0.16854	0.0405	L	0.43923	1.385	0.47037	D	0.999294	P;P;P;P	0.50710	0.938;0.545;0.901;0.831	P;P;B;P	0.52909	0.555;0.499;0.368;0.713	T	0.00733	-1.1589	10	0.66056	D	0.02	.	11.3785	0.49743	0.0:0.1836:0.8164:0.0	.	673;687;668;654	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	I	654;618;668;687	ENSP00000439278:S654I;ENSP00000439991:S618I;ENSP00000371438:S668I;ENSP00000262968:S687I	ENSP00000262968:S687I	S	+	2	0	TJP3	3697030	0.865000	0.29922	0.384000	0.26145	0.283000	0.27025	1.330000	0.33781	0.772000	0.33382	0.462000	0.41574	AGC			0.597	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000453434.1			
ADAMTS10	81794	mdanderson.org	37	19	8665878	8665878	+	Silent	SNP	G	G	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:8665878G>A	ENST00000597188.1	-	6	1014	c.744C>T	c.(742-744)gaC>gaT	p.D248D	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.D248D	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	248	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCATCATCTTGTCAGCCACCA	0.632																																					p.D248D													.	.			0			c.C744T												103.0	89.0	94.0					19																	8665878		2203	4300	6503	SO:0001819	synonymous_variant	81794	exon6			CATCTTGTCAGCC	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.744C>T	19.37:g.8665878G>A			64	0	0		67	0.06	4	NM_030957	0		0	M0QZE4	Silent	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289628	0.23478	.	.	ENSG00000142303	ENST00000393912	.	.	.	5.12	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.898	0.35476	0.1691:0.0:0.8309:0.0	.	.	.	.	X	1	.	ENSP00000377489:Q1X	Q	-	1	0	ADAMTS10	8571878	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.106000	0.41835	1.160000	0.42584	0.400000	0.26472	CAA			0.632	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460085.3		NM_030957	
ILVBL	10994	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	15230298	15230298	+	Missense_Mutation	SNP	C	C	T	rs149721143		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:15230298C>T	ENST00000263383.3	-	8	984	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.R175Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	282						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCTCTTGGCCCGGCTCAGGAT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		17127	0.0		0.0	False		,,,				2504	0.001				p.R282Q													.	.			0			c.G845A							C	GLN/ARG	0,4406		0,0,2203	38.0	38.0	38.0		845	5.3	1.0	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ILVBL	NM_006844.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	282/633	15230298	1,13005	2203	4300	6503	SO:0001583	missense	10994	exon8			TTGGCCCGGCTCA	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.845G>A	19.37:g.15230298C>T	ENSP00000263383:p.Arg282Gln		237	0	0		209	0.05	11	NM_006844	70	0.03	2	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904677	0.72868	0.0	1.16E-4	ENSG00000105135	ENST00000263383	T	0.39997	1.05	5.28	5.28	0.74379	Thiamine pyrophosphate enzyme, central domain (1);	0.204150	0.43110	D	0.000614	T	0.33352	0.0860	L	0.32530	0.975	0.54753	D	0.999988	P	0.39116	0.66	B	0.34452	0.183	T	0.18555	-1.0333	10	0.49607	T	0.09	-32.5032	16.3909	0.83537	0.0:1.0:0.0:0.0	.	282	A1L0T0	ILVBL_HUMAN	Q	282	ENSP00000263383:R282Q	ENSP00000263383:R282Q	R	-	2	0	ILVBL	15091298	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.418000	0.66429	2.471000	0.83476	0.655000	0.94253	CGG	0		0.547	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385439.1		NM_006844	
HSH2D	84941	broad.mit.edu	37	19	16268133	16268133	+	Silent	SNP	T	T	G			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:16268133T>G	ENST00000253680.6	+	8	1119	c.588T>G	c.(586-588)ctT>ctG	p.L196L	HSH2D_ENST00000397372.4_Silent_p.L107L|HSH2D_ENST00000593154.2_Silent_p.L196L|HSH2D_ENST00000588246.1_Silent_p.L196L			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	196					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AATCCCCTCTTGGAGAGACCC	0.557																																					p.L196L													.	HSH2D	16		0			c.T588G												41.0	49.0	47.0					19																	16268133		1841	4080	5921	SO:0001819	synonymous_variant	84941	exon8			CCCTCTTGGAGAG	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.588T>G	19.37:g.16268133T>G			137	0.0510948905	7		104	0.06	6	NM_032855	10	0.00	0	B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37																																																																																						0.557	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_032855	
ZNF676	163223	ucsc.edu	37	19	22363172	22363172	+	Silent	SNP	G	G	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	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			78	0.0641025641	5		62	0.08	5	NM_001001411	58	0.16	9	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	33517507	33517507	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(2)		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)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M													RHPN2,face,carcinoma,0,2	RHPN2	0	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A												84.0	83.0	83.0					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	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.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met		29	0	0		21	0.10	2	NM_033103	34	0.00	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG			0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103	
CIC	23152	broad.mit.edu	37	19	42795827	42795828	+	Frame_Shift_Ins	INS	-	-	C	rs374527943|rs201351852|rs200818391	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:42795827_42795828insC	ENST00000575354.2	+	11	2856_2857	c.2816_2817insC	c.(2815-2820)ggccagfs	p.Q940fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.Q1849fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.Q940fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	940	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGAGGGGCCGGCCAGCCACTGC	0.693			"""Mis, F, S"""		oligodendroglioma																																p.G939fs				Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC	249		0			c.2816_2817insC																																									SO:0001589	frameshift_variant	23152	exon11			GGGCCGGCCAGCC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2818dupC	19.37:g.42795829_42795829dupC	ENSP00000458663:p.Gln940fs		123	0	0		87	0.11	10	NM_015125	28	0.00	0	Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	CCDS12601.1																																																																																					0.693	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438532.2			
APOC1P1	342	broad.mit.edu	37	19	45431267	45431268	+	RNA	INS	-	-	A	rs200256644		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:45431267_45431268insA	ENST00000574565.1	+	0	402					NR_028412.1				apolipoprotein C-I pseudogene 1																		TGAACAGATTGAAAAAAAAAAC	0.525																																					.													.	.			0			.																																											0	.			CAGATTGAAAAAA	M20903		19q13.32	2014-03-18			ENSG00000214855	ENSG00000214855			608	pseudogene	pseudogene							Standard	NR_028412		Approved		uc021uvm.1		OTTHUMG00000177534		19.37:g.45431277_45431277dupA			7	0	0		6	0.33	2	.	0		0		RNA	INS	ENST00000574565.1	37																																																																																						0.525	APOC1P1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000437392.1			
MARK4	57787	broad.mit.edu	37	19	45801078	45801078	+	Silent	SNP	T	T	G			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:45801078T>G	ENST00000262891.4	+	15	2074	c.1743T>G	c.(1741-1743)ggT>ggG	p.G581G	MARK4_ENST00000300843.4_Silent_p.G581G	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	581					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGCAGGGGGTGGGGGTGGTG	0.746																																					p.G581G													MARK4_ENST00000262891,NS,carcinoma,+2,2	MARK4	132	2	0			c.T1743G												2.0	3.0	3.0					19																	45801078		1753	3561	5314	SO:0001819	synonymous_variant	57787	exon15			AGGGGGTGGGGGT	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1743T>G	19.37:g.45801078T>G			40	0.175	7		28	0.25	7	NM_001199867	3	0.67	2	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	CCDS56097.1																																																																																					0.746	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457537.1		NM_031417	
KCNJ14	3770	broad.mit.edu	37	19	48967637	48967637	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:48967637G>T	ENST00000391884.1	+	2	1390	c.914G>T	c.(913-915)gGg>gTg	p.G305V	CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.6_ENST00000597574.1_lincRNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.G305V|CTC-273B12.5_ENST00000600529.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	305					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	ATTCTCGAGGGGATGGTTGAG	0.577																																					p.P305L	NSCLC(148;170 3504 35216)												.	KCNJ14	28		0			c.C914T												110.0	81.0	91.0					19																	48967637		2203	4300	6503	SO:0001583	missense	3770	exon3			TCGAGGGGATGGT	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.914G>T	19.37:g.48967637G>T	ENSP00000375756:p.Gly305Val		122	0	0		94	0.04	4	NM_013348	2	0.00	0		Missense_Mutation	SNP	ENST00000391884.1	37	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662871	0.88251	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.95518	-3.73;-3.73	5.24	5.24	0.73138	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99312	1.0904	10	0.87932	D	0	.	17.1398	0.86749	0.0:0.0:1.0:0.0	.	305	Q9UNX9	IRK14_HUMAN	V	305	ENSP00000341479:G305V;ENSP00000375756:G305V	ENSP00000341479:G305V	G	+	2	0	KCNJ14	53659449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	GGG			0.577	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466127.1		NM_013348	
PLEKHA4	57664	mdanderson.org	37	19	49362295	49362295	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:49362295G>T	ENST00000263265.6	-	8	1349	c.794C>A	c.(793-795)cCc>cAc	p.P265H	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P265H|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	265	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCGGGCAGGGGGTGCTGTGTC	0.706																																					p.P265H													.	.			0			c.C794A												8.0	9.0	9.0					19																	49362295		2150	4205	6355	SO:0001583	missense	57664	exon8			GCAGGGGGTGCTG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.794C>A	19.37:g.49362295G>T	ENSP00000263265:p.Pro265His		33	0.0606060606	2		36	0.08	3	NM_001161354	11	0.00	0	Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612788	0.46631	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.14766	3.04;2.48	4.18	1.87	0.25490	.	0.488841	0.19331	N	0.116886	T	0.10423	0.0255	N	0.24115	0.695	0.09310	N	1	P;P	0.48162	0.867;0.906	P;P	0.50378	0.639;0.533	T	0.16748	-1.0392	10	0.15499	T	0.54	.	4.49	0.11808	0.442:0.0:0.558:0.0	.	265;265	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	H	265	ENSP00000263265:P265H;ENSP00000347683:P265H	ENSP00000263265:P265H	P	-	2	0	PLEKHA4	54054107	0.051000	0.20477	0.009000	0.14445	0.962000	0.63368	0.643000	0.24750	0.515000	0.28320	0.400000	0.26472	CCC			0.706	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466216.1			
KCNC3	3748	mdanderson.org	37	19	50831677	50831677	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:50831677G>T	ENST00000477616.1	-	1	957	c.663C>A	c.(661-663)gaC>gaA	p.D221E	NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000376959.2_Missense_Mutation_p.D221E|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	221					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CCAGGCCTCCGTCGTGGGCGC	0.796																																					p.D221E	Melanoma(91;1496 2324 50908)												.	.			0			c.C663A												2.0	3.0	3.0					19																	50831677		1255	2854	4109	SO:0001583	missense	3748	exon1			GCCTCCGTCGTGG	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.663C>A	19.37:g.50831677G>T	ENSP00000434241:p.Asp221Glu		13	0	0		10	0.20	2	NM_004977	0		0		Missense_Mutation	SNP	ENST00000477616.1	37	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	g	4.726	0.135003	0.09032	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.97850	-4.56;-4.57	2.03	-0.568	0.11760	.	.	.	.	.	D	0.90672	0.7074	N	0.17082	0.46	0.09310	N	0.999997	B	0.21606	0.058	B	0.12837	0.008	T	0.82100	-0.0624	9	0.02654	T	1	.	5.5012	0.16829	0.3534:0.0:0.6466:0.0	.	221	Q14003	KCNC3_HUMAN	E	221;221;35	ENSP00000366158:D221E;ENSP00000434241:D221E	ENSP00000366158:D221E	D	-	3	2	KCNC3	55523489	0.132000	0.22450	0.084000	0.20598	0.432000	0.31715	0.145000	0.16157	-0.191000	0.10448	0.154000	0.16183	GAC			0.796	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314288.2		NM_004977	
MYCN	4613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	16085979	16085979	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:16085979C>A	ENST00000281043.3	+	3	1452	c.1155C>A	c.(1153-1155)aaC>aaA	p.N385K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	385	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTCGCAGAAACCACAACATCC	0.612			A		neuroblastoma																																p.N385K				Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	.	.			0			c.C1155A												71.0	74.0	73.0					2																	16085979		2203	4300	6503	SO:0001583	missense	4613	exon3			CAGAAACCACAAC	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1155C>A	2.37:g.16085979C>A	ENSP00000281043:p.Asn385Lys		125	0	0		126	0.25	31	NM_005378	662	0.31	204	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126026	0.56721	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.97811	-4.55	5.14	3.35	0.38373	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.97315	0.9122	L	0.38838	1.175	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.96875	0.9642	10	0.66056	D	0.02	-20.9693	11.8257	0.52265	0.0:0.8565:0.0:0.1435	.	385	P04198	MYCN_HUMAN	K	385;303	ENSP00000281043:N385K	ENSP00000281043:N385K	N	+	3	2	MYCN	16003430	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	3.866000	0.56040	0.702000	0.31825	-0.208000	0.12717	AAC			0.612	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095469.2		NM_005378	
SPRED2	200734	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	65571938	65571938	+	Missense_Mutation	SNP	C	C	T	rs201064965		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:65571938C>T	ENST00000356388.4	-	2	308	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SPRED2_ENST00000443619.2_Missense_Mutation_p.R37H|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	40	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GACCCCGACGCGACTGATCCC	0.532																																					p.R40H													SPRED2,NS,carcinoma,+1,1	SPRED2	1	1	0			c.G119A												101.0	83.0	89.0					2																	65571938		2203	4300	6503	SO:0001583	missense	200734	exon2			CCGACGCGACTGA	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.119G>A	2.37:g.65571938C>T	ENSP00000348753:p.Arg40His		127	0	0		151	0.05	8	NM_181784	203	0.08	17	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326194	0.81580	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000440972	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	4.98	4.98	0.66077	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	L	0.31752	0.955	0.80722	D	1	B;D	0.89917	0.253;1.0	B;D	0.91635	0.06;0.999	D	0.96776	0.9572	10	0.14656	T	0.56	-24.5378	18.2435	0.89977	0.0:1.0:0.0:0.0	.	37;40	E9PEP0;Q7Z698	.;SPRE2_HUMAN	H	40;37;55;40	ENSP00000348753:R40H;ENSP00000393697:R37H;ENSP00000390595:R55H;ENSP00000406481:R40H	ENSP00000348753:R40H	R	-	2	0	SPRED2	65425442	1.000000	0.71417	0.993000	0.49108	0.862000	0.49288	6.049000	0.71053	2.281000	0.76405	0.305000	0.20034	CGC			0.532	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000327632.1			
RGPD8	727851	hgsc.bcm.edu	37	2	113147115	113147115	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:113147115A>C	ENST00000302558.3	-	20	3598	c.3407T>G	c.(3406-3408)tTc>tGc	p.F1136C	RGPD8_ENST00000409750.1_Missense_Mutation_p.F996C	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1136	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						ACCATCAGAGAAATCACTGGC	0.448																																					p.F1136C													RGPD8_ENST00000302558,NS,carcinoma,+1,2	RGPD8_ENST00000302558	1	2	0			c.T3407G												14.0	12.0	13.0					2																	113147115		690	1576	2266	SO:0001583	missense	727851	exon20			TCAGAGAAATCAC	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3407T>G	2.37:g.113147115A>C	ENSP00000306637:p.Phe1136Cys		33	0	0		40	0.15	6	NM_001164463	21	0.38	8	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	8.040	0.763646	0.15914	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.50548	0.74;0.74	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.59878	0.2226	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56938	-0.7896	9	0.39692	T	0.17	-20.8369	8.205	0.31449	1.0:0.0:0.0:0.0	.	1136	O14715	RGPD8_HUMAN	C	1136;996	ENSP00000306637:F1136C;ENSP00000386511:F996C	ENSP00000306637:F1136C	F	-	2	0	RGPD8	112863586	1.000000	0.71417	0.999000	0.59377	0.371000	0.29859	7.207000	0.77899	1.068000	0.40764	0.128000	0.15822	TTC			0.448	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375951.1		XM_001722279	
DBI	1622	mdanderson.org	37	2	120129857	120129857	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:120129857A>G	ENST00000355857.3	+	4	358	c.227A>G	c.(226-228)aAc>aGc	p.N76S	DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Missense_Mutation_p.N93S|DBI_ENST00000535757.1_Missense_Mutation_p.N93S|DBI_ENST00000393103.2_Missense_Mutation_p.N77S|DBI_ENST00000311521.4_Missense_Mutation_p.N93S|DBI_ENST00000542275.1_Missense_Mutation_p.N137S|DBI_ENST00000535617.1_Missense_Mutation_p.N118S	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	76	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GCTTACATCAACAAAGTAGAA	0.418																																					p.N137S													.	.			0			c.A410G												148.0	137.0	141.0					2																	120129857		2203	4300	6503	SO:0001583	missense	1622	exon4			ACATCAACAAAGT	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.227A>G	2.37:g.120129857A>G	ENSP00000348116:p.Asn76Ser		37	0	0		51	0.06	3	NM_001178017	707	0.00	0	B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.799611	0.31869	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.54	4.34	0.51931	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.878096	0.10375	N	0.682270	T	0.10766	0.0263	N	0.05592	-0.015	0.09310	N	1	B;B;B;B;B	0.15141	0.0;0.012;0.003;0.0;0.0	B;B;B;B;B	0.21917	0.007;0.037;0.007;0.004;0.002	T	0.25082	-1.0142	10	0.09843	T	0.71	10.3937	9.6925	0.40136	0.8265:0.1735:0.0:0.0	.	86;118;77;93;76	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	S	76;118;93;93;93;137;77	ENSP00000348116:N76S;ENSP00000442917:N118S;ENSP00000439012:N93S;ENSP00000386486:N93S;ENSP00000311117:N93S;ENSP00000440698:N137S;ENSP00000376815:N77S	ENSP00000311117:N93S	N	+	2	0	DBI	119846327	0.000000	0.05858	0.879000	0.34478	0.920000	0.55202	0.393000	0.20817	2.326000	0.78906	0.533000	0.62120	AAC			0.418	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330590.1		NM_020548	
DLX2	1746	broad.mit.edu	37	2	172967030	172967030	+	Silent	SNP	G	G	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:172967030G>C	ENST00000234198.4	-	1	598	c.237C>G	c.(235-237)ggC>ggG	p.G79G	AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_Silent_p.G79G	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	79	Poly-Gly.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCGAgcccccgccgccgccgc	0.677																																					p.G79G	GBM(188;775 2993 11256 23072)												.	DLX2	29		0			c.C237G												20.0	23.0	22.0					2																	172967030		2191	4286	6477	SO:0001819	synonymous_variant	1746	exon1			GCCCCCGCCGCCG	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.237C>G	2.37:g.172967030G>C			98	0.1224489796	12		108	0.12	13	NM_004405	1	0.00	0	B4DMK4|B7ZA14	Silent	SNP	ENST00000234198.4	37	CCDS2248.1																																																																																					0.677	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255368.3			
IHH	3549	mdanderson.org	37	2	219925070	219925070	+	Silent	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:219925070C>T	ENST00000295731.6	-	1	119	c.120G>A	c.(118-120)ccG>ccA	p.P40P	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	40					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTTGCGTGGCGGTCGCCGGC	0.697																																					p.P40P													.	.			0			c.G120A												21.0	26.0	24.0					2																	219925070		2186	4291	6477	SO:0001819	synonymous_variant	3549	exon1			GCGTGGCGGTCGC	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.120G>A	2.37:g.219925070C>T			55	0	0		48	0.06	3	NM_002181	2	0.00	0	B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	CCDS33380.1																																																																																					0.697	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336408.2		NM_002181	
CHD6	84181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	40033237	40033237	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr20:40033237T>C	ENST00000373233.3	-	37	8321	c.8144A>G	c.(8143-8145)aAt>aGt	p.N2715S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2715					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAAGTTCTAATTGGTGTCGTT	0.458																																					p.N2715S													.	.			0			c.A8144G												97.0	105.0	102.0					20																	40033237		2203	4300	6503	SO:0001583	missense	84181	exon37			TTCTAATTGGTGT	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8144A>G	20.37:g.40033237T>C	ENSP00000362330:p.Asn2715Ser		139	0	0		154	0.24	37	NM_032221	19	0.21	4	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898306	0.72639	.	.	ENSG00000124177	ENST00000373233	D	0.86627	-2.15	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000011	T	0.81389	0.4812	L	0.32530	0.975	0.80722	D	1	P	0.46395	0.877	B	0.37480	0.251	D	0.84182	0.0440	10	0.66056	D	0.02	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	2715	Q8TD26	CHD6_HUMAN	S	2715	ENSP00000362330:N2715S	ENSP00000362330:N2715S	N	-	2	0	CHD6	39466651	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.956000	0.70315	2.291000	0.77112	0.533000	0.62120	AAT			0.458	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079270.1			
ADNP	23394	broad.mit.edu	37	20	49508788	49508788	+	Silent	SNP	G	G	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr20:49508788G>A	ENST00000396029.3	-	5	3030	c.2463C>T	c.(2461-2463)ggC>ggT	p.G821G	ADNP_ENST00000371602.4_Silent_p.G821G|ADNP_ENST00000349014.3_Silent_p.G821G|ADNP_ENST00000396032.3_Silent_p.G821G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	821					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCAGCAACACGCCAGGCTTGT	0.398																																					p.G821G													.	ADNP	106		0			c.C2463T												97.0	93.0	95.0					20																	49508788		2203	4300	6503	SO:0001819	synonymous_variant	23394	exon5			CAACACGCCAGGC	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2463C>T	20.37:g.49508788G>A			194	0	0		248	0.02	4	NM_015339	122	0.00	0	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																					0.398	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079705.2		NM_181442	
KCNG1	3755	bcgsc.ca	37	20	49621194	49621194	+	Silent	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr20:49621194G>T	ENST00000371571.4	-	3	1209	c.924C>A	c.(922-924)gcC>gcA	p.A308A	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	308					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGGCAGGATGGCCACCAGGT	0.687																																					p.A308A													.	KCNG1	86		0			c.C924A												23.0	23.0	23.0					20																	49621194		2192	4293	6485	SO:0001819	synonymous_variant	3755	exon3			CAGGATGGCCACC	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.924C>A	20.37:g.49621194G>T			74	0	0		80	0.06	5	NM_002237	9	0.00	0	A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	CCDS13436.1																																																																																					0.687	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079726.4		NM_002237	
ZNRF3	84133	mdanderson.org	37	22	29446448	29446448	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr22:29446448G>A	ENST00000544604.2	+	8	2454	c.2279G>A	c.(2278-2280)gGc>gAc	p.G760D	ZNRF3_ENST00000402174.1_Missense_Mutation_p.G660D|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G660D|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G660D	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	760					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGCTTGTACGGCCTTCACCCC	0.667																																					p.G760D													.	.			0			c.G2279A												15.0	16.0	16.0					22																	29446448		1901	4068	5969	SO:0001583	missense	84133	exon8			TGTACGGCCTTCA	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2279G>A	22.37:g.29446448G>A	ENSP00000443824:p.Gly760Asp		37	0	0		41	0.07	3	NM_001206998	101	0.00	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241510	0.39598	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.91	4.91	0.64330	.	0.627487	0.17300	N	0.179292	D	0.82568	0.5065	L	0.47716	1.5	0.34846	D	0.741177	D	0.61080	0.989	P	0.57009	0.811	D	0.86972	0.2098	10	0.62326	D	0.03	-17.3899	17.9645	0.89096	0.0:0.0:1.0:0.0	.	760	Q9ULT6	ZNRF3_HUMAN	D	760;660;467;660;660	ENSP00000443824:G760D;ENSP00000328614:G660D;ENSP00000384456:G660D;ENSP00000384553:G660D	ENSP00000328614:G660D	G	+	2	0	ZNRF3	27776448	1.000000	0.71417	0.780000	0.31762	0.019000	0.09904	6.766000	0.74970	2.659000	0.90383	0.655000	0.94253	GGC			0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972	
PLA2G6	8398	mdanderson.org	37	22	38528898	38528898	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr22:38528898G>T	ENST00000332509.3	-	7	1200	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	PLA2G6_ENST00000402064.1_Missense_Mutation_p.H339Q|PLA2G6_ENST00000335539.3_Missense_Mutation_p.H339Q	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	339					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CGTTGGCCCCGTGGGTCAGCA	0.706																																					p.H339Q													.	.			0			c.C1017A												42.0	26.0	31.0					22																	38528898		2175	4262	6437	SO:0001583	missense	8398	exon7			GGCCCCGTGGGTC	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1017C>A	22.37:g.38528898G>T	ENSP00000333142:p.His339Gln		59	0	0		39	0.08	3	NM_001004426	15	0.00	0	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.52|18.52	3.641213|3.641213	0.67244|0.67244	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.66460|.	-0.21;-0.21;-0.21|.	5.31|5.31	0.201|0.201	0.15186|0.15186	Ankyrin repeat-containing domain (3);|.	0.607593|.	0.17407|.	N|.	0.175332|.	T|T	0.54598|0.54598	0.1868|0.1868	L|L	0.45051|0.45051	1.395|1.395	0.52501|0.52501	D|D	0.999954|0.999954	D;P;P|.	0.76494|.	0.999;0.755;0.881|.	D;B;P|.	0.71184|.	0.972;0.371;0.842|.	T|T	0.48703|0.48703	-0.9012|-0.9012	10|5	0.66056|.	D|.	0.02|.	-10.2238|-10.2238	11.3098|11.3098	0.49358|0.49358	0.358:0.0:0.642:0.0|0.358:0.0:0.642:0.0	.|.	304;339;339|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	Q|K	339;200;339;339;267;339;304|144;91;170	ENSP00000333142:H339Q;ENSP00000335149:H339Q;ENSP00000386100:H339Q|.	ENSP00000333142:H339Q|.	H|T	-|-	3|2	2|0	PLA2G6|PLA2G6	36858844|36858844	0.610000|0.610000	0.26983|0.26983	0.941000|0.941000	0.38009|0.38009	0.883000|0.883000	0.51084|0.51084	-0.244000|-0.244000	0.08903|0.08903	0.229000|0.229000	0.21039|0.21039	-0.266000|-0.266000	0.10368|0.10368	CAC|ACG			0.706	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321860.1		NM_001004426	
TCF20	6942	bcgsc.ca;mdanderson.org	37	22	42606966	42606966	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr22:42606966G>T	ENST00000359486.3	-	1	4482	c.4346C>A	c.(4345-4347)aCa>aAa	p.T1449K	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.T1449K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCTGCATGTGTCTCTGTCTT	0.522																																					p.T1449K													.	TCF20	164		0			c.C4346A												137.0	131.0	133.0					22																	42606966		2203	4300	6503	SO:0001583	missense	6942	exon1			GCATGTGTCTCTG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4346C>A	22.37:g.42606966G>T	ENSP00000352463:p.Thr1449Lys		90	0.0111111111	1		71	0.07	5	NM_181492	33	0.00	0	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073289	0.20147	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.58797	0.31;0.31	5.8	4.79	0.61399	.	0.157268	0.44902	D	0.000403	T	0.41971	0.1182	N	0.24115	0.695	0.20307	N	0.999914	B;B	0.20459	0.045;0.026	B;B	0.21151	0.033;0.015	T	0.35968	-0.9767	10	0.52906	T	0.07	-0.0036	8.9215	0.35615	0.2701:0.0:0.7299:0.0	.	1449;1449	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1449	ENSP00000352463:T1449K;ENSP00000335561:T1449K	ENSP00000335561:T1449K	T	-	2	0	TCF20	40936910	0.001000	0.12720	0.758000	0.31321	0.939000	0.58152	0.380000	0.20602	1.471000	0.48121	0.655000	0.94253	ACA			0.522	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320531.1		NM_181492	
NAT6	24142	mdanderson.org	37	3	50334945	50334945	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr3:50334945G>T	ENST00000443842.1	-	0	757				HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000417393.1_De_novo_Start_InFrame|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_De_novo_Start_InFrame|NAT6_ENST00000354862.4_Missense_Mutation_p.L6M			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)							cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAGGGCTCAGAGTCAGCTCT	0.607																																					p.L6M													.	.			0			c.C16A												54.0	56.0	55.0					3																	50334945		2128	4245	6373			24142	exon2			GGCTCAGAGTCAG	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939		3.37:g.50334945G>T			73	0	0		44	0.07	3	NM_012191	30	0.00	0	Q93014	Missense_Mutation	SNP	ENST00000443842.1	37	CCDS56258.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488651	0.64074	.	.	ENSG00000243477	ENST00000354862	.	.	.	4.38	3.5	0.40072	.	.	.	.	.	T	0.75369	0.3840	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.76710	-0.2859	7	0.87932	D	0	-12.4658	8.6647	0.34114	0.1104:0.0:0.8896:0.0	.	6	Q93015-2	.	M	6	.	ENSP00000346927:L6M	L	-	1	2	NAT6	50309949	0.937000	0.31787	0.989000	0.46669	0.937000	0.57800	1.495000	0.35627	1.148000	0.42385	0.561000	0.74099	CTG			0.607	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000346681.1		NM_012191	
CHST2	9435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	142839860	142839860	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr3:142839860C>T	ENST00000309575.3	+	2	1586	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	68					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCTGCTGGTGCTCACTATGCT	0.682																																					p.L68F													.	.			0			c.C202T												26.0	17.0	20.0					3																	142839860		2176	4262	6438	SO:0001583	missense	9435	exon2			CTGGTGCTCACTA	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.202C>T	3.37:g.142839860C>T	ENSP00000307911:p.Leu68Phe		76	0	0		95	0.17	16	NM_004267	11	0.18	2	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291132	0.23564	.	.	ENSG00000175040	ENST00000309575	D	0.98717	-5.09	3.91	3.91	0.45181	.	0.090379	0.45126	U	0.000385	D	0.96297	0.8792	L	0.29908	0.895	0.49213	D	0.999766	B	0.17852	0.024	B	0.15870	0.014	D	0.94741	0.7919	10	0.87932	D	0	-11.9271	15.6779	0.77341	0.0:1.0:0.0:0.0	.	68	Q9Y4C5	CHST2_HUMAN	F	68	ENSP00000307911:L68F	ENSP00000307911:L68F	L	+	1	0	CHST2	144322550	0.349000	0.24870	1.000000	0.80357	0.014000	0.08584	0.349000	0.20055	1.988000	0.58038	0.462000	0.41574	CTC			0.682	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354850.1		NM_004267	
BMP2K	55589	mdanderson.org	37	4	79792166	79792166	+	Missense_Mutation	SNP	C	C	G	rs202184856|rs200441916	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr4:79792166C>G	ENST00000335016.5	+	11	1627	c.1461C>G	c.(1459-1461)caC>caG	p.H487Q	BMP2K_ENST00000502871.1_Missense_Mutation_p.H487Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	487	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcaccaccaccacc	0.502													c|||	68	0.0135783	0.0416	0.0043	5008	,	,		11259	0.001		0.007	False		,,,				2504	0.002				p.H487Q													BMP2K_ENST00000502871,caecum,carcinoma,0,4	BMP2K_ENST00000502871	0	4	0			c.C1461G							-	GLN/HIS,GLN/HIS	12,4302		0,12,2145	20.0	24.0	23.0		1461,1461		0.1	4		23	2,8424		0,2,4211	no	missense,missense	BMP2K	NM_017593.3,NM_198892.1	24,24	0,14,6356	GG,GC,CC		0.0237,0.2782,0.1099	possibly-damaging,possibly-damaging	487/663,487/1162	79792166	14,12726	2157	4213	6370	SO:0001583	missense	55589	exon11			GCAGCACCACCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1461C>G	4.37:g.79792166C>G	ENSP00000334836:p.His487Gln		24	0	0		11	0.18	2	NM_017593	10	0.00	0	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.755|0.755	-0.771272|-0.771272	0.02951|0.02951	0.002782|0.002782	2.37E-4|2.37E-4	ENSG00000138756|ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889|ENST00000502613	T;T|.	0.71341|.	1.16;-0.56|.	.|.	.|.	.|.	.|.	3.253760|.	0.01410|.	N|.	0.013962|.	T|T	0.14874|0.14874	0.0359|0.0359	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.39094|.	0.659;0.404|.	B;B|.	0.18263|.	0.021;0.021|.	T|T	0.24119|0.24119	-1.0169|-1.0169	9|4	0.10902|.	T|.	0.67|.	.|.	3.2348|3.2348	0.06761|0.06761	0.4658:0.5342:0.0:0.0|0.4658:0.5342:0.0:0.0	.|.	487;487|.	Q9NSY1;Q4W5H2|.	BMP2K_HUMAN;.|.	Q|A	487;487;501|180	ENSP00000421768:H487Q;ENSP00000334836:H487Q|.	ENSP00000264889:H501Q|.	H|P	+|+	3|1	2|0	BMP2K|BMP2K	80011190|80011190	0.000000|0.000000	0.05858|0.05858	0.126000|0.126000	0.21872|0.21872	0.030000|0.030000	0.12068|0.12068	-1.617000|-1.617000	0.02051|0.02051	0.372000|0.372000	0.24591|0.24591	0.377000|0.377000	0.23210|0.23210	CAC|CCA			0.502	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_017593	
LRBA	987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	151829586	151829586	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr4:151829586T>G	ENST00000357115.3	-	11	1636	c.1393A>C	c.(1393-1395)Agt>Cgt	p.S465R	LRBA_ENST00000535741.1_Missense_Mutation_p.S465R|LRBA_ENST00000507224.1_Missense_Mutation_p.S465R|LRBA_ENST00000510413.1_Missense_Mutation_p.S465R	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	465						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCATTGCACTTTGGATGGAA	0.323																																					p.S465R													.	.			0			c.A1393C												113.0	105.0	107.0					4																	151829586		2203	4300	6503	SO:0001583	missense	987	exon11			TTGCACTTTGGAT	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1393A>C	4.37:g.151829586T>G	ENSP00000349629:p.Ser465Arg		245	0	0		219	0.33	73	NM_006726	5	0.60	3	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575320	0.86645	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.986;0.995;0.997	T	0.63616	-0.6597	10	0.35671	T	0.21	.	16.1358	0.81487	0.0:0.0:0.0:1.0	.	465;465;465	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	R	465	ENSP00000446299:S465R;ENSP00000421552:S465R;ENSP00000349629:S465R;ENSP00000422180:S465R	ENSP00000349629:S465R	S	-	1	0	LRBA	152049036	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.993000	0.88291	2.261000	0.74972	0.460000	0.39030	AGT			0.323	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000364939.1			
TENM3	55714	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	183609373	183609373	+	Missense_Mutation	SNP	G	G	A	rs147392905	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr4:183609373G>A	ENST00000511685.1	+	12	2213	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R697H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	697	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGACGTGTCGCTGTGAAGAA	0.592													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		14740	0.0		0.0	False		,,,				2504	0.0				p.R697H													.	.			0			c.G2090A							G	HIS/ARG	12,3986		0,12,1987	97.0	106.0	103.0		2090	5.2	1.0	4	dbSNP_134	103	0,8356		0,0,4178	yes	missense	ODZ3	NM_001080477.1	29	0,12,6165	AA,AG,GG		0.0,0.3002,0.0971	benign	697/2700	183609373	12,12342	1999	4178	6177	SO:0001583	missense	55714	exon11			CGTGTCGCTGTGA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2090G>A	4.37:g.183609373G>A	ENSP00000424226:p.Arg697His		84	0	0		70	0.33	23	NM_001080477	6	1.00	6	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	G	12.70	2.017389	0.35606	0.003002	0.0	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.03272	3.99;3.99	5.17	5.17	0.71159	Epidermal growth factor-like (1);EGF-like region, conserved site (2);	.	.	.	.	T	0.08891	0.0220	L	0.45137	1.4	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.01524	-1.1333	9	0.45353	T	0.12	.	18.8567	0.92255	0.0:0.0:1.0:0.0	.	697	Q9P273	TEN3_HUMAN	H	697	ENSP00000424226:R697H;ENSP00000385276:R697H	ENSP00000385276:R697H	R	+	2	0	ODZ3	183846367	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	5.238000	0.65366	2.696000	0.92011	0.650000	0.86243	CGC	0.001		0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361734.1			
PCDHB4	56131	broad.mit.edu	37	5	140502496	140502496	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr5:140502496T>A	ENST00000194152.1	+	1	916	c.916T>A	c.(916-918)Ttg>Atg	p.L306M	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L306M(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAAAAAAATTGGATTTCGA	0.373																																					p.L306M													PCDHB4,colon,carcinoma,-1,2	PCDHB4	177	2	1	Substitution - Missense(1)	large_intestine(1)	c.T916A												95.0	112.0	106.0					5																	140502496		2201	4300	6501	SO:0001583	missense	0	exon1			AAAAAATTGGATT	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.916T>A	5.37:g.140502496T>A	ENSP00000194152:p.Leu306Met		125	0	0		103	0.04	4	NM_018938	0		0	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913151	0.33815	.	.	ENSG00000081818	ENST00000194152	T	0.74842	-0.88	4.41	-0.985	0.10256	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85725	0.5763	M	0.93854	3.465	0.22017	N	0.999411	D	0.89917	1.0	D	0.91635	0.999	T	0.72187	-0.4366	9	0.66056	D	0.02	.	2.9602	0.05890	0.1209:0.3848:0.1239:0.3705	.	306	Q9Y5E5	PCDB4_HUMAN	M	306	ENSP00000194152:L306M	ENSP00000194152:L306M	L	+	1	2	PCDHB4	140482680	0.000000	0.05858	0.691000	0.30163	0.889000	0.51656	-2.344000	0.01098	0.037000	0.15575	0.528000	0.53228	TTG			0.373	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251812.2		NM_018938	
ECI2	10455	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	4133832	4133832	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr6:4133832T>C	ENST00000380118.3	-	2	200	c.164A>G	c.(163-165)aAg>aGg	p.K55R	RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000361538.2_Missense_Mutation_p.K25R|ECI2_ENST00000413766.2_5'UTR|RP3-400B16.1_ENST00000427049.2_lincRNA|ECI2_ENST00000380125.2_Missense_Mutation_p.K25R|ECI2_ENST00000465828.1_Missense_Mutation_p.K25R			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	55	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TCCTGGATCCTTTTTCAAGAG	0.398																																					p.K55R													ECI2_ENST00000380118,NS,malignant_melanoma,0,2	ECI2	59	2	0			c.A164G												217.0	201.0	206.0					6																	4133832		2203	4300	6503	SO:0001583	missense	10455	exon2			GGATCCTTTTTCA	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.164A>G	6.37:g.4133832T>C	ENSP00000369461:p.Lys55Arg		134	0	0		184	0.04	7	NM_206836	60	0.00	0	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191753	0.78902	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.98	5.98	0.97165	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	21.516500	0.00166	N	0.000000	T	0.31796	0.0808	M	0.78223	2.4	0.80722	D	1	B	0.20988	0.05	B	0.35899	0.213	T	0.34850	-0.9812	10	0.54805	T	0.06	.	14.4143	0.67139	0.0:0.0:0.0:1.0	.	55	O75521	ECI2_HUMAN	R	55;25;25;25;102	ENSP00000369461:K55R;ENSP00000369468:K25R;ENSP00000354737:K25R;ENSP00000420309:K25R;ENSP00000417459:K102R	ENSP00000354737:K25R	K	-	2	0	ECI2	4078831	0.659000	0.27411	0.999000	0.59377	0.997000	0.91878	3.003000	0.49505	2.289000	0.77006	0.533000	0.62120	AAG			0.398	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039716.4		NM_006117	
VWA7	80737	broad.mit.edu	37	6	31733784	31733784	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr6:31733784A>C	ENST00000375688.4	-	16	2575	c.2375T>G	c.(2374-2376)gTc>gGc	p.V792G	VWA7_ENST00000375686.3_Missense_Mutation_p.V792G|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'Flank			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	792						extracellular region (GO:0005576)											TGAATCTGGGACCTCCAGCCA	0.627																																					p.V792G													.	.			0			c.T2375G												89.0	113.0	104.0					6																	31733784		1508	2707	4215	SO:0001583	missense	80737	exon16			TCTGGGACCTCCA		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2375T>G	6.37:g.31733784A>C	ENSP00000364840:p.Val792Gly		84	0.380952381	32		121	0.27	33	NM_025258	2	0.50	1	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333629	0.81801	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.18016	2.46;2.24	4.75	4.75	0.60458	.	0.415822	0.21513	N	0.073344	T	0.13372	0.0324	L	0.32530	0.975	0.80722	D	1	P	0.51791	0.948	P	0.55577	0.779	T	0.02378	-1.1168	10	0.38643	T	0.18	-19.5948	10.8128	0.46557	1.0:0.0:0.0:0.0	.	792	Q9Y334	G7C_HUMAN	G	792	ENSP00000364840:V792G;ENSP00000364838:V792G	ENSP00000364838:V792G	V	-	2	0	C6orf27	31841763	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.046000	0.57376	2.125000	0.65367	0.460000	0.39030	GTC			0.627	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076233.2		NM_025258	
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	32023843	32023843	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr6:32023843G>A	ENST00000375244.3	-	24	8453	c.8252C>T	c.(8251-8253)tCg>tTg	p.S2751L	TNXB_ENST00000375247.2_Missense_Mutation_p.S2751L			P22105	TENX_HUMAN	tenascin XB	2809	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGCTCAGCGAGTCAGGGGA	0.677																																					p.S2751L													.	.			0			c.C8252T												58.0	65.0	63.0					6																	32023843		1259	2538	3797	SO:0001583	missense	7148	exon24			CTCAGCGAGTCAG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8252C>T	6.37:g.32023843G>A	ENSP00000364393:p.Ser2751Leu		67	0	0		77	0.25	19	NM_019105	5	0.60	3	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	19.73	3.881711	0.72294	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.63417	-0.04;-0.04	5.0	5.0	0.66597	.	.	.	.	.	T	0.77922	0.4203	M	0.91459	3.21	0.22926	N	0.998555	D	0.89917	1.0	D	0.91635	0.999	T	0.72181	-0.4368	9	0.72032	D	0.01	.	12.9561	0.58427	0.0:0.1635:0.8365:0.0	.	2751	P22105-3	.	L	2751	ENSP00000364393:S2751L;ENSP00000364396:S2751L	ENSP00000364393:S2751L	S	-	2	0	TNXB	32131821	0.998000	0.40836	0.892000	0.35008	0.869000	0.49853	4.024000	0.57218	2.317000	0.78254	0.456000	0.33151	TCG			0.677	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000268927.2		NM_019105	
FNDC1	84624	mdanderson.org	37	6	159653813	159653813	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr6:159653813G>T	ENST00000297267.9	+	11	2469	c.2269G>T	c.(2269-2271)Gcg>Tcg	p.A757S	FNDC1_ENST00000340366.6_Missense_Mutation_p.A694S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	757	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAACTCCAATGCGCCATCACG	0.622																																					p.A757S													FNDC1,NS,carcinoma,-2,1	FNDC1	-2	1	0			c.G2269T												43.0	47.0	45.0					6																	159653813		2151	4253	6404	SO:0001583	missense	84624	exon11			TCCAATGCGCCAT	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2269G>T	6.37:g.159653813G>T	ENSP00000297267:p.Ala757Ser		87	0	0		62	0.06	4	NM_032532	8	0.00	0	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.760|6.760	0.509055|0.509055	0.12883|0.12883	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.08102|.	3.13;3.91|.	4.72|4.72	-2.15|-2.15	0.07102|0.07102	.|.	2.138480|.	0.01384|.	N|.	0.013028|.	T|T	0.07593|0.07593	0.0191|0.0191	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.0|.	T|T	0.36065|0.36065	-0.9763|-0.9763	10|5	0.20519|.	T|.	0.43|.	-0.8234|-0.8234	3.949|3.949	0.09361|0.09361	0.4105:0.0:0.3293:0.2602|0.4105:0.0:0.3293:0.2602	.|.	694;757|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	S|F	757;694|652	ENSP00000297267:A757S;ENSP00000342460:A694S|.	ENSP00000297267:A757S|.	A|C	+|+	1|2	0|0	FNDC1|FNDC1	159573803|159573803	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.158000|-0.158000	0.10070|0.10070	-0.162000|-0.162000	0.10964|0.10964	-0.152000|-0.152000	0.13540|0.13540	GCG|TGC			0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042897.3		NM_032532	
SCIN	85477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	12644158	12644158	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr7:12644158G>C	ENST00000297029.5	+	4	637	c.536G>C	c.(535-537)gGt>gCt	p.G179A	SCIN_ENST00000445618.2_5'UTR|SCIN_ENST00000519209.1_5'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	179	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGTGGTGTGGTTCCTCGTGC	0.403																																					p.G179A													.	.			0			c.G536C												229.0	186.0	199.0					7																	12644158		692	1591	2283	SO:0001583	missense	85477	exon4			GGTGTGGTTCCTC	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.536G>C	7.37:g.12644158G>C	ENSP00000297029:p.Gly179Ala		97	0	0		138	0.16	22	NM_001112706	0		0	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632218	0.87660	.	.	ENSG00000006747	ENST00000297029;ENST00000523729;ENST00000518849	D;D;D	0.96522	-4.04;-1.7;-1.7	5.46	5.46	0.80206	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	H	0.97265	3.97	0.80722	D	1	P	0.48998	0.918	P	0.54312	0.748	D	0.99391	1.0925	10	0.66056	D	0.02	-18.4111	19.6796	0.95957	0.0:0.0:1.0:0.0	.	179	Q9Y6U3	ADSV_HUMAN	A	179;20;20	ENSP00000297029:G179A;ENSP00000429598:G20A;ENSP00000428555:G20A	ENSP00000297029:G179A	G	+	2	0	SCIN	12610683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.064000	0.93933	2.733000	0.93635	0.591000	0.81541	GGT			0.403	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326041.1		NM_033128	
YKT6	10652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	44240804	44240804	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr7:44240804G>A	ENST00000223369.2	+	1	157	c.70G>A	c.(70-72)Gat>Aat	p.D24N	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Missense_Mutation_p.D24N	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	24	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						AGCCGCATACGATGTGTCTTC	0.657																																					p.D24N													.	.			0			c.G70A												57.0	38.0	45.0					7																	44240804		2203	4300	6503	SO:0001583	missense	10652	exon1			GCATACGATGTGT	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.70G>A	7.37:g.44240804G>A	ENSP00000223369:p.Asp24Asn		167	0	0		230	0.23	54	NM_006555	186	0.26	48	B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	ENST00000223369.2	37	CCDS5482.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693665	0.88735	.	.	ENSG00000106636	ENST00000496112;ENST00000223369	T	0.24151	1.87	3.7	2.82	0.32997	Longin (2);Longin-like (1);	0.049544	0.85682	D	0.000000	T	0.34395	0.0896	M	0.71036	2.16	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.49332	0.607;0.503	T	0.21621	-1.0240	10	0.62326	D	0.03	-3.413	10.205	0.43107	0.1024:0.0:0.8976:0.0	.	24;24	B4DR94;O15498	.;YKT6_HUMAN	N	24	ENSP00000223369:D24N	ENSP00000223369:D24N	D	+	1	0	YKT6	44207329	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.622000	0.90953	0.901000	0.36495	0.561000	0.74099	GAT			0.657	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251125.2		NM_006555	
AC073325.1	0	broad.mit.edu	37	7	45573979	45573979	+	lincRNA	DEL	A	A	-	rs79771091		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr7:45573979delA	ENST00000443714.1	+	0	359																											GATTCAAAGCAAAAAAAATTA	0.383																																					.													.	.			0			.																																											0	.			CAAAGCAAAAAAA																													7.37:g.45573979delA			7	0	0		6	0.33	2	.	0		0		RNA	DEL	ENST00000443714.1	37																																																																																						0.383	AC073325.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000340035.1			
OR2A2	442361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	143806941	143806941	+	Missense_Mutation	SNP	G	G	C	rs139387901		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr7:143806941G>C	ENST00000408979.2	+	1	335	c.266G>C	c.(265-267)aGa>aCa	p.R89T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R89K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AACCAGAAAAGAACCATCTCC	0.418																																					p.R89T													OR2A2,upper_arm,malignant_melanoma,0,1	OR2A2	0	1	1	Substitution - Missense(1)	skin(1)	c.G266C												243.0	227.0	232.0					7																	143806941		2040	4218	6258	SO:0001583	missense	442361	exon1			AGAAAAGAACCAT		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.266G>C	7.37:g.143806941G>C	ENSP00000386209:p.Arg89Thr		226	0	0		245	0.17	42	NM_001005480	0		0	B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	2.638	-0.284738	0.05605	.	.	ENSG00000221989	ENST00000408979	T	0.37752	1.18	3.61	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28034	0.0691	L	0.48986	1.54	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.34925	-0.9809	9	0.72032	D	0.01	-0.5461	4.6715	0.12691	0.5455:0.1803:0.2742:0.0	.	89	Q6IF42	OR2A2_HUMAN	T	89	ENSP00000386209:R89T	ENSP00000386209:R89T	R	+	2	0	OR2A2	143437874	0.000000	0.05858	0.084000	0.20598	0.060000	0.15804	-2.504000	0.00964	-0.243000	0.09653	0.609000	0.83330	AGA			0.418	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349978.1			
CSMD1	64478	broad.mit.edu	37	8	3015436	3015436	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:3015436G>T	ENST00000520002.1	-	40	6455	c.5900C>A	c.(5899-5901)cCg>cAg	p.P1967Q	CSMD1_ENST00000602557.1_Missense_Mutation_p.P1967Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1966Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1966Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1967Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1967Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1966Q|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1967	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGGGAGACGGATAGTTCCA	0.468																																					p.P1966Q													CSMD1_ENST00000537824,NS,carcinoma,0,2	CSMD1	1469	2	0			c.C5897A												51.0	51.0	51.0					8																	3015436		1977	4107	6084	SO:0001583	missense	64478	exon39			GGAGACGGATAGT			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5900C>A	8.37:g.3015436G>T	ENSP00000430733:p.Pro1967Gln		329	0	0		315	0.02	5	NM_033225	1	0.00	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	17.61	3.432116	0.62844	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.82958	0.5150	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.97110	1.0;1.0;1.0;0.985	D	0.84894	0.0838	10	0.87932	D	0	.	18.8861	0.92378	0.0:0.0:1.0:0.0	.	1967;1967;1966;1967	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	Q	1967;1967;1828;1966;1966;1966	ENSP00000383047:P1967Q;ENSP00000430733:P1967Q;ENSP00000441462:P1966Q;ENSP00000446243:P1966Q;ENSP00000441675:P1966Q	ENSP00000320445:P1828Q	P	-	2	0	CSMD1	3002843	1.000000	0.71417	0.948000	0.38648	0.039000	0.13416	9.150000	0.94667	2.538000	0.85594	0.655000	0.94253	CCG			0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225	
RP1L1	94137	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	10464479	10464479	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:10464479C>T	ENST00000382483.3	-	4	7352	c.7129G>A	c.(7129-7131)Gca>Aca	p.A2377T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2457					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCCGAGTGCCTGGTCCTCT	0.532																																					p.A2377T													.	RP1L1	453		0			c.G7129A												109.0	114.0	113.0					8																	10464479		1919	4116	6035	SO:0001583	missense	94137	exon4			CGAGTGCCTGGTC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7129G>A	8.37:g.10464479C>T	ENSP00000371923:p.Ala2377Thr		94	0.0106382979	1		79	0.16	13	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	2.280	-0.364847	0.05103	.	.	ENSG00000183638	ENST00000382483	T	0.04049	3.72	4.29	-4.66	0.03329	.	3.426740	0.01241	U	0.008606	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41910	-0.9482	10	0.59425	D	0.04	5.5018	0.7975	0.01069	0.3127:0.2676:0.1007:0.3189	.	2377	A6NKC6	.	T	2377	ENSP00000371923:A2377T	ENSP00000371923:A2377T	A	-	1	0	RP1L1	10501889	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.465000	0.02357	-0.764000	0.04651	-2.005000	0.00442	GCA			0.532	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1			
STC1	6781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	23702390	23702398	+	In_Frame_Del	DEL	TGTTGAAGT	TGTTGAAGT	-			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	TGTTGAAGT	TGTTGAAGT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:23702390_23702398delTGTTGAAGT	ENST00000290271.2	-	4	912_920	c.629_637delACTTCAACA	c.(628-639)gacttcaacagg>ggg	p.210_213DFNR>G	STC1_ENST00000524323.1_In_Frame_Del_p.141_144DFNR>G	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	210					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.N212S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTGCGTCTCCTGTTGAAGTCAGCTCGTGG	0.55																																					p.210_213del													.	STC1	49		1	Substitution - Missense(1)	prostate(1)	c.630_638del																																									SO:0001651	inframe_deletion	6781	exon4			GTCTCCTGTTGAA		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.629_637delACTTCAACA	8.37:g.23702390_23702398delTGTTGAAGT	ENSP00000290271:p.Asp210_Arg213delinsGly		230	0	0		183	0.00	0	NM_003155	11	0.00	0	B4DN22|Q71UE5	In_Frame_Del	DEL	ENST00000290271.2	37	CCDS6043.1																																																																																					0.550	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215143.1			
STC1	6781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	23702401	23702406	+	In_Frame_Del	DEL	GCTCGT	GCTCGT	-			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	GCTCGT	GCTCGT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:23702401_23702406delGCTCGT	ENST00000290271.2	-	4	904_909	c.621_626delACGAGC	c.(619-627)ccacgagct>cct	p.RA208del	STC1_ENST00000524323.1_In_Frame_Del_p.RA139del	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	208					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTTGAAGTCAGCTCGTGGGTGTGTTT	0.553																																					p.208_209del													.	STC1	49		0			c.622_627del																																									SO:0001651	inframe_deletion	6781	exon4			AAGTCAGCTCGTG		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.621_626delACGAGC	8.37:g.23702401_23702406delGCTCGT	ENSP00000290271:p.Arg208_Ala209del		228	0	0		182	0.12	21	NM_003155	12	0.00	0	B4DN22|Q71UE5	In_Frame_Del	DEL	ENST00000290271.2	37	CCDS6043.1																																																																																					0.553	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215143.1			
VPS13B	157680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	100479794	100479794	+	Missense_Mutation	SNP	C	C	G	rs140353201		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:100479794C>G	ENST00000358544.2	+	24	3709	c.3598C>G	c.(3598-3600)Cga>Gga	p.R1200G	VPS13B_ENST00000395996.1_Missense_Mutation_p.R1200G|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1200G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1200					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCTGATACACGACATTCATT	0.423																																					p.R1200G	Colon(161;2205 2542 7338 31318)												.	.			0			c.C3598G												200.0	171.0	181.0					8																	100479794		2203	4300	6503	SO:0001583	missense	157680	exon24			GATACACGACATT	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3598C>G	8.37:g.100479794C>G	ENSP00000351346:p.Arg1200Gly		168	0	0		190	0.15	29	NM_152564	3	0.33	1	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	4.734	0.136576	0.09032	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.46063	0.88;0.88;0.88	5.62	4.49	0.54785	.	0.104626	0.64402	D	0.000005	T	0.31231	0.0790	L	0.37630	1.12	0.34973	D	0.753311	B;B;B;B	0.18610	0.013;0.014;0.003;0.029	B;B;B;B	0.19666	0.016;0.026;0.003;0.024	T	0.32771	-0.9894	10	0.45353	T	0.12	.	7.2626	0.26212	0.7566:0.1677:0.0757:0.0	.	1199;1200;1200;1200	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	G	1200	ENSP00000349685:R1200G;ENSP00000351346:R1200G;ENSP00000379318:R1200G	ENSP00000349685:R1200G	R	+	1	2	VPS13B	100548970	0.943000	0.32029	0.380000	0.26093	0.966000	0.64601	2.179000	0.42528	0.988000	0.38734	0.561000	0.74099	CGA			0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277138.1		NM_184042	
SLC52A2	79581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	145583775	145583775	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:145583775C>A	ENST00000532887.1	+	3	1206	c.623C>A	c.(622-624)gCt>gAt	p.A208D	SLC52A2_ENST00000526752.1_Intron|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A208D|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A208D|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A208D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A208D|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A120D|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	208					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GTCGCTTCAGCTGCTGCCTTC	0.642																																					p.A208D													.	.			0			c.C623A												59.0	60.0	60.0					8																	145583775		2203	4298	6501	SO:0001583	missense	79581	exon3			CTTCAGCTGCTGC	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.623C>A	8.37:g.145583775C>A	ENSP00000436768:p.Ala208Asp		63	0	0		115	0.25	29	NM_024531	184	0.28	51	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396870	0.42512	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.76;-0.96;-0.96;-0.96;-0.74	4.49	3.61	0.41365	.	0.180800	0.46758	D	0.000270	T	0.73745	0.3626	N	0.19112	0.55	0.39942	D	0.974429	D	0.89917	1.0	D	0.85130	0.997	T	0.71543	-0.4561	9	.	.	.	.	10.238	0.43294	0.0:0.9005:0.0:0.0995	.	208	Q9HAB3	RFT3_HUMAN	D	208;208;44;208;208;208;120	ENSP00000435820:A208D;ENSP00000434728:A208D;ENSP00000433583:A44D;ENSP00000385961:A208D;ENSP00000436768:A208D;ENSP00000333638:A208D;ENSP00000440400:A120D	.	A	+	2	0	GPR172A	145554583	0.970000	0.33590	0.483000	0.27378	0.384000	0.30261	3.020000	0.49643	0.885000	0.36088	0.462000	0.41574	GCT			0.642	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382405.1		NM_024531	
KIAA2026	158358	mdanderson.org	37	9	6007725	6007725	+	Silent	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:6007725C>T	ENST00000399933.3	-	1	62	c.63G>A	c.(61-63)ccG>ccA	p.P21P	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Silent_p.P21P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	21										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTCGGCCGCCGGTGGCGGCC	0.746																																					p.P21P													.	.			0			c.G63A												6.0	7.0	7.0					9																	6007725		1235	3101	4336	SO:0001819	synonymous_variant	158358	exon1			GGCCGCCGGTGGC	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.63G>A	9.37:g.6007725C>T			50	0	0		58	0.05	3	NM_001017969	2	0.00	0	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37																																																																																						0.746	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000051652.2		NM_001017969	
PRSS3	5646	hgsc.bcm.edu	37	9	33797828	33797828	+	Splice_Site	SNP	C	C	T	rs143209949		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:33797828C>T	ENST00000361005.5	+	3	373	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PRSS3_ENST00000429677.3_Splice_Site_p.R61C|PRSS3_ENST00000379405.3_Splice_Site_p.R68C|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Splice_Site_p.R82C	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCCCATCAGCCGCATCCAGGT	0.577													c|||	1	0.000199681	0.0	0.0	5008	,	,		21123	0.0		0.001	False		,,,				2504	0.0				p.R125C													PRSS3_ENST00000361005,NS,carcinoma,-1,2	PRSS3_ENST00000361005	-1	2	0			c.C373T												106.0	97.0	100.0					9																	33797828		2203	4300	6503	SO:0001630	splice_region_variant	5646	exon3			ATCAGCCGCATCC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.372-1C>T	9.37:g.33797828C>T			121	0.0082644628	1		103	0.06	6	NM_007343	0		0	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045597	0.36085	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	3.38	2.48	0.30137	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.193106	0.56097	D	0.000021	D	0.89729	0.6799	L	0.55213	1.73	0.51233	D	0.999918	D;D;D	0.76494	0.986;0.999;0.986	P;P;P	0.62885	0.765;0.908;0.701	D	0.87067	0.2157	10	0.66056	D	0.02	.	4.6046	0.12371	0.214:0.6633:0.0:0.1227	.	68;125;82	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	C	125;80;82;61;68	ENSP00000354280:R125C;ENSP00000401249:R80C;ENSP00000340889:R82C;ENSP00000401828:R61C;ENSP00000368715:R68C	ENSP00000340889:R82C	R	+	1	0	PRSS3	33787828	0.896000	0.30565	0.865000	0.33974	0.073000	0.16967	1.513000	0.35823	0.551000	0.29008	-0.643000	0.03959	CGC	0.001		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052121.1		NM_002771	Missense_Mutation
RECK	8434	bcgsc.ca	37	9	36037093	36037093	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:36037093C>T	ENST00000377966.3	+	1	664	c.98C>T	c.(97-99)gCg>gTg	p.A33V	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	33					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CCGGGCAGTGCGGGTGAGTAA	0.741																																					p.A33V													.	RECK	73		0			c.C98T												4.0	7.0	6.0					9																	36037093		1507	2989	4496	SO:0001583	missense	8434	exon1			GCAGTGCGGGTGA	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.98C>T	9.37:g.36037093C>T	ENSP00000367202:p.Ala33Val		24	0	0		22	0.18	4	NM_021111	18	0.00	0	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976528	0.18736	.	.	ENSG00000122707	ENST00000377966	T	0.42900	0.96	4.49	1.42	0.22433	.	1.144190	0.06485	N	0.733624	T	0.23572	0.0570	N	0.08118	0	0.25954	N	0.982714	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.25187	-1.0139	10	0.59425	D	0.04	4.5671	5.7509	0.18146	0.0:0.6095:0.0:0.3905	.	33;33;33	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	V	33	ENSP00000367202:A33V	ENSP00000367202:A33V	A	+	2	0	RECK	36027093	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	1.902000	0.39848	0.207000	0.20607	0.650000	0.86243	GCG			0.741	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052409.1			
TOR1B	27348	mdanderson.org	37	9	132565665	132565665	+	Silent	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:132565665C>T	ENST00000259339.2	+	1	234	c.174C>T	c.(172-174)cgC>cgT	p.R58R	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	58					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				AGTGCTGCCGCGAGGAGCGGC	0.746																																					p.R58R													.	.			0			c.C174T												13.0	14.0	14.0					9																	132565665		1928	3803	5731	SO:0001819	synonymous_variant	27348	exon1			CTGCCGCGAGGAG	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.174C>T	9.37:g.132565665C>T			25	0	0		20	0.15	3	NM_014506	20	0.00	0		Silent	SNP	ENST00000259339.2	37	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	C	4.772	0.143517	0.09134	.	.	ENSG00000136816	ENST00000427860	.	.	.	5.15	-0.206	0.13193	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	T	0.28267	-1.0049	4	.	.	.	.	7.1905	0.25822	0.0:0.4461:0.4021:0.1518	.	.	.	.	V	40	.	.	A	+	2	0	TOR1B	131605486	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.052000	0.14163	-0.332000	0.08489	-1.001000	0.02504	GCG			0.746	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054615.1		NM_014506	
ABL1	25	mdanderson.org	37	9	133759942	133759942	+	Silent	SNP	C	C	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:133759942C>T	ENST00000318560.5	+	11	2646	c.2265C>T	c.(2263-2265)caC>caT	p.H755H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	755					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TTGGAGGGCACAAAAGTGAGA	0.607			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.H774H				Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	.			0			c.C2322T												35.0	36.0	36.0					9																	133759942		2203	4300	6503	SO:0001819	synonymous_variant	25	exon11			AGGGCACAAAAGT	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2265C>T	9.37:g.133759942C>T			72	0	0		39	0.08	3	NM_007313	35	0.00	0	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																					0.607	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054684.1		NM_007313	
CCDC183	84960	mdanderson.org	37	9	139700593	139700593	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:139700593G>T	ENST00000338005.6	+	10	1047	c.1012G>T	c.(1012-1014)Gac>Tac	p.D338Y	RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000357466.2_5'Flank|KIAA1984_ENST00000371682.3_3'UTR|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000311502.7_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		338										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCAGATGGAGGACTGTGAGGA	0.637																																					p.D338Y													.	.			0			c.G1012T												29.0	40.0	37.0					9																	139700593		2073	4207	6280	SO:0001583	missense	84960	exon10			ATGGAGGACTGTG																												ENST00000338005.6:c.1012G>T	9.37:g.139700593G>T	ENSP00000338013:p.Asp338Tyr		52	0	0		42	0.07	3	NM_001039374	2	0.00	0	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056166	0.76074	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.14391	2.51	5.07	5.07	0.68467	.	0.460071	0.16849	U	0.197001	T	0.27278	0.0669	L	0.59436	1.845	0.80722	D	1	P	0.51537	0.946	P	0.54026	0.74	T	0.00893	-1.1524	10	0.87932	D	0	-18.8372	13.9593	0.64168	0.0:0.0:1.0:0.0	.	338	Q5T5S1	K1984_HUMAN	Y	338	ENSP00000338013:D338Y	ENSP00000338013:D338Y	D	+	1	0	KIAA1984	138820414	0.999000	0.42202	0.985000	0.45067	0.952000	0.60782	6.119000	0.71590	2.339000	0.79563	0.561000	0.74099	GAC			0.637	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354899.1			
FAM104B	90736	mdanderson.org	37	X	55172630	55172630	+	Nonsense_Mutation	SNP	G	G	A	rs113263757		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chrX:55172630G>A	ENST00000358460.4	-	3	388	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	FAM104B_ENST00000425133.2_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.Q78*|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.Q76*|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	79										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TGCAAGAACTGGGGAAAGTTT	0.493																																					p.Q80X													.	.			0			c.C238T												127.0	104.0	112.0					X																	55172630		2203	4300	6503	SO:0001587	stop_gained	90736	exon3			AGAACTGGGGAAA	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.235C>T	X.37:g.55172630G>A	ENSP00000364101:p.Gln79*		35	0	0		32	0.13	4	NM_001166700	58	0.00	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	11.17	1.559418	0.27827	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.6	1.6	0.23607	.	0.325359	0.21941	U	0.066869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.2487	6.0913	0.19995	0.0:0.0:1.0:0.0	.	.	.	.	X	79;80;80;76;78	.	ENSP00000333394:Q80X	Q	-	1	0	FAM104B	55189355	0.905000	0.30787	0.015000	0.15790	0.033000	0.12548	1.600000	0.36762	1.084000	0.41184	0.436000	0.28706	CAG			0.493	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362	
FAM104B	90736	mdanderson.org	37	X	55172645	55172645	+	Missense_Mutation	SNP	C	C	G	rs1047042	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chrX:55172645C>G	ENST00000358460.4	-	3	373	c.220G>C	c.(220-222)Gat>Cat	p.D74H	FAM104B_ENST00000425133.2_Missense_Mutation_p.D75H|FAM104B_ENST00000489298.1_Missense_Mutation_p.D73H|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Missense_Mutation_p.D75H|FAM104B_ENST00000477847.2_Missense_Mutation_p.D71H|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	74				D -> V (in Ref. 1; BAG61768). {ECO:0000305}.						endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AAGTTTGCATCGGGTTCAGTA	0.468													C|||	5	0.0013245	0.0023	0.0	3775	,	,		14416	0.0		0.0	False		,,,				2504	0.002				p.D75H													.	.			0			c.G223C												136.0	110.0	119.0					X																	55172645		2203	4300	6503	SO:0001583	missense	90736	exon3			TTGCATCGGGTTC	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.220G>C	X.37:g.55172645C>G	ENSP00000364101:p.Asp74His		36	0	0		33	0.12	4	NM_001166700	65	0.00	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	3.193	-0.165363	0.06461	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	1.59	-1.04	0.10068	.	0.505297	0.17523	U	0.171170	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B;P;P	0.46859	0.002;0.774;0.885	B;P;B	0.46479	0.001;0.518;0.241	T	0.15065	-1.0450	10	0.56958	D	0.05	-1.547	4.2247	0.10575	0.0:0.4679:0.0:0.5321	.	75;74;75	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	H	74;75;75;71;73	ENSP00000364101:D74H;ENSP00000333394:D75H;ENSP00000397188:D75H;ENSP00000421161:D71H;ENSP00000423164:D73H	ENSP00000333394:D75H	D	-	1	0	FAM104B	55189370	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-0.355000	0.08199	-0.556000	0.04195	GAT			0.468	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362	
ZNF274	10782	mdanderson.org	37	19	58723675	58723675	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:58723675G>T	ENST00000326804.4	+	9	1584	c.1125G>T	c.(1123-1125)caG>caT	p.Q375H	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.Q270H|ZNF274_ENST00000345813.3_Missense_Mutation_p.Q343H	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GTGGGGTCCAGGAAGTCCAAG	0.502																																					.													.	.			0			.												70.0	70.0	70.0					19																	58723675		1960	4143	6103	SO:0001583	missense	10782	.			GGTCCAGGAAGTC	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1125G>T	19.37:g.58723675G>T	ENSP00000321209:p.Gln375His		59	0	0		48	0.06	3	.	30	0.00	0	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37		.	.	.	.	.	.	.	.	.	.	G	12.63	1.996457	0.35226	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07567	3.28;3.18;3.19	5.6	-11.2	0.00127	.	1.321840	0.05561	N	0.569198	T	0.05547	0.0146	.	.	.	0.09310	N	1	P;P;P	0.51791	0.948;0.948;0.913	P;P;B	0.47162	0.54;0.54;0.339	T	0.06935	-1.0799	9	0.21540	T	0.41	-0.8542	4.0537	0.09806	0.5519:0.2135:0.16:0.0746	.	271;344;376	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	H	375;343;270	ENSP00000321209:Q375H;ENSP00000321187:Q343H;ENSP00000409872:Q270H	ENSP00000321209:Q375H	Q	+	3	2	ZNF274	63415487	0.004000	0.15560	0.000000	0.03702	0.113000	0.19764	0.116000	0.15561	-3.058000	0.00257	0.563000	0.77884	CAG			0.502	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_133502	
