#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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	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_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_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
RTKN2	219790	hgsc.bcm.edu;mdanderson.org	37	10	63957976	63957976	+	Silent	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:63957976A>C	ENST00000373789.3	-	12	1617	c.1521T>G	c.(1519-1521)ccT>ccG	p.P507P	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	507					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TATCAGAAGGAGGAAGGGGAG	0.398																																						.											0													222.0	221.0	221.0					10																	63957976		2203	4300	6503	SO:0001819	synonymous_variant	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1521T>G	10.37:g.63957976A>C			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																				0.398	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307	
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	70702984	70702984	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:70702984G>C	ENST00000373585.3	+	14	2013	c.1906G>C	c.(1906-1908)Gtt>Ctt	p.V636L	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	636						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTGCTTTGATGTTCCTACAAC	0.289																																						.											0													159.0	151.0	154.0					10																	70702984		2202	4298	6500	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1906G>C	10.37:g.70702984G>C	ENSP00000362687:p.Val636Leu		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078399	0.36662	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20881	2.04	5.46	4.54	0.55810	GUCT (1);	0.111139	0.64402	D	0.000011	T	0.17831	0.0428	L	0.32530	0.975	0.41726	D	0.989531	B	0.18863	0.031	B	0.33960	0.173	T	0.07046	-1.0793	10	0.27785	T	0.31	-13.3868	8.7587	0.34661	0.1485:0.0:0.8515:0.0	.	636	Q9BQ39	DDX50_HUMAN	L	636	ENSP00000362687:V636L	ENSP00000362687:V636L	V	+	1	0	DDX50	70372990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.695000	0.37763	2.715000	0.92844	0.563000	0.77884	GTT		0.289	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	
BRSK2	9024	broad.mit.edu;hgsc.bcm.edu	37	11	1466625	1466625	+	Missense_Mutation	SNP	G	G	A	rs200112243		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1466625G>A	ENST00000528841.1	+	10	1298	c.914G>A	c.(913-915)aGc>aAc	p.S305N	BRSK2_ENST00000382179.1_Missense_Mutation_p.S351N|BRSK2_ENST00000528710.1_Missense_Mutation_p.S245N|BRSK2_ENST00000308230.5_Missense_Mutation_p.S305N|BRSK2_ENST00000531197.1_Missense_Mutation_p.S305N|BRSK2_ENST00000526678.1_Missense_Mutation_p.S305N|BRSK2_ENST00000308219.9_Missense_Mutation_p.S305N|BRSK2_ENST00000544817.1_5'UTR			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	305	UBA.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GTGCTGGACAGCATGCACTCA	0.672																																						.											0													33.0	41.0	39.0					11																	1466625		2133	4244	6377	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.914G>A	11.37:g.1466625G>A	ENSP00000432000:p.Ser305Asn		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749752	0.69533	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.63;-0.66;-0.63;-0.47;-0.49	3.55	3.55	0.40652	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	D	0.82779	0.5111	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;0.999;0.998;0.997	D;D;D;D;D	0.91635	0.999;0.986;0.999;0.954;0.962	T	0.82589	-0.0382	10	0.31617	T	0.26	.	15.6596	0.77174	0.0:0.0:1.0:0.0	.	305;351;305;305;305	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	N	305;305;305;305;305;245;351	ENSP00000310697:S305N;ENSP00000431152:S305N;ENSP00000310805:S305N;ENSP00000432000:S305N;ENSP00000433370:S305N;ENSP00000433235:S245N;ENSP00000371614:S351N	ENSP00000310697:S305N	S	+	2	0	BRSK2	1423201	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.367000	0.79558	1.993000	0.58246	0.462000	0.41574	AGC		0.672	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957	
NTM	50863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	132081945	132081945	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:132081945G>T	ENST00000374786.1	+	3	909	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	NTM_ENST00000425719.2_Missense_Mutation_p.D144Y|NTM_ENST00000374784.1_Missense_Mutation_p.D144Y|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.D144Y|NTM_ENST00000427481.2_Missense_Mutation_p.D135Y|NTM_ENST00000539799.1_Missense_Mutation_p.D144Y	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	144	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GATTTCTTCAGATATCTCCAT	0.383																																						.											0													86.0	85.0	85.0					11																	132081945		2201	4297	6498	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.430G>T	11.37:g.132081945G>T	ENSP00000363918:p.Asp144Tyr		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052330	0.75960	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.70045	1.5;1.5;-0.45;1.5;1.5;1.5;1.5	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141134	0.64402	D	0.000005	T	0.79947	0.4534	M	0.90252	3.1	0.58432	D	0.999999	P;P;P;P;P;P	0.52170	0.951;0.951;0.717;0.871;0.717;0.844	P;P;B;P;B;B	0.52189	0.692;0.562;0.349;0.562;0.349;0.426	D	0.83633	0.0146	10	0.87932	D	0	-20.5157	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	144;135;144;144;144;144	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	Y	144;144;135;135;144;144;144	ENSP00000363923:D144Y;ENSP00000437668:D144Y;ENSP00000448104:D135Y;ENSP00000416320:D135Y;ENSP00000363918:D144Y;ENSP00000396722:D144Y;ENSP00000363916:D144Y	ENSP00000363916:D144Y	D	+	1	0	NTM	131587155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.891000	0.69782	2.941000	0.99782	0.655000	0.94253	GAT		0.383	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
NRAS	4893	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												.		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	610	Substitution - Missense(609)|Complex(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)											180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys		Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
CRNN	49860	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	152382811	152382811	+	Missense_Mutation	SNP	C	C	A	rs574082627		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:152382811C>A	ENST00000271835.3	-	3	809	c.747G>T	c.(745-747)caG>caT	p.Q249H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	249	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTCCTGTCTGGTGGCTGC	0.597																																						.											0													243.0	248.0	247.0					1																	152382811		2203	4300	6503	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.747G>T	1.37:g.152382811C>A	ENSP00000271835:p.Gln249His		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616492	0.28801	.	.	ENSG00000143536	ENST00000271835	T	0.05855	3.38	4.83	-2.35	0.06684	.	0.382752	0.22584	N	0.058163	T	0.01156	0.0038	L	0.43152	1.355	0.09310	N	1	P	0.36199	0.543	B	0.32533	0.147	T	0.47711	-0.9096	10	0.23302	T	0.38	.	2.9523	0.05866	0.1338:0.3258:0.386:0.1545	.	249	Q9UBG3	CRNN_HUMAN	H	249	ENSP00000271835:Q249H	ENSP00000271835:Q249H	Q	-	3	2	CRNN	150649435	0.138000	0.22547	0.000000	0.03702	0.229000	0.25112	-0.018000	0.12568	-0.673000	0.05259	0.585000	0.79938	CAG		0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190	
EFNA4	1945	hgsc.bcm.edu;mdanderson.org	37	1	155036407	155036407	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:155036407C>T	ENST00000368409.3	+	1	201	c.108C>T	c.(106-108)aaC>aaT	p.N36N	EFNA4_ENST00000427683.2_Silent_p.N36N|EFNA4_ENST00000359751.4_Silent_p.N36N|EFNA3_ENST00000505139.1_Silent_p.N36N|EFNA3_ENST00000556931.1_Silent_p.N36N	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	36	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACTCCAGTAACCCCAGGTAGC	0.726																																						.											0													6.0	8.0	7.0					1																	155036407		2152	4192	6344	SO:0001819	synonymous_variant	1945			AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"""Ephrins"""	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.108C>T	1.37:g.155036407C>T			C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Silent	SNP	ENST00000368409.3	37	CCDS1089.1																																																																																				0.726	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085421.2	NM_005227	
SPTA1	6708	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	158596633	158596633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:158596633C>T	ENST00000368147.4	-	41	6009	c.5829G>A	c.(5827-5829)tgG>tgA	p.W1943*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1943					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATACCTATCCAAGCCTCTA	0.453																																						.											0													124.0	125.0	125.0					1																	158596633		1887	4111	5998	SO:0001587	stop_gained	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5829G>A	1.37:g.158596633C>T	ENSP00000357129:p.Trp1943*		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	47	13.469828	0.99744	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.41	5.41	0.78517	.	0.000000	0.30410	N	0.009696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9494	0.89047	0.0:1.0:0.0:0.0	.	.	.	.	X	1943;1940	.	ENSP00000357129:W1940X	W	-	3	0	SPTA1	156863257	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.089000	0.76909	2.816000	0.96949	0.563000	0.77884	TGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
MS4A5	64232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	60198312	60198312	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:60198312T>G	ENST00000300190.2	+	2	283	c.197T>G	c.(196-198)gTt>gGt	p.V66G	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	66						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TCTTTTGGAGTTATCTTCCTT	0.373																																						.											0													241.0	236.0	238.0					11																	60198312		2203	4300	6503	SO:0001583	missense	64232			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.197T>G	11.37:g.60198312T>G	ENSP00000300190:p.Val66Gly		Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.573|4.573	0.106380|0.106380	0.08780|0.08780	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905|ENST00000300190	.|T	.|0.02280	.|4.36	4.82|4.82	2.48|2.48	0.30137|0.30137	.|.	.|0.667620	.|0.14473	.|N	.|0.317428	T|T	0.02727|0.02727	0.0082|0.0082	L|L	0.46885|0.46885	1.475|1.475	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.20887	.|0.049	.|B	.|0.29716	.|0.106	T|T	0.43130|0.43130	-0.9410|-0.9410	5|10	.|0.29301	.|T	.|0.29	-0.5522|-0.5522	5.1697|5.1697	0.15103|0.15103	0.0:0.2396:0.0:0.7604|0.0:0.2396:0.0:0.7604	.|.	.|66	.|Q9H3V2	.|MS4A5_HUMAN	R|G	39|66	.|ENSP00000300190:V66G	.|ENSP00000300190:V66G	S|V	+|+	3|2	2|0	MS4A5|MS4A5	59954888|59954888	0.026000|0.026000	0.19158|0.19158	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	1.186000|1.186000	0.32078|0.32078	0.882000|0.882000	0.36016|0.36016	0.533000|0.533000	0.62120|0.62120	AGT|GTT		0.373	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1		
COPA	1314	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	160275563	160275563	+	Splice_Site	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:160275563C>G	ENST00000241704.7	-	16	1672	c.1443G>C	c.(1441-1443)cgG>cgC	p.R481R	COPA_ENST00000368069.3_Splice_Site_p.R481R	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	481					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCCAGAGTCCTGAGATAGA	0.398																																						.											0													113.0	108.0	110.0					1																	160275563		2203	4300	6503	SO:0001630	splice_region_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1443-1G>C	1.37:g.160275563C>G			Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	CCDS1202.1																																																																																				0.398	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Silent
GPR161	23432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	168066296	168066296	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:168066296G>T	ENST00000367838.1	-	5	862	c.549C>A	c.(547-549)caC>caA	p.H183Q	GPR161_ENST00000537209.1_Missense_Mutation_p.H203Q|GPR161_ENST00000546300.1_Missense_Mutation_p.H69Q|GPR161_ENST00000367836.1_Missense_Mutation_p.H51Q|GPR161_ENST00000361697.2_Missense_Mutation_p.H183Q|GPR161_ENST00000539777.1_Missense_Mutation_p.H105Q|GPR161_ENST00000367835.1_Missense_Mutation_p.H183Q|GPR161_ENST00000271357.5_Missense_Mutation_p.H183Q	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	183					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CAGGCTCCCGGTGCCAAGCAG	0.587																																						.											0													71.0	57.0	62.0					1																	168066296		2203	4300	6503	SO:0001583	missense	23432			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.549C>A	1.37:g.168066296G>T	ENSP00000356812:p.His183Gln		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426971	0.43122	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.07	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.47190	1.495	0.45129	D	0.998149	D;D;D;B;D;D	0.71674	0.976;0.996;0.998;0.356;0.962;0.996	P;P;D;B;B;P	0.64776	0.561;0.852;0.929;0.147;0.253;0.852	T	0.14282	-1.0478	9	0.29301	T	0.29	-32.4148	9.0699	0.36486	0.0784:0.0:0.7731:0.1485	.	203;69;105;203;183;183	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	Q	183;183;51;183;69;105;203;183	ENSP00000356812:H183Q;ENSP00000271357:H183Q;ENSP00000356810:H51Q;ENSP00000356809:H183Q;ENSP00000444348:H69Q;ENSP00000437576:H105Q;ENSP00000441039:H203Q;ENSP00000355194:H183Q	ENSP00000271357:H183Q	H	-	3	2	GPR161	166332920	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.356000	0.59430	1.207000	0.43291	0.561000	0.74099	CAC		0.587	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
FMO3	2328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	171072967	171072967	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:171072967C>T	ENST00000367755.4	+	3	285	c.174C>T	c.(172-174)gtC>gtT	p.V58V	FMO3_ENST00000538429.1_Intron|FMO3_ENST00000392085.2_Silent_p.V58V|FMO3_ENST00000542847.1_Silent_p.V38V|MIR1295A_ENST00000408463.1_RNA	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	58					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ACAAATCAGTCTTTTCCAACT	0.423																																						.											0													169.0	164.0	166.0					1																	171072967		2203	4300	6503	SO:0001819	synonymous_variant	2328			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.174C>T	1.37:g.171072967C>T			B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	CCDS1292.1																																																																																				0.423	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
PAPPA2	60676	hgsc.bcm.edu;ucsc.edu	37	1	176709219	176709219	+	Silent	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:176709219A>C	ENST00000367662.3	+	14	5202	c.4038A>C	c.(4036-4038)tcA>tcC	p.S1346S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1346					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAATTTCTCATCCCCACGGG	0.522																																						.											0													188.0	184.0	185.0					1																	176709219		2032	4187	6219	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4038A>C	1.37:g.176709219A>C			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
F13B	2165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	197026583	197026583	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:197026583C>T	ENST00000367412.1	-	6	861	c.818G>A	c.(817-819)aGa>aAa	p.R273K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	273	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGGAGGACATCTGTTTCTTCT	0.294																																						.											0													149.0	129.0	136.0					1																	197026583		2203	4300	6503	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.818G>A	1.37:g.197026583C>T	ENSP00000356382:p.Arg273Lys		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539171	0.27475	.	.	ENSG00000143278	ENST00000367412	T	0.70399	-0.48	5.65	5.65	0.86999	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.29692	N	0.011460	T	0.47875	0.1469	N	0.12920	0.275	0.32124	N	0.587586	B	0.23540	0.087	B	0.28011	0.085	T	0.50268	-0.8848	10	0.06236	T	0.91	.	7.3866	0.26886	0.0:0.801:0.0:0.199	.	273	P05160	F13B_HUMAN	K	273	ENSP00000356382:R273K	ENSP00000356382:R273K	R	-	2	0	F13B	195293206	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.294000	0.51787	2.655000	0.90218	0.655000	0.94253	AGA		0.294	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	
TIMM17A	10440	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	201934576	201934576	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:201934576T>C	ENST00000367287.4	+	5	371	c.335T>C	c.(334-336)aTg>aCg	p.M112T	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	112					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						CCAGTGGCCATGGTTGGGTCA	0.408																																						.											0													116.0	116.0	116.0					1																	201934576		2203	4300	6503	SO:0001583	missense	10440			AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.335T>C	1.37:g.201934576T>C	ENSP00000356256:p.Met112Thr		B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470423	0.63625	.	.	ENSG00000134375	ENST00000367287	T	0.32272	1.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	M	0.65677	2.01	0.80722	D	1	P	0.45634	0.863	P	0.49953	0.627	T	0.32241	-0.9914	10	0.44086	T	0.13	-0.0327	13.5811	0.61903	0.0:0.0:0.0:1.0	.	112	Q99595	TI17A_HUMAN	T	112	ENSP00000356256:M112T	ENSP00000356256:M112T	M	+	2	0	TIMM17A	200201199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.620000	0.83070	2.151000	0.67156	0.533000	0.62120	ATG		0.408	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335	
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	53670499	53670499	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:53670499C>G	ENST00000257934.4	+	8	1887	c.1796C>G	c.(1795-1797)aCt>aGt	p.T599S	ESPL1_ENST00000552462.1_Missense_Mutation_p.T599S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	599					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CGGGCCGACACTGGACAGGAA	0.662																																					Colon(53;1069 1201 2587 5382)	.											0													45.0	45.0	45.0					12																	53670499		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1796C>G	12.37:g.53670499C>G	ENSP00000257934:p.Thr599Ser			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438324	0.62955	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13538	2.58;2.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.62723	1.935	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.00593	-1.1654	10	0.36615	T	0.2	.	18.0804	0.89440	0.0:1.0:0.0:0.0	.	599	Q14674	ESPL1_HUMAN	S	599;274;599	ENSP00000257934:T599S;ENSP00000449831:T599S	ENSP00000257934:T599S	T	+	2	0	ESPL1	51956766	1.000000	0.71417	0.403000	0.26384	0.152000	0.21847	7.220000	0.78008	2.808000	0.96608	0.655000	0.94253	ACT		0.662	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
LATS2	26524	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	21557476	21557476	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr13:21557476C>T	ENST00000382592.4	-	5	2774	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	LATS2_ENST00000542899.1_Missense_Mutation_p.R790Q	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTTGATGTCTCGGTGGATGAA	0.502																																						.											0													107.0	95.0	99.0					13																	21557476		2203	4300	6503	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2369G>A	13.37:g.21557476C>T	ENSP00000372035:p.Arg790Gln			Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753970	0.89843	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.19250	2.16;2.16	5.05	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.61751	0.2372	H	0.97758	4.07	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.77661	-0.2504	10	0.87932	D	0	.	14.9578	0.71131	0.144:0.856:0.0:0.0	.	790	Q9NRM7	LATS2_HUMAN	Q	790	ENSP00000372035:R790Q;ENSP00000441817:R790Q	ENSP00000372035:R790Q	R	-	2	0	LATS2	20455476	1.000000	0.71417	0.951000	0.38953	0.998000	0.95712	7.568000	0.82369	1.338000	0.45544	0.555000	0.69702	CGA		0.502	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1		
CSMD2	114784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	34209065	34209065	+	Silent	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:34209065A>G	ENST00000373381.4	-	14	2165	c.1989T>C	c.(1987-1989)atT>atC	p.I663I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	623	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCCACGTCAATGTCGTTGA	0.602																																						.											0													84.0	85.0	85.0					1																	34209065		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1989T>C	1.37:g.34209065A>G			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	86808034	86808034	+	Silent	SNP	C	C	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr15:86808034C>A	ENST00000441037.2	+	10	1589	c.1494C>A	c.(1492-1494)acC>acA	p.T498T	AGBL1_ENST00000389298.3_Silent_p.T229T|AGBL1_ENST00000421325.2_Silent_p.T498T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	498					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTCCCACCACCCAGCCTATGT	0.458																																						.											0													77.0	76.0	76.0					15																	86808034		1933	4133	6066	SO:0001819	synonymous_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1494C>A	15.37:g.86808034C>A			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.458	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
DNAH9	1770	hgsc.bcm.edu	37	17	11540080	11540080	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:11540080G>A	ENST00000262442.4	+	9	1833	c.1765G>A	c.(1765-1767)Gtc>Atc	p.V589I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V589I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	589	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTCAGCACGTCCAGGAGGA	0.438																																						.											0													142.0	136.0	138.0					17																	11540080		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1765G>A	17.37:g.11540080G>A	ENSP00000262442:p.Val589Ile		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	8.137	0.784355	0.16189	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55930	0.49;0.49	5.7	-2.02	0.07388	Dynein heavy chain, domain-1 (1);	0.744667	0.11942	N	0.514613	T	0.29882	0.0747	N	0.17723	0.515	0.40336	D	0.978987	B	0.11235	0.004	B	0.06405	0.002	T	0.09952	-1.0651	10	0.22109	T	0.4	.	6.3992	0.21628	0.4728:0.1275:0.3997:0.0	.	589	Q9NYC9	DYH9_HUMAN	I	589	ENSP00000262442:V589I;ENSP00000414874:V589I	ENSP00000262442:V589I	V	+	1	0	DNAH9	11480805	0.000000	0.05858	0.600000	0.28864	0.827000	0.46813	-0.478000	0.06575	-0.157000	0.11059	0.655000	0.94253	GTC		0.438	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ITGA3	3675	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	48154412	48154412	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:48154412C>G	ENST00000320031.8	+	15	2327	c.1997C>G	c.(1996-1998)tCc>tGc	p.S666C	ITGA3_ENST00000007722.7_Missense_Mutation_p.S666C	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	666					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCGGAGCGCTCCGGGGAGGAC	0.687																																						.											0													18.0	18.0	18.0					17																	48154412		2202	4298	6500	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1997C>G	17.37:g.48154412C>G	ENSP00000315190:p.Ser666Cys		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687351	0.14973	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.48522	0.81;0.81	5.44	3.49	0.39957	Integrin alpha-2 (1);	0.576176	0.18753	N	0.132140	T	0.22244	0.0536	N	0.08118	0	0.09310	N	0.999999	B;B	0.29531	0.086;0.247	B;B	0.24394	0.015;0.053	T	0.12708	-1.0537	9	.	.	.	.	6.737	0.23415	0.1437:0.7021:0.0:0.1542	.	666;666	P26006-1;P26006	.;ITA3_HUMAN	C	666;652;666	ENSP00000007722:S666C;ENSP00000315190:S666C	.	S	+	2	0	ITGA3	45509411	0.034000	0.19679	0.146000	0.22360	0.008000	0.06430	2.241000	0.43097	0.877000	0.35895	-0.137000	0.14449	TCC		0.687	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
KIF19	124602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	72348987	72348987	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:72348987G>A	ENST00000389916.4	+	15	2146	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	670					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AATTACCCCAGCAGGAACCTC	0.567																																						.											0													124.0	132.0	129.0					17																	72348987		1976	4173	6149	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2008G>A	17.37:g.72348987G>A	ENSP00000374566:p.Ala670Thr		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031178	0.35797	.	.	ENSG00000196169	ENST00000389916	T	0.70986	-0.53	5.22	3.19	0.36642	.	.	.	.	.	T	0.56688	0.2002	L	0.47716	1.5	0.28564	N	0.91098	P	0.39391	0.671	B	0.32864	0.154	T	0.44112	-0.9349	9	0.13853	T	0.58	.	10.0998	0.42497	0.077:0.1383:0.7847:0.0	.	670	Q2TAC6	KIF19_HUMAN	T	670	ENSP00000374566:A670T	ENSP00000374566:A670T	A	+	1	0	KIF19	69860582	0.018000	0.18449	0.154000	0.22540	0.734000	0.41952	1.180000	0.32005	0.695000	0.31675	0.456000	0.33151	GCA		0.567	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
DSG2	1829	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	18	29122688	29122688	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr18:29122688C>T	ENST00000261590.8	+	14	2416	c.2207C>T	c.(2206-2208)aCa>aTa	p.T736I	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	736					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACAGGGGCCACAGGCGCTATC	0.552																																						.											0													102.0	108.0	106.0					18																	29122688		2011	4187	6198	SO:0001583	missense	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2207C>T	18.37:g.29122688C>T	ENSP00000261590:p.Thr736Ile		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258185	0.39896	.	.	ENSG00000046604	ENST00000261590	T	0.59772	0.24	5.97	5.1	0.69264	.	0.803958	0.11227	N	0.586116	T	0.42675	0.1213	N	0.14661	0.345	0.42832	D	0.994021	B	0.14805	0.011	B	0.09377	0.004	T	0.18053	-1.0349	10	0.38643	T	0.18	.	12.7234	0.57154	0.0:0.9209:0.0:0.0791	.	736	Q14126	DSG2_HUMAN	I	736	ENSP00000261590:T736I	ENSP00000261590:T736I	T	+	2	0	DSG2	27376686	0.002000	0.14202	0.047000	0.18901	0.003000	0.03518	0.773000	0.26661	1.522000	0.49001	0.655000	0.94253	ACA		0.552	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	
CYP4F11	57834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	16025181	16025181	+	Missense_Mutation	SNP	C	C	T	rs200410691		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:16025181C>T	ENST00000402119.4	-	11	1757	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	CYP4F11_ENST00000326742.8_Silent_p.P422P|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R119H|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R444H	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TTGGTCGAAACGGAAGGGGTC	0.587																																						.											0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	135.0	135.0		1331,1331	2.9	0.8	19		135	0,8600		0,0,4300	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	444/525,444/525	16025181	1,13005	2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1331G>A	19.37:g.16025181C>T	ENSP00000384588:p.Arg444His			Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.611014	0.46631	2.27E-4	0.0	ENSG00000171903	ENST00000402119;ENST00000248041	D;D	0.94000	-3.33;-3.33	2.93	2.93	0.34026	.	0.000000	0.64402	U	0.000003	D	0.96731	0.8933	M	0.90483	3.12	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96926	0.9677	10	0.87932	D	0	.	11.6202	0.51113	0.0:1.0:0.0:0.0	.	444	Q9HBI6	CP4FB_HUMAN	H	444	ENSP00000384588:R444H;ENSP00000248041:R444H	ENSP00000248041:R444H	R	-	2	0	CYP4F11	15886181	1.000000	0.71417	0.763000	0.31416	0.009000	0.06853	6.462000	0.73526	1.621000	0.50320	0.462000	0.41574	CGT		0.587	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	
UNC13A	23025	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	17756839	17756839	+	Missense_Mutation	SNP	T	T	G	rs543896701		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:17756839T>G	ENST00000519716.2	-	18	2125	c.2126A>C	c.(2125-2127)aAg>aCg	p.K709T	UNC13A_ENST00000550896.1_Missense_Mutation_p.K707T|UNC13A_ENST00000252773.7_Missense_Mutation_p.K709T|UNC13A_ENST00000552293.1_Missense_Mutation_p.K709T|UNC13A_ENST00000428389.2_Missense_Mutation_p.K797T|UNC13A_ENST00000551649.1_Missense_Mutation_p.K709T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	709	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGTCCGTTTCTTGGTCTTCCC	0.577																																						.											0													85.0	81.0	83.0					19																	17756839		1970	4183	6153	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2126A>C	19.37:g.17756839T>G	ENSP00000429562:p.Lys709Thr		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883115	0.72410	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	3.85	3.85	0.44370	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.72558	0.3475	N	0.25031	0.7	0.53688	D	0.999976	D	0.76494	0.999	D	0.83275	0.996	T	0.75528	-0.3286	10	0.87932	D	0	-25.0588	10.8835	0.46953	0.0:0.0:0.0:1.0	.	709	Q9UPW8	UN13A_HUMAN	T	709;797;709;709;709;707	ENSP00000429562:K709T;ENSP00000400409:K797T;ENSP00000252773:K709T;ENSP00000447236:K709T;ENSP00000447572:K709T;ENSP00000446831:K707T	ENSP00000252773:K709T	K	-	2	0	UNC13A	17617839	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.846000	0.86887	1.526000	0.49068	0.260000	0.18958	AAG		0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
ANKRD27	84079	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	33113433	33113433	+	Silent	SNP	G	G	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:33113433G>T	ENST00000306065.4	-	18	1880	c.1722C>A	c.(1720-1722)cgC>cgA	p.R574R		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	574					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTAGCCCCAGCGGGCAGCAA	0.532																																						.											0													175.0	162.0	167.0					19																	33113433		2203	4300	6503	SO:0001819	synonymous_variant	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1722C>A	19.37:g.33113433G>T			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	CCDS32986.1																																																																																				0.532	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139	
ZNF667	63934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	56952705	56952705	+	Silent	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:56952705T>C	ENST00000504904.3	-	7	2378	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	ZNF667_ENST00000342634.3_Silent_p.K681K|ZNF667_ENST00000292069.6_Silent_p.K553K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTCATAGGGTTTCTCTCCAG	0.408																																						.											0													102.0	95.0	97.0					19																	56952705		2203	4300	6503	SO:0001819	synonymous_variant	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1659A>G	19.37:g.56952705T>C			B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	CCDS12944.1																																																																																				0.408	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
DDRGK1	65992	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	3172425	3172425	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:3172425C>A	ENST00000354488.3	-	7	772	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	DDRGK1_ENST00000380201.2_Missense_Mutation_p.G239C|DDRGK1_ENST00000496781.1_5'Flank	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	239	PCI.					endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GTGCGTAGGCCCACCTGGGAA	0.547																																						.											0													56.0	43.0	48.0					20																	3172425		2202	4300	6502	SO:0001583	missense	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.715G>T	20.37:g.3172425C>A	ENSP00000346483:p.Gly239Cys		A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	ENST00000354488.3	37	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136183	0.77662	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.52754	0.65	4.99	4.99	0.66335	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77376	-0.2611	10	0.72032	D	0.01	-14.2679	15.7693	0.78152	0.0:1.0:0.0:0.0	.	239	Q96HY6	DDRGK_HUMAN	C	239	ENSP00000346483:G239C	ENSP00000346483:G239C	G	-	1	0	DDRGK1	3120425	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.054000	0.64275	2.332000	0.79248	0.591000	0.81541	GGC		0.547	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935	
DIDO1	11083	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	61525220	61525220	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:61525220C>A	ENST00000266070.4	-	12	3224	c.2899G>T	c.(2899-2901)Gac>Tac	p.D967Y	DIDO1_ENST00000395340.1_Missense_Mutation_p.D967Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.D967Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.D967Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	967					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCTGGGGTCCCGGCCGGAC	0.677																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											0													63.0	61.0	62.0					20																	61525220		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2899G>T	20.37:g.61525220C>A	ENSP00000266070:p.Asp967Tyr		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923538	0.92319	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.45668	1.91;1.91;0.89;0.89	6.17	6.17	0.99709	.	0.000000	0.44902	D	0.000420	T	0.67487	0.2898	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66705	-0.5856	10	0.87932	D	0	-55.9966	20.8794	0.99867	0.0:1.0:0.0:0.0	.	967;967	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	967	ENSP00000266070:D967Y;ENSP00000378752:D967Y;ENSP00000378749:D967Y;ENSP00000378744:D967Y	ENSP00000266070:D967Y	D	-	1	0	DIDO1	60995665	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	6.112000	0.71547	2.941000	0.99782	0.655000	0.94253	GAC		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
KYNU	8942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	143713785	143713785	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:143713785A>G	ENST00000264170.4	+	6	707	c.449A>G	c.(448-450)aAg>aGg	p.K150R	KYNU_ENST00000375773.2_Missense_Mutation_p.K150R|KYNU_ENST00000409512.1_Missense_Mutation_p.K150R	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TCATTTTTTAAGCCTACGCCA	0.289																																						.											0													85.0	85.0	85.0					2																	143713785		2203	4298	6501	SO:0001583	missense	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.449A>G	2.37:g.143713785A>G	ENSP00000264170:p.Lys150Arg			Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	A	3.590	-0.083860	0.07141	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.54479	0.57;0.57;0.57	4.76	4.76	0.60689	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.053541	0.64402	D	0.000001	T	0.27900	0.0687	N	0.12443	0.215	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.15870	0.012;0.014	T	0.14896	-1.0456	10	0.02654	T	1	.	9.1649	0.37046	0.9171:0.0:0.0829:0.0	.	150;150	Q16719;Q9BVW3	KYNU_HUMAN;.	R	150	ENSP00000264170:K150R;ENSP00000364928:K150R;ENSP00000386731:K150R	ENSP00000264170:K150R	K	+	2	0	KYNU	143430255	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.398000	0.66308	1.912000	0.55364	0.482000	0.46254	AAG		0.289	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
MBD5	55777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	149247532	149247532	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:149247532A>C	ENST00000407073.1	+	12	4629	c.3632A>C	c.(3631-3633)aAg>aCg	p.K1211T	MBD5_ENST00000404807.1_Missense_Mutation_p.K1444T	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1211					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACAGGTGGAAGTACGAGGAA	0.488																																						.											0													116.0	109.0	112.0					2																	149247532		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3632A>C	2.37:g.149247532A>C	ENSP00000386049:p.Lys1211Thr		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905528	0.52333	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.73;0.72	6.01	4.87	0.63330	.	0.084798	0.50627	D	0.000113	T	0.35393	0.0930	N	0.24115	0.695	0.34601	D	0.716486	B;B	0.25312	0.123;0.123	B;B	0.24974	0.057;0.034	T	0.47032	-0.9148	10	0.87932	D	0	-4.5836	11.9889	0.53163	0.9328:0.0:0.0672:0.0	.	1444;1211	E9PHH0;Q9P267	.;MBD5_HUMAN	T	1211;1444	ENSP00000386049:K1211T;ENSP00000384672:K1444T	ENSP00000384672:K1444T	K	+	2	0	MBD5	148964002	1.000000	0.71417	0.899000	0.35326	0.989000	0.77384	4.135000	0.57997	1.107000	0.41642	0.533000	0.62120	AAG		0.488	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	179437087	179437087	+	Missense_Mutation	SNP	A	A	G	rs371513695		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:179437087A>G	ENST00000591111.1	-	276	69073	c.68849T>C	c.(68848-68850)tTc>tCc	p.F22950S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F15651S|TTN_ENST00000460472.2_Missense_Mutation_p.F15526S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F24591S|TTN_ENST00000342175.6_Missense_Mutation_p.F15718S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F22023S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22950	Fibronectin type-III 66. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGAACCCTGAAATAGTAGCT	0.448																																						.											0													80.0	75.0	77.0					2																	179437087		1888	4117	6005	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68849T>C	2.37:g.179437087A>G	ENSP00000465570:p.Phe22950Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	13.65	2.301097	0.40694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89487	0.6729	H	0.99834	4.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94293	0.7530	9	0.87932	D	0	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	15526;15651;15718;22950	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	22023;15526;15718;15651;15524	ENSP00000343764:F22023S;ENSP00000434586:F15526S;ENSP00000340554:F15718S;ENSP00000352154:F15651S	ENSP00000340554:F15718S	F	-	2	0	TTN	179145333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.330000	0.79161	0.528000	0.53228	TTC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
WDR35	57539	hgsc.bcm.edu;ucsc.edu	37	2	20189771	20189771	+	Silent	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:20189771G>A	ENST00000345530.3	-	1	121	c.6C>T	c.(4-6)ttC>ttT	p.F2F	AC079145.4_ENST00000416575.1_RNA|WDR35_ENST00000281405.4_Silent_p.F2F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	2					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGTAGAAGAACATCGTGG	0.617																																						.											0													81.0	69.0	73.0					2																	20189771		2203	4300	6503	SO:0001819	synonymous_variant	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.6C>T	2.37:g.20189771G>A			B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																				0.617	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	2	179644742	179644742	+	Silent	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:179644742A>C	ENST00000591111.1	-	22	3938	c.3714T>G	c.(3712-3714)acT>acG	p.T1238T	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.T1192T|TTN_ENST00000460472.2_Silent_p.T1192T|TTN_ENST00000589042.1_Silent_p.T1238T|TTN_ENST00000342175.6_Silent_p.T1192T|TTN_ENST00000342992.6_Silent_p.T1238T|TTN_ENST00000360870.5_Silent_p.T1238T			Q8WZ42	TITIN_HUMAN	titin	33443					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T1192T(5)|p.T1238T(4)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTACATAAGTTCTGACCA	0.308																																						.											9	Substitution - coding silent(9)	large_intestine(5)|stomach(4)											126.0	115.0	119.0					2																	179644742		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3714T>G	2.37:g.179644742A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTLL12	23170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	43565506	43565506	+	Splice_Site	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr22:43565506C>T	ENST00000216129.6	-	12	1707	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	TTLL12_ENST00000494035.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	548	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGGAATTACCTGGACGTCCG	0.622																																						.											0													50.0	43.0	45.0					22																	43565506		2202	4299	6501	SO:0001630	splice_region_variant	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1644+1G>A	22.37:g.43565506C>T			Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	CCDS14047.1																																																																																				0.622	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140	Silent
FGFBP2	83888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	15964500	15964500	+	Missense_Mutation	SNP	C	C	T	rs111244757		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:15964500C>T	ENST00000259989.6	-	1	359	c.253G>A	c.(253-255)Gct>Act	p.A85T	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	85						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGTCAGCAGCGAAAGCCTGG	0.622																																						.											0													54.0	54.0	54.0					4																	15964500		2203	4300	6503	SO:0001583	missense	83888			AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.253G>A	4.37:g.15964500C>T	ENSP00000259989:p.Ala85Thr			Missense_Mutation	SNP	ENST00000259989.6	37	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.743909	0.00675	.	.	ENSG00000137441	ENST00000259989	T	0.13778	2.56	2.98	-1.37	0.09056	.	114.197000	0.00397	N	0.000044	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	10	0.10902	T	0.67	.	4.6434	0.12560	0.0:0.2269:0.3136:0.4596	.	85	Q9BYJ0	FGFP2_HUMAN	T	85	ENSP00000259989:A85T	ENSP00000259989:A85T	A	-	1	0	FGFBP2	15573598	0.223000	0.23663	0.000000	0.03702	0.007000	0.05969	0.337000	0.19841	-0.608000	0.05731	-0.127000	0.14921	GCT		0.622	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950	
LEF1	51176	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	109084842	109084842	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:109084842C>G	ENST00000265165.1	-	3	950	c.296G>C	c.(295-297)gGa>gCa	p.G99A	LEF1_ENST00000438313.2_Missense_Mutation_p.G99A|LEF1_ENST00000512172.1_Missense_Mutation_p.G31A|LEF1_ENST00000379951.2_Missense_Mutation_p.G99A|LEF1_ENST00000510624.1_Missense_Mutation_p.G31A	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	99	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GTAGAGGCCTCCATCTGGATG	0.388																																						.											0													120.0	109.0	113.0					4																	109084842		2203	4300	6503	SO:0001583	missense	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.296G>C	4.37:g.109084842C>G	ENSP00000265165:p.Gly99Ala		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968790	0.53614	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99338	-5.63;-5.76;-5.75;-5.54	5.83	5.83	0.93111	CTNNB1 binding, N-teminal (1);	0.222920	0.47093	D	0.000246	D	0.97654	0.9231	L	0.33339	1.005	0.41780	D	0.989819	B;P;B;B	0.37864	0.351;0.61;0.243;0.221	B;B;B;B	0.39771	0.203;0.198;0.287;0.309	D	0.97727	1.0200	10	0.35671	T	0.21	-6.0885	15.2407	0.73468	0.0:0.9313:0.0:0.0687	.	31;99;99;99	E9PDK3;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;LEF1_HUMAN	A	99;99;99;31;31;31	ENSP00000265165:G99A;ENSP00000369284:G99A;ENSP00000406176:G99A;ENSP00000422840:G31A	ENSP00000265165:G99A	G	-	2	0	LEF1	109304291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.157000	0.58144	2.763000	0.94921	0.563000	0.77884	GGA		0.388	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2		
MARCH1	55016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	164466780	164466780	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:164466780G>C	ENST00000503008.1	-	7	1515	c.539C>G	c.(538-540)aCa>aGa	p.T180R	MARCH1_ENST00000339875.5_Missense_Mutation_p.T163R|MARCH1_ENST00000514618.1_Missense_Mutation_p.T436R|MARCH1_ENST00000274056.7_Missense_Mutation_p.T180R	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	180					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCCTCCGCTGTCCGGTCTAT	0.438																																						.											0													238.0	181.0	200.0					4																	164466780		2203	4300	6503	SO:0001583	missense	55016			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.539C>G	4.37:g.164466780G>C	ENSP00000427223:p.Thr180Arg		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296636	0.81025	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.35236	1.77;1.77;1.32;1.38	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.59998	0.2235	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.76071	0.987;0.835	T	0.62599	-0.6820	10	0.56958	D	0.05	.	18.346	0.90322	0.0:0.0:1.0:0.0	.	180;163	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	R	180;180;436;163	ENSP00000274056:T180R;ENSP00000427223:T180R;ENSP00000421322:T436R;ENSP00000345676:T163R	ENSP00000274056:T180R	T	-	2	0	MARCH1	164686230	1.000000	0.71417	0.412000	0.26496	0.600000	0.36913	9.476000	0.97823	2.331000	0.79229	0.655000	0.94253	ACA		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
SEMA6A	57556	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	115840607	115840607	+	Missense_Mutation	SNP	G	G	C	rs36105994	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:115840607G>C	ENST00000343348.6	-	2	821	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.L12V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.L12V|SEMA6A_ENST00000503962.1_5'Flank	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	12					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AAGTGTAGCAGTGTGAAATAT	0.443																																						.											0													79.0	84.0	83.0					5																	115840607		1872	4106	5978	SO:0001583	missense	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.34C>G	5.37:g.115840607G>C	ENSP00000345512:p.Leu12Val		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757680	0.31137	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T	0.46819	2.21;2.21;2.21;0.86	5.36	5.36	0.76844	.	0.079008	0.52532	D	0.000065	T	0.39572	0.1083	L	0.36672	1.1	0.80722	D	1	B;B	0.21688	0.016;0.059	B;B	0.23574	0.015;0.047	T	0.17653	-1.0362	10	0.35671	T	0.21	.	13.6262	0.62165	0.0:0.0:0.8449:0.1551	.	12;12	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	12	ENSP00000345512:L12V;ENSP00000257414:L12V;ENSP00000424388:L12V;ENSP00000421935:L12V	ENSP00000257414:L12V	L	-	1	2	SEMA6A	115868506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.512000	0.84698	0.563000	0.77884	CTG		0.443	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
MCTP1	79772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	94046552	94046552	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:94046552A>C	ENST00000515393.1	-	21	2800	c.2801T>G	c.(2800-2802)aTt>aGt	p.I934S	MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.I627S|MCTP1_ENST00000312216.8_Missense_Mutation_p.I713S|MCTP1_ENST00000505078.1_Missense_Mutation_p.I450S|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	934					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTCAGCGGAATGCAGTACAG	0.458																																						.											0													109.0	92.0	98.0					5																	94046552		2203	4300	6503	SO:0001583	missense	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2801T>G	5.37:g.94046552A>C	ENSP00000424126:p.Ile934Ser		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321033	0.81580	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.79247	-1.25;-1.17;-0.22;-1.14;-0.99	5.79	5.79	0.91817	Phosphoribosyltransferase C-terminal (1);	0.107337	0.64402	D	0.000007	D	0.87067	0.6085	M	0.79123	2.44	0.80722	D	1	D;D;D	0.67145	0.991;0.982;0.996	P;P;P	0.62298	0.898;0.802;0.9	D	0.88754	0.3252	10	0.87932	D	0	-8.2988	16.1376	0.81497	1.0:0.0:0.0:0.0	.	934;627;713	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	S	934;627;450;713;654	ENSP00000424126:I934S;ENSP00000391639:I627S;ENSP00000426417:I450S;ENSP00000308957:I713S;ENSP00000423410:I654S	ENSP00000308957:I713S	I	-	2	0	MCTP1	94072308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.212000	0.71576	0.533000	0.62120	ATT		0.458	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
CPLX2	10814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	175306003	175306003	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:175306003C>T	ENST00000359546.4	+	4	767	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	CPLX2_ENST00000512824.1_Missense_Mutation_p.R42W|CPLX2_ENST00000515094.1_Missense_Mutation_p.R42W|CPLX2_ENST00000393745.3_Missense_Mutation_p.R42W	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	42	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ggaggcgctgcggcagcagga	0.672																																						.											0													16.0	15.0	15.0					5																	175306003		2199	4293	6492	SO:0001583	missense	10814			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.124C>T	5.37:g.175306003C>T	ENSP00000352544:p.Arg42Trp		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.934879	0.73442	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000512824;ENST00000393746;ENST00000514150;ENST00000502265;ENST00000515094	.	.	.	4.32	1.29	0.21616	.	0.000000	0.85682	U	0.000000	T	0.78635	0.4314	M	0.86651	2.83	0.58432	D	0.999994	D	0.76494	0.999	D	0.79784	0.993	T	0.78981	-0.1989	9	0.87932	D	0	-19.8811	10.9358	0.47245	0.501:0.4989:0.0:0.0	.	42	Q6PUV4	CPLX2_HUMAN	W	42	.	ENSP00000352544:R42W	R	+	1	2	CPLX2	175238609	0.908000	0.30866	0.520000	0.27837	0.950000	0.60333	0.553000	0.23391	0.048000	0.15891	0.457000	0.33378	CGG		0.672	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2		
RFX6	222546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	117248566	117248566	+	Silent	SNP	G	G	T	rs374248308		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:117248566G>T	ENST00000332958.2	+	17	2278	c.2262G>T	c.(2260-2262)ccG>ccT	p.P754P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	754					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCGGCCACCGTCTAGCTATG	0.512																																						.											0													56.0	54.0	55.0					6																	117248566		2203	4300	6503	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2262G>T	6.37:g.117248566G>T			Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																				0.512	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
SSC4D	136853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	76021323	76021323	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:76021323C>G	ENST00000275560.3	-	10	1716	c.1369G>C	c.(1369-1371)Ggt>Cgt	p.G457R	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCTCAGAACCATCCTGCTGG	0.592																																						.											0													50.0	37.0	41.0					7																	76021323		2202	4298	6500	SO:0001583	missense	136853																														ENST00000275560.3:c.1369G>C	7.37:g.76021323C>G	ENSP00000275560:p.Gly457Arg			Missense_Mutation	SNP	ENST00000275560.3	37	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096466	0.36952	.	.	ENSG00000146700	ENST00000275560	T	0.01240	5.12	4.81	4.81	0.61882	.	0.638678	0.16561	N	0.209050	T	0.01870	0.0059	L	0.27053	0.805	0.33951	D	0.644428	D	0.62365	0.991	P	0.47470	0.548	T	0.65582	-0.6133	10	0.17369	T	0.5	.	13.5728	0.61856	0.0:1.0:0.0:0.0	.	457	Q8WTU2	SRB4D_HUMAN	R	457	ENSP00000275560:G457R	ENSP00000275560:G457R	G	-	1	0	SRCRB4D	75859259	0.026000	0.19158	0.815000	0.32552	0.889000	0.51656	0.462000	0.21956	2.679000	0.91253	0.491000	0.48974	GGT		0.592	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		
SEMA3A	10371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	83590705	83590705	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:83590705C>T	ENST00000265362.4	-	17	2612	c.2298G>A	c.(2296-2298)agG>agA	p.R766R	SEMA3A_ENST00000436949.1_Silent_p.R766R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	766	Arg/Lys-rich (basic).				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCCTGGGTGCCCTCTCAAATT	0.433																																						.											0													153.0	155.0	154.0					7																	83590705		2203	4300	6503	SO:0001819	synonymous_variant	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2298G>A	7.37:g.83590705C>T				Silent	SNP	ENST00000265362.4	37	CCDS5599.1																																																																																				0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
ANKRD7	56311	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	117876137	117876137	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:117876137C>T	ENST00000265224.4	+	4	666	c.511C>T	c.(511-513)Cca>Tca	p.P171S	ANKRD7_ENST00000417525.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000357099.4_Missense_Mutation_p.P191S|ANKRD7_ENST00000433239.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	171					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TAACAATAATCCAAAAATGGT	0.279																																						.											0													77.0	79.0	79.0					7																	117876137		1797	4071	5868	SO:0001583	missense	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.511C>T	7.37:g.117876137C>T	ENSP00000265224:p.Pro171Ser		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	1.580	-0.531960	0.04112	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.52526	1.59;1.59;0.66;0.66	5.3	2.18	0.27775	Ankyrin repeat-containing domain (3);	0.727380	0.11614	N	0.546499	T	0.34571	0.0902	N	0.13299	0.325	0.09310	N	1	B	0.26975	0.165	B	0.34452	0.183	T	0.36915	-0.9728	10	0.42905	T	0.14	-0.2357	11.8021	0.52133	0.0777:0.3361:0.5862:0.0	.	171	Q92527	ANKR7_HUMAN	S	191;171;118;118	ENSP00000349612:P191S;ENSP00000265224:P171S;ENSP00000395595:P118S;ENSP00000388473:P118S	ENSP00000265224:P171S	P	+	1	0	ANKRD7	117663373	0.881000	0.30235	0.059000	0.19551	0.049000	0.14656	1.244000	0.32778	0.725000	0.32318	-0.479000	0.04858	CCA		0.279	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	
SLC25A32	81034	hgsc.bcm.edu	37	8	104427572	104427572	+	5'Flank	SNP	T	T	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:104427572T>A	ENST00000297578.4	-	0	0				DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|DCAF13_ENST00000519682.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Silent_p.T118T	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GTCACGTGACTGGAAGTAGTC	0.637																																						.											0													38.0	46.0	43.0					8																	104427572		2199	4297	6496	SO:0001631	upstream_gene_variant	25879			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427572T>A	Exception_encountered		Q96JZ6|Q96SU7	Silent	SNP	ENST00000297578.4	37	CCDS6300.1																																																																																				0.637	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780	
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	110530424	110530424	+	Silent	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:110530424T>C	ENST00000378402.5	+	73	11822	c.11718T>C	c.(11716-11718)acT>acC	p.T3906T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3906					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGATTCCACTGTCCTTGGTG	0.363										HNSCC(38;0.096)																												.											0													84.0	76.0	79.0					8																	110530424		1866	4089	5955	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11718T>C	8.37:g.110530424T>C			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	113988244	113988244	+	Silent	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:113988244A>G	ENST00000297405.5	-	7	1408	c.1164T>C	c.(1162-1164)caT>caC	p.H388H	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.H348H|CSMD3_ENST00000352409.3_Silent_p.H388H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	388						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGGAAAGTCTATGGATGGTGA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												.											0													198.0	175.0	183.0					8																	113988244		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1164T>C	8.37:g.113988244A>G			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CYP11B1	1584	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	143958438	143958438	+	Splice_Site	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:143958438C>T	ENST00000292427.4	-	3	628		c.e3+1		CYP11B1_ENST00000517471.1_Splice_Site|CYP11B1_ENST00000377675.3_Splice_Site	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTGGCCCACACCTTCTATGGT	0.652									Familial Hyperaldosteronism type I																													.											0													47.0	42.0	43.0					8																	143958438		2203	4300	6503	SO:0001630	splice_region_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.595+1G>A	8.37:g.143958438C>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Splice_Site	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	8.172	0.791801	0.16258	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	.	.	.	3.88	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9951	0.30263	0.0:0.8784:0.0:0.1216	.	.	.	.	.	-1	.	.	.	-	.	.	CYP11B1	143955440	1.000000	0.71417	0.709000	0.30452	0.058000	0.15608	5.368000	0.66133	0.917000	0.36895	-0.142000	0.14014	.		0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		Intron
C9orf72	203228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	27556771	27556771	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:27556771C>T	ENST00000380003.3	-	8	942	c.879G>A	c.(877-879)ctG>ctA	p.L293L	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	293					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCCGGAAAGGCAGCACAAAGC	0.363																																						.											0													127.0	120.0	122.0					9																	27556771		2203	4300	6503	SO:0001819	synonymous_variant	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.879G>A	9.37:g.27556771C>T			A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	CCDS6522.1																																																																																				0.363	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325	
XPNPEP2	7512	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	128886303	128886303	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:128886303C>T	ENST00000371106.3	+	10	1191	c.999C>T	c.(997-999)atC>atT	p.I333I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	333						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGTATGGGATCTATGAAATGA	0.512																																						.											0													121.0	100.0	107.0					X																	128886303		2203	4299	6502	SO:0001819	synonymous_variant	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.999C>T	X.37:g.128886303C>T			A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																				0.512	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	
GPR101	83550	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	136112626	136112626	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:136112626A>G	ENST00000298110.1	-	1	1207	c.1208T>C	c.(1207-1209)aTc>aCc	p.I403T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	403						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GAAAATGATGATGAAGATCAC	0.552																																						.											0													118.0	108.0	112.0					X																	136112626		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1208T>C	X.37:g.136112626A>G	ENSP00000298110:p.Ile403Thr		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189604	0.38707	.	.	ENSG00000165370	ENST00000298110	T	0.39406	1.08	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.916112	0.08872	N	0.881448	T	0.33789	0.0875	L	0.34521	1.04	0.29580	N	0.849237	B	0.32010	0.351	B	0.30943	0.122	T	0.32375	-0.9909	10	0.56958	D	0.05	-10.9714	7.6287	0.28226	0.9061:0.0:0.0939:0.0	.	403	Q96P66	GP101_HUMAN	T	403	ENSP00000298110:I403T	ENSP00000298110:I403T	I	-	2	0	GPR101	135940292	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.618000	0.54188	1.950000	0.56595	0.430000	0.28490	ATC		0.552	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
CYP2C9	1559	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	96748762	96748762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:96748762C>T	ENST00000260682.6	+	9	1462	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	484					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCCTTCTACCAGCTGTGCTT	0.498																																					Ovarian(54;1266 1406 16072 35076)	.											0													142.0	132.0	136.0					10																	96748762		2203	4300	6503	SO:0001587	stop_gained	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1450C>T	10.37:g.96748762C>T	ENSP00000260682:p.Gln484*		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Nonsense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034558	0.19590	.	.	ENSG00000138109	ENST00000260682	.	.	.	3.42	-6.84	0.01687	.	0.591503	0.15177	U	0.276321	.	.	.	.	.	.	0.37381	D	0.912041	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	3.6305	0.08130	0.4706:0.2525:0.1957:0.0813	.	.	.	.	X	484	.	ENSP00000260682:Q484X	Q	+	1	0	CYP2C9	96738752	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.646000	0.01998	-2.310000	0.00650	0.453000	0.30009	CAG		0.498	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
UBTD1	80019	hgsc.bcm.edu	37	10	99329915	99329915	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:99329915G>A	ENST00000370664.3	+	3	655	c.319G>A	c.(319-321)Gat>Aat	p.D107N	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	107										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAATGCTACGATGAGCTGGG	0.582																																					Pancreas(100;169 2668 32720)	.											0													91.0	103.0	99.0					10																	99329915		2203	4300	6503	SO:0001583	missense	80019			BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.319G>A	10.37:g.99329915G>A	ENSP00000359698:p.Asp107Asn		D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174620	0.94807	.	.	ENSG00000165886	ENST00000370664	T	0.80738	-1.41	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93167	0.6563	10	0.87932	D	0	-20.3796	18.6768	0.91531	0.0:0.0:1.0:0.0	.	107	Q9HAC8	UBTD1_HUMAN	N	107	ENSP00000359698:D107N	ENSP00000359698:D107N	D	+	1	0	UBTD1	99319905	1.000000	0.71417	0.968000	0.41197	0.946000	0.59487	9.813000	0.99286	2.687000	0.91594	0.655000	0.94253	GAT		0.582	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954	
DCLRE1A	9937	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	115609249	115609249	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:115609249G>A	ENST00000361384.2	-	2	2532	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.P539S	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	539	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGACCAGAAGGCAATATTTTC	0.383								Other identified genes with known or suspected DNA repair function																														.											0													125.0	127.0	126.0					10																	115609249		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1615C>T	10.37:g.115609249G>A	ENSP00000355185:p.Pro539Ser		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275052	0.23307	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.64991	-0.13;-0.13	5.18	2.31	0.28768	.	0.913298	0.09546	N	0.787542	T	0.53367	0.1792	L	0.56769	1.78	0.09310	N	1	B	0.24721	0.11	B	0.17979	0.02	T	0.41752	-0.9491	10	0.33141	T	0.24	-0.4037	5.248	0.15508	0.2294:0.0:0.6271:0.1435	.	539	Q6PJP8	DCR1A_HUMAN	S	539	ENSP00000355185:P539S;ENSP00000358311:P539S	ENSP00000355185:P539S	P	-	1	0	DCLRE1A	115599239	0.014000	0.17966	0.007000	0.13788	0.322000	0.28314	0.058000	0.14301	0.339000	0.23719	-0.302000	0.09304	CCT		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
SPEN	23013	hgsc.bcm.edu;ucsc.edu	37	1	16256119	16256119	+	Silent	SNP	C	C	T	rs140864111	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:16256119C>T	ENST00000375759.3	+	11	3588	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1128					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGAGAAGACGTTAGGAAAA	0.398													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22161	0.0		0.0	False		,,,				2504	0.0					.											0								C		9,4397	15.5+/-35.6	0,9,2194	38.0	39.0	39.0		3384	-2.2	0.2	1	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	SPEN	NM_015001.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1128/3665	16256119	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3384C>T	1.37:g.16256119C>T			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
GAL3ST3	89792	hgsc.bcm.edu;mdanderson.org	37	11	65811123	65811124	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:65811123_65811124AG>CT	ENST00000312006.4	-	3	431_432	c.150_151CT>AG	c.(148-153)agCTgc>agAGgc	p.50_51SC>RG	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.50_51SC>RG	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	50					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGAGGAGGGCAGCTCAAGGGGA	0.644																																						.											0																																										SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.150_151delinsCT	11.37:g.65811123_65811124delinsCT	ENSP00000308591:p.S50_C51delinsRG		Q14D05	Missense_Mutation	DNP	ENST00000312006.4	37	CCDS8128.1																																																																																				0.644	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
PFKL	5211	hgsc.bcm.edu	37	21	45744402	45744402	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr21:45744402C>T	ENST00000349048.4	+	17	1734	c.1679C>T	c.(1678-1680)tCg>tTg	p.S560L	PFKL_ENST00000403390.1_Missense_Mutation_p.S607L	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	560	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.S607L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGTCTGCCTCGGGGACCAAG	0.667																																						.											1	Substitution - Missense(1)	skin(1)											69.0	64.0	66.0					21																	45744402		2202	4300	6502	SO:0001583	missense	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1679C>T	21.37:g.45744402C>T	ENSP00000269848:p.Ser560Leu		Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282805	0.40394	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.77750	-1.12;-1.12	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.79805	2.47	0.46823	D	0.999219	B;D	0.60575	0.034;0.988	B;P	0.59171	0.023;0.853	D	0.85581	0.1240	10	0.48119	T	0.1	-12.4209	11.2359	0.48940	0.0:0.8136:0.1864:0.0	.	560;607	P17858;P17858-2	K6PL_HUMAN;.	L	560;353;607	ENSP00000269848:S560L;ENSP00000384038:S607L	ENSP00000269848:S560L	S	+	2	0	PFKL	44568830	0.753000	0.28349	0.971000	0.41717	0.412000	0.31113	2.861000	0.48380	1.852000	0.53769	0.467000	0.42956	TCG		0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		
GPR87	53836	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	151012813	151012813	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:151012813G>A	ENST00000260843.4	-	3	685	c.221C>T	c.(220-222)aCc>aTc	p.T74I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	74					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGAAGCTGGTTTTATTCCT	0.403																																						.											0													97.0	98.0	98.0					3																	151012813		2203	4300	6503	SO:0001583	missense	53836			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.221C>T	3.37:g.151012813G>A	ENSP00000260843:p.Thr74Ile		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662431	0.88251	.	.	ENSG00000138271	ENST00000260843	T	0.21361	2.01	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.066355	0.64402	D	0.000008	T	0.38295	0.1035	M	0.73430	2.235	0.58432	D	0.999991	P	0.47484	0.896	P	0.48598	0.583	T	0.32508	-0.9904	10	0.87932	D	0	-12.6765	19.3303	0.94283	0.0:0.0:1.0:0.0	.	74	Q9BY21	GPR87_HUMAN	I	74	ENSP00000260843:T74I	ENSP00000260843:T74I	T	-	2	0	GPR87	152495503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.248000	0.72418	2.632000	0.89209	0.655000	0.94253	ACC		0.403	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		
NOM1	64434	broad.mit.edu	37	7	156752565	156752567	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752565_156752567delGGC	ENST00000275820.3	+	4	1344_1346	c.1329_1331delGGC	c.(1327-1332)gaggca>gaa	p.A444del	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	444	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACTTTCTGGAGGCAGTGGTGAGG	0.448																																						.											0																																										SO:0001651	inframe_deletion	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1329_1331delGGC	7.37:g.156752565_156752567delGGC	ENSP00000275820:p.Ala444del		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.448	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
NOM1	64434	hgsc.bcm.edu	37	7	156752565	156752570	+	In_Frame_Del	DEL	GGCAGT	GGCAGT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GGCAGT	GGCAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752565_156752570delGGCAGT	ENST00000275820.3	+	4	1344_1349	c.1329_1334delGGCAGT	c.(1327-1335)gaggcagtg>gag	p.AV444del	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	444	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACTTTCTGGAGGCAGTGGTGAGGAAG	0.447																																						.											0																																										SO:0001651	inframe_deletion	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1329_1334delGGCAGT	7.37:g.156752565_156752570delGGCAGT	ENSP00000275820:p.Ala444_Val445del		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.447	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
NOM1	64434	broad.mit.edu	37	7	156752569	156752570	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752569_156752570delGT	ENST00000275820.3	+	4	1348_1349	c.1333_1334delGT	c.(1333-1335)gtgfs	p.V446fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	446	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCTGGAGGCAGTGGTGAGGAAG	0.45																																						.											0																																										SO:0001589	frameshift_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1333_1334delGT	7.37:g.156752569_156752570delGT	ENSP00000275820:p.Val446fs		Q96I08	Frame_Shift_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.450	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
SYT6	148281	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	114680520	114680520	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:114680520T>G	ENST00000610222.1	-	3	814	c.668A>C	c.(667-669)aAg>aCg	p.K223T	SYT6_ENST00000609117.1_Missense_Mutation_p.K138T|SYT6_ENST00000393296.1_Missense_Mutation_p.K223T|SYT6_ENST00000369547.1_Missense_Mutation_p.K138T|SYT6_ENST00000607941.1_Missense_Mutation_p.K138T			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	223					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCTCAGACTTGGCATCCTC	0.557																																						.											0													134.0	115.0	121.0					1																	114680520		2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.668A>C	1.37:g.114680520T>G	ENSP00000476396:p.Lys223Thr		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	T	15.72	2.917199	0.52546	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.56	5.56	0.83823	C2 calcium/lipid-binding domain, CaLB (1);	0.098347	0.64402	D	0.000002	T	0.04092	0.0114	L	0.39633	1.23	0.80722	D	1	B	0.13594	0.008	B	0.16289	0.015	T	0.30268	-0.9984	10	0.33940	T	0.23	.	15.72	0.77700	0.0:0.0:0.0:1.0	.	223	Q5T7P8	SYT6_HUMAN	T	138;223;138;223	ENSP00000358560:K138T;ENSP00000376974:K223T;ENSP00000358559:K138T;ENSP00000358558:K223T	ENSP00000358558:K223T	K	-	2	0	SYT6	114482043	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	8.017000	0.88712	2.117000	0.64856	0.533000	0.62120	AAG		0.557	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
KIAA1462	57608	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	30318485	30318485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:30318485G>A	ENST00000375377.1	-	3	693	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	198					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGACATCTGCCTCCCTAAT	0.483																																						.											0													192.0	191.0	191.0					10																	30318485		2072	4201	6273	SO:0001587	stop_gained	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.592C>T	10.37:g.30318485G>A	ENSP00000364526:p.Gln198*		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	37	6.049493	0.97236	.	.	ENSG00000165757	ENST00000375377	.	.	.	5.17	5.17	0.71159	.	0.474213	0.22270	N	0.062271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.556	13.6056	0.62046	0.0:0.0:0.8448:0.1552	.	.	.	.	X	198	.	ENSP00000364526:Q198X	Q	-	1	0	KIAA1462	30358491	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.033000	0.76504	2.401000	0.81631	0.655000	0.94253	CAG		0.483	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
LUZP2	338645	broad.mit.edu	37	11	24936024	24936024	+	Frame_Shift_Del	DEL	A	A	-	rs140841896		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:24936024delA	ENST00000336930.6	+	7	528	c.462delA	c.(460-462)tcafs	p.S154fs	LUZP2_ENST00000533227.1_Frame_Shift_Del_p.S68fs			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	154						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTTACAGTCAAAAAAAATCC	0.348																																						.											0										62,4202		28,6,2098	89.0	89.0	89.0			5.5	1.0	11		89	137,8117		63,11,4053	no	frameshift	LUZP2	NM_001009909.2		91,17,6151	A1A1,A1R,RR		1.6598,1.454,1.5897			24936024	199,12319	2203	4300	6503	SO:0001589	frameshift_variant	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.462delA	11.37:g.24936024delA	ENSP00000336817:p.Ser154fs		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Frame_Shift_Del	DEL	ENST00000336930.6	37	CCDS31446.1																																																																																				0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
GAL3ST3	89792	broad.mit.edu;bcgsc.ca	37	11	65811124	65811124	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:65811124G>T	ENST00000312006.4	-	3	431	c.150C>A	c.(148-150)agC>agA	p.S50R	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.S50R	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	50					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAGGAGGGCAGCTCAAGGGGA	0.647																																						.											0													19.0	16.0	17.0					11																	65811124		2171	4254	6425	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.150C>A	11.37:g.65811124G>T	ENSP00000308591:p.Ser50Arg		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056628	0.19907	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.16457	2.34;2.34	4.11	3.19	0.36642	.	0.458205	0.21075	N	0.080594	T	0.10121	0.0248	N	0.14661	0.345	0.32681	N	0.515536	B	0.33413	0.411	B	0.37198	0.243	T	0.13872	-1.0493	10	0.21540	T	0.41	-32.6987	9.5646	0.39391	0.1062:0.0:0.8938:0.0	.	50	Q96A11	G3ST3_HUMAN	R	50	ENSP00000308591:S50R;ENSP00000434829:S50R	ENSP00000308591:S50R	S	-	3	2	GAL3ST3	65567700	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.565000	0.53798	2.295000	0.77249	0.462000	0.41574	AGC		0.647	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
MMP12	4321	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	102737125	102737125	+	RNA	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:102737125A>C	ENST00000532855.1	-	0	1061							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GCCATAAGGAAGAAATTAAAT	0.353																																						.											0													72.0	75.0	74.0					11																	102737125		1822	4080	5902			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102737125A>C			B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37																																																																																					0.353	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
ALG10B	144245	broad.mit.edu	37	12	38714025	38714025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:38714025delT	ENST00000308742.4	+	3	748	c.432delT	c.(430-432)tatfs	p.Y144fs	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	144					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAACACTTTATTTTTTTAACT	0.318																																						.											0													68.0	74.0	72.0					12																	38714025		2203	4295	6498	SO:0001589	frameshift_variant	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.432delT	12.37:g.38714025delT	ENSP00000310120:p.Tyr144fs		B2RPF4	Frame_Shift_Del	DEL	ENST00000308742.4	37	CCDS31772.1																																																																																				0.318	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620	
SP2	6668	broad.mit.edu;mdanderson.org	37	17	46000417	46000417	+	Silent	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:46000417C>G	ENST00000376741.4	+	4	1286	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	383					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTAACACCACCTGTAGCAGCC	0.607																																						.											0													83.0	78.0	80.0					17																	46000417		2203	4300	6503	SO:0001819	synonymous_variant	6668				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1149C>G	17.37:g.46000417C>G			A6NK74	Silent	SNP	ENST00000376741.4	37	CCDS11521.2																																																																																				0.607	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110	
COL1A1	1277	broad.mit.edu;bcgsc.ca	37	17	48267232	48267232	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:48267232G>C	ENST00000225964.5	-	37	2719	c.2601C>G	c.(2599-2601)agC>agG	p.S867R		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	867	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGGGACCAGCGCTGCCGCGAG	0.652			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															.		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0													31.0	30.0	30.0					17																	48267232		2202	4299	6501	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2601C>G	17.37:g.48267232G>C	ENSP00000225964:p.Ser867Arg		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513412	0.44660	.	.	ENSG00000108821	ENST00000225964	D	0.93307	-3.2	5.41	-6.02	0.02192	.	0.616511	0.16164	N	0.226603	D	0.87253	0.6131	L	0.28458	0.855	0.23943	N	0.996394	B	0.27286	0.174	B	0.31751	0.135	T	0.69548	-0.5116	10	0.27785	T	0.31	.	16.3739	0.83378	0.8239:0.0:0.1761:0.0	.	867	P02452	CO1A1_HUMAN	R	867	ENSP00000225964:S867R	ENSP00000225964:S867R	S	-	3	2	COL1A1	45622231	0.000000	0.05858	0.430000	0.26722	0.774000	0.43823	-0.597000	0.05713	-1.245000	0.02513	0.313000	0.20887	AGC		0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
BAIAP2	10458	broad.mit.edu	37	17	79080558	79080558	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:79080558A>G	ENST00000321300.6	+	12	1444	c.1351A>G	c.(1351-1353)Aag>Gag	p.K451E	BAIAP2_ENST00000392411.3_Missense_Mutation_p.K373E|BAIAP2_ENST00000321280.7_Missense_Mutation_p.K451E|BAIAP2_ENST00000575712.1_Missense_Mutation_p.K451E|BAIAP2_ENST00000435091.3_Missense_Mutation_p.K451E|BAIAP2_ENST00000416299.2_Missense_Mutation_p.K314E|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K484E|BAIAP2_ENST00000428708.2_Missense_Mutation_p.K451E	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	451					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCAGCAAGGGAAGAGCAGCAG	0.706																																						.											0													59.0	59.0	59.0					17																	79080558		2202	4298	6500	SO:0001583	missense	10458			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1351A>G	17.37:g.79080558A>G	ENSP00000316338:p.Lys451Glu		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741905	0.49151	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.33438	1.85;1.86;1.41;1.41;1.86;1.42	4.69	4.69	0.59074	.	0.167559	0.51477	D	0.000086	T	0.21962	0.0529	L	0.39898	1.24	0.50467	D	0.99987	B;P;P;B;B;B;B;B;B	0.44627	0.411;0.515;0.839;0.06;0.029;0.227;0.099;0.068;0.029	B;B;B;B;B;B;B;B;B	0.35312	0.11;0.093;0.2;0.07;0.064;0.093;0.147;0.093;0.093	T	0.03829	-1.1000	10	0.22706	T	0.39	-23.9754	13.1745	0.59617	1.0:0.0:0.0:0.0	.	314;373;452;451;451;451;451;452;451	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	E	451;451;451;451;373;314	ENSP00000316338:K451E;ENSP00000401022:K451E;ENSP00000413069:K451E;ENSP00000315685:K451E;ENSP00000376211:K373E;ENSP00000391837:K314E	ENSP00000315685:K451E	K	+	1	0	BAIAP2	76695153	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	8.497000	0.90488	1.769000	0.52152	0.248000	0.18094	AAG		0.706	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1		
ZNF563	147837	broad.mit.edu	37	19	12433413	12433423	+	Frame_Shift_Del	DEL	TTCCTGATGGT	TTCCTGATGGT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TTCCTGATGGT	TTCCTGATGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12433413_12433423delTTCCTGATGGT	ENST00000293725.5	-	2	311_321	c.106_116delACCATCAGGAA	c.(106-117)accatcaggaacfs	p.TIRN36fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.TIRN36fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R38R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACAGTCCAGGTTCCTGATGGTTTCTTGCATC	0.417																																					GBM(39;623 795 5132 29510 31476)	.											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.106_116delACCATCAGGAA	19.37:g.12433413_12433423delTTCCTGATGGT	ENSP00000293725:p.Thr36fs		B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	CCDS12270.1																																																																																				0.417	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
PRDX2	7001	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	12911998	12911998	+	Silent	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12911998T>C	ENST00000301522.2	-	2	206	c.78A>G	c.(76-78)aaA>aaG	p.K26K	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Silent_p.K26K|PRDX2_ENST00000334482.5_Silent_p.K26K	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	26	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCTTCACCTCTTTGAAGGCGC	0.637																																						.											0													34.0	34.0	34.0					19																	12911998		2203	4300	6503	SO:0001819	synonymous_variant	7001				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.78A>G	19.37:g.12911998T>C			A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Silent	SNP	ENST00000301522.2	37	CCDS12281.1																																																																																				0.637	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809	
EPT1	85465	broad.mit.edu;mdanderson.org	37	2	26596325	26596325	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:26596325T>C	ENST00000260585.7	+	5	520	c.401T>C	c.(400-402)gTt>gCt	p.V134A		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	134					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										TGGTCATGTGTTTACTTTGTT	0.423																																						.											0													154.0	147.0	149.0					2																	26596325		1919	4133	6052	SO:0001583	missense	85465				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.401T>C	2.37:g.26596325T>C	ENSP00000260585:p.Val134Ala		Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.416932	0.62511	.	.	ENSG00000138018	ENST00000442141;ENST00000260585	T;T	0.43294	0.95;0.95	5.97	5.97	0.96955	.	0.213778	0.49305	D	0.000152	T	0.35364	0.0929	L	0.38953	1.18	0.58432	D	0.999994	P	0.35684	0.515	B	0.37387	0.248	T	0.10497	-1.0627	10	0.15952	T	0.53	0.0353	15.2692	0.73686	0.0:0.0:0.0:1.0	.	134	Q9C0D9	EPT1_HUMAN	A	102;134	ENSP00000415280:V102A;ENSP00000260585:V134A	ENSP00000260585:V134A	V	+	2	0	EPT1	26449829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.790000	0.85794	2.281000	0.76405	0.528000	0.53228	GTT		0.423	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2	
FOXN2	3344	broad.mit.edu	37	2	48602092	48602092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:48602092delA	ENST00000340553.3	+	7	1067	c.806delA	c.(805-807)caafs	p.Q269fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	269					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACAGCATTGCAAAAAAAGAGG	0.383																																						.											0													60.0	56.0	57.0					2																	48602092		2203	4300	6503	SO:0001589	frameshift_variant	3344				CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.806delA	2.37:g.48602092delA	ENSP00000343633:p.Gln269fs		Q15769|Q6P4Q2	Frame_Shift_Del	DEL	ENST00000340553.3	37	CCDS1838.1																																																																																				0.383	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158	
AFTPH	54812	broad.mit.edu	37	2	64779179	64779179	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:64779179A>G	ENST00000422803.1	+	2	885	c.571A>G	c.(571-573)Act>Gct	p.T191A	AFTPH_ENST00000409933.1_Missense_Mutation_p.T191A|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.T191A|AFTPH_ENST00000238856.4_Missense_Mutation_p.T191A			Q6ULP2	AFTIN_HUMAN	aftiphilin	191					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGTGTTGGAAACTGTAAATCC	0.408																																						.											0													98.0	92.0	94.0					2																	64779179		2203	4300	6503	SO:0001583	missense	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.571A>G	2.37:g.64779179A>G	ENSP00000397726:p.Thr191Ala		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	A	13.97	2.395228	0.42512	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.78	5.78	0.91487	.	0.060058	0.64402	D	0.000006	T	0.44912	0.1316	L	0.50333	1.59	0.29016	N	0.886606	D;D;D;D	0.67145	0.972;0.972;0.972;0.996	P;P;P;D	0.76071	0.673;0.673;0.673;0.987	T	0.43065	-0.9414	10	0.34782	T	0.22	-12.7051	8.3488	0.32290	0.7333:0.1436:0.0:0.1231	.	191;191;191;191	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	A	191	ENSP00000238856:T191A;ENSP00000397726:T191A;ENSP00000238855:T191A;ENSP00000387071:T191A	ENSP00000238855:T191A	T	+	1	0	AFTPH	64632683	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.826000	0.39092	2.333000	0.79357	0.482000	0.46254	ACT		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
PROM2	150696	broad.mit.edu	37	2	95944771	95944771	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:95944771A>G	ENST00000317620.9	+	10	1286	c.1153A>G	c.(1153-1155)Agg>Ggg	p.R385G	PROM2_ENST00000542147.1_Missense_Mutation_p.R385G|PROM2_ENST00000403131.2_Missense_Mutation_p.R385G|PROM2_ENST00000317668.4_Missense_Mutation_p.R385G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	385					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAAGGGGTGAGGACACTGGC	0.657																																						.											0													37.0	40.0	39.0					2																	95944771		2201	4300	6501	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1153A>G	2.37:g.95944771A>G	ENSP00000318270:p.Arg385Gly		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	A	9.663	1.144612	0.21288	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.94	2.51	0.30379	.	0.521662	0.19916	N	0.103189	T	0.37293	0.0998	L	0.54323	1.7	0.33255	D	0.558947	B	0.27013	0.166	B	0.28916	0.096	T	0.39057	-0.9632	10	0.27785	T	0.31	-10.1149	4.6092	0.12392	0.7015:0.1981:0.1004:0.0	.	385	Q8N271	PROM2_HUMAN	G	385	ENSP00000385716:R385G;ENSP00000318520:R385G;ENSP00000318270:R385G;ENSP00000442542:R385G	ENSP00000318270:R385G	R	+	1	2	PROM2	95308498	0.109000	0.22037	0.893000	0.35052	0.262000	0.26303	1.777000	0.38604	0.811000	0.34303	0.496000	0.49642	AGG		0.657	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707	
RIF1	55183	broad.mit.edu	37	2	152293790	152293790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:152293790delT	ENST00000243326.5	+	12	1891	c.1408delT	c.(1408-1410)tttfs	p.F471fs	RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000453091.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.F471fs			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAGCCCTTCCTTTTTTTCCAA	0.343																																						.											0													112.0	108.0	109.0					2																	152293790		2203	4300	6503	SO:0001589	frameshift_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1408delT	2.37:g.152293790delT	ENSP00000243326:p.Phe471fs		A0AVS0|Q9NS16	Frame_Shift_Del	DEL	ENST00000243326.5	37	CCDS2194.1																																																																																				0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
ARL4C	10123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	235404686	235404686	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:235404686C>T	ENST00000390645.2	-	1	1011	c.545G>A	c.(544-546)cGc>cAc	p.R182H	ARL4C_ENST00000339728.3_Missense_Mutation_p.R182H	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	182					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R182H(1)		endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGACTTCCTGCGTTTCAGGAT	0.587																																					Esophageal Squamous(157;1837 2534 13028 22831)	.											1	Substitution - Missense(1)	endometrium(1)											47.0	49.0	48.0					2																	235404686		1982	4166	6148	SO:0001583	missense	10123			AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.545G>A	2.37:g.235404686C>T	ENSP00000375057:p.Arg182His		Q4A519|Q53R10|Q9BVN1|Q9UQ34	Missense_Mutation	SNP	ENST00000390645.2	37	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243610	0.79912	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	D;D	0.82619	-1.63;-1.63	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	M	0.62016	1.91	0.51233	D	0.999917	D;D	0.71674	0.995;0.998	P;D	0.69479	0.84;0.964	D	0.90399	0.4401	10	0.72032	D	0.01	-13.4275	15.5234	0.75881	0.0:1.0:0.0:0.0	.	182;182	P56559;Q4A519	ARL4C_HUMAN;.	H	182	ENSP00000375057:R182H;ENSP00000339754:R182H	ENSP00000339754:R182H	R	-	2	0	ARL4C	235069425	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.544000	0.82117	2.066000	0.61787	0.557000	0.71058	CGC		0.587	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1		
GRM7	2917	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	7620544	7620544	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:7620544G>C	ENST00000357716.4	+	8	2225	c.1951G>C	c.(1951-1953)Gat>Cat	p.D651H	GRM7_ENST00000402647.2_Missense_Mutation_p.D651H|GRM7_ENST00000403881.1_Missense_Mutation_p.D651H|GRM7_ENST00000486284.1_Missense_Mutation_p.D651H|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.D651H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	651					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGCCAAACCAGATGTGGCAGT	0.478																																						.											0													136.0	128.0	131.0					3																	7620544		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1951G>C	3.37:g.7620544G>C	ENSP00000350348:p.Asp651His		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104349	0.37145	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.047392	0.85682	D	0.000000	D	0.87394	0.6166	N	0.21373	0.66	0.49483	D	0.999798	P;P;D;P;P	0.59357	0.46;0.527;0.985;0.582;0.483	P;P;P;P;P	0.54759	0.537;0.508;0.76;0.641;0.594	D	0.87304	0.2307	10	0.49607	T	0.09	.	13.197	0.59745	0.0762:0.0:0.9238:0.0	.	651;651;406;651;651	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	H	651	ENSP00000350348:D651H;ENSP00000417536:D651H;ENSP00000373987:D651H;ENSP00000385664:D651H;ENSP00000384585:D651H	ENSP00000350348:D651H	D	+	1	0	GRM7	7595544	1.000000	0.71417	0.292000	0.24919	0.286000	0.27126	4.229000	0.58625	2.826000	0.97356	0.655000	0.94253	GAT		0.478	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
ZNF445	353274	broad.mit.edu	37	3	44489837	44489837	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:44489837C>T	ENST00000396077.2	-	8	1673	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	ZNF445_ENST00000425708.2_Silent_p.G442G	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	442					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGCTGAAGCCCCCAATCATGT	0.463																																						.											0													135.0	137.0	136.0					3																	44489837		2203	4300	6503	SO:0001819	synonymous_variant	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1326G>A	3.37:g.44489837C>T			Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																				0.463	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
SCAP	22937	broad.mit.edu	37	3	47462126	47462126	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:47462126G>A	ENST00000265565.5	-	12	1893	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	SCAP_ENST00000441517.2_Missense_Mutation_p.S239F|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000545718.1_Missense_Mutation_p.S102F	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	494					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTTTCGGAAGGAAGACGGCTG	0.662											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)	.											0													61.0	60.0	60.0					3																	47462126		2203	4300	6503	SO:0001583	missense	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1481C>T	3.37:g.47462126G>A	ENSP00000265565:p.Ser494Phe	947	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290168	0.80914	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718;ENST00000383739	T;T;T	0.81415	-1.49;-1.47;0.66	5.03	5.03	0.67393	.	0.058967	0.64402	D	0.000002	T	0.72020	0.3409	L	0.47716	1.5	0.54753	D	0.999987	B;B	0.33583	0.418;0.06	B;B	0.26864	0.074;0.031	T	0.69942	-0.5008	10	0.08599	T	0.76	-33.3333	18.138	0.89627	0.0:0.0:1.0:0.0	.	239;494	F8W921;Q12770	.;SCAP_HUMAN	F	121;494;239;102;187	ENSP00000265565:S494F;ENSP00000416847:S239F;ENSP00000438956:S102F	ENSP00000265565:S494F	S	-	2	0	SCAP	47437130	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.349000	0.97066	2.629000	0.89072	0.462000	0.41574	TCC		0.662	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
ABI3BP	25890	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	100515270	100515270	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:100515270A>G	ENST00000284322.5	-	21	1899	c.1790T>C	c.(1789-1791)gTc>gCc	p.V597A	ABI3BP_ENST00000383691.4_Missense_Mutation_p.V551A|ABI3BP_ENST00000471714.1_Missense_Mutation_p.V1274A	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	597	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTCTGAGAGACCTCAGGGTA	0.328																																						.											0													71.0	67.0	68.0					3																	100515270		1799	4072	5871	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1790T>C	3.37:g.100515270A>G	ENSP00000284322:p.Val597Ala		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.55|14.55	2.569658|2.569658	0.45798|0.45798	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901;ENST00000527943|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000383691;ENST00000486770	.|T;T;T	.|0.56275	.|2.11;0.47;1.57	5.49|5.49	3.01|3.01	0.34805|0.34805	.|.	.|0.464387	.|0.21184	.|N	.|0.078775	T|T	0.44286|0.44286	0.1286|0.1286	L|L	0.58101|0.58101	1.795|1.795	0.23023|0.23023	N|N	0.99841|0.99841	.|P;B;P;P	.|0.47762	.|0.622;0.148;0.9;0.842	.|B;B;B;B	.|0.44224	.|0.152;0.089;0.444;0.366	T|T	0.29518|0.29518	-1.0009|-1.0009	5|10	.|0.11794	.|T	.|0.64	-0.6107|-0.6107	6.1652|6.1652	0.20386|0.20386	0.6701:0.1687:0.0:0.1612|0.6701:0.1687:0.0:0.1612	.|.	.|551;597;1274;281	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	P|A	653;177;103|1274;597;281;551;35	.|ENSP00000420524:V1274A;ENSP00000284322:V597A;ENSP00000373189:V551A	.|ENSP00000284322:V597A	S|V	-|-	1|2	0|0	ABI3BP|ABI3BP	101997960|101997960	0.434000|0.434000	0.25570|0.25570	0.924000|0.924000	0.36721|0.36721	0.935000|0.935000	0.57460|0.57460	0.985000|0.985000	0.29578|0.29578	0.336000|0.336000	0.23639|0.23639	0.477000|0.477000	0.44152|0.44152	TCT|GTC		0.328	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
MUC4	4585	broad.mit.edu;mdanderson.org	37	3	195510911	195510911	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:195510911G>A	ENST00000463781.3	-	2	7999	c.7540C>T	c.(7540-7542)Cct>Tct	p.P2514S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2514S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCGGTGACAGGTAGAGGGGTG	0.557																																						.											0													90.0	72.0	77.0					3																	195510911		661	1591	2252	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7540C>T	3.37:g.195510911G>A	ENSP00000417498:p.Pro2514Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	8.102	0.776829	0.16120	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.27402	1.73;1.67	.	.	.	.	.	.	.	.	T	0.14917	0.0360	N	0.19112	0.55	0.09310	N	0.999997	B	0.20459	0.045	B	0.13407	0.009	T	0.28170	-1.0052	7	.	.	.	.	3.2503	0.06812	0.362:0.0:0.638:0.0	.	2514	E7ESK3	.	S	2514	ENSP00000417498:P2514S;ENSP00000420243:P2514S	.	P	-	1	0	MUC4	196995306	0.070000	0.21116	0.000000	0.03702	0.000000	0.00434	0.780000	0.26760	-0.000000	0.14550	0.000000	0.15137	CCT		0.557	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
HIST1H2BD	3017	broad.mit.edu	37	6	26158611	26158611	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:26158611G>C	ENST00000289316.2	+	1	238	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E72Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	72					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CGACATCTTCGAGCGCATCGC	0.587																																						.											0													158.0	151.0	153.0					6																	26158611		2203	4300	6503	SO:0001583	missense	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.214G>C	6.37:g.26158611G>C	ENSP00000289316:p.Glu72Gln			Missense_Mutation	SNP	ENST00000289316.2	37	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.979084	0.74360	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.28454	1.61;1.61	5.19	4.3	0.51218	Histone-fold (2);Histone core (1);	0.000000	0.42053	D	0.000772	T	0.36580	0.0972	H	0.96576	3.845	0.43512	D	0.995777	B	0.15719	0.014	B	0.17979	0.02	T	0.53078	-0.8489	10	0.59425	D	0.04	.	12.7759	0.57448	0.0815:0.0:0.9185:0.0	.	72	P58876	H2B1D_HUMAN	Q	72	ENSP00000367008:E72Q;ENSP00000289316:E72Q	ENSP00000289316:E72Q	E	+	1	0	HIST1H2BD	26266590	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.909000	0.63314	1.494000	0.48533	0.650000	0.86243	GAG		0.587	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063	
MRPS18B	28973	broad.mit.edu	37	6	30594990	30594990	+	IGR	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:30594990A>G	ENST00000259873.4	+	0	1532				ATAT1_ENST00000376478.2_Intron|ATAT1_ENST00000330083.5_Missense_Mutation_p.T4A|ATAT1_ENST00000319027.5_Intron|ATAT1_ENST00000376485.4_Intron|ATAT1_ENST00000329992.8_Intron|ATAT1_ENST00000376483.4_Intron|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000318999.7_Intron	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B						translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GATGTGGTTGACCTGGCCTTT	0.532																																						.											0													79.0	80.0	79.0					6																	30594990		2116	4260	6376	SO:0001628	intergenic_variant	79969			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268		6.37:g.30594990A>G			A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555438	0.65425	.	.	ENSG00000137343	ENST00000330083	.	.	.	5.48	-1.04	0.10068	.	.	.	.	.	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.35325	-0.9793	7	.	.	.	.	0.9236	0.01320	0.3871:0.1635:0.2913:0.1581	.	4;4	B7Z4Q7;Q5SQI0-2	.;.	A	4	.	.	T	+	1	0	ATAT1	30702969	0.000000	0.05858	0.002000	0.10522	0.095000	0.18619	-0.083000	0.11286	0.167000	0.19631	0.533000	0.62120	ACC		0.532	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2		
PABPC1	26986	broad.mit.edu	37	8	101724626	101724627	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:101724626_101724627delTT	ENST00000318607.5	-	7	2063_2064	c.935_936delAA	c.(934-936)aaafs	p.K312fs	PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K280fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K267fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	312	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGAAAACTCTTTCCGGAGACG	0.307																																						.											0																																										SO:0001589	frameshift_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.935_936delAA	8.37:g.101724626_101724627delTT	ENSP00000313007:p.Lys312fs		Q15097|Q93004	Frame_Shift_Del	DEL	ENST00000318607.5	37	CCDS6289.1																																																																																				0.307	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	
RPP25L	138716	broad.mit.edu	37	9	34611014	34611014	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:34611014C>T	ENST00000297613.4	-	2	560	c.280G>A	c.(280-282)Gac>Aac	p.D94N	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.D94N	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	94						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ACCCAGCTGTCCTCAGTCTGA	0.647																																						.											0													61.0	51.0	55.0					9																	34611014		2203	4300	6503	SO:0001583	missense	138716			BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.280G>A	9.37:g.34611014C>T	ENSP00000297613:p.Asp94Asn		D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205854	0.95033	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.72	4.72	0.59763	.	0.105878	0.64402	D	0.000004	T	0.71921	0.3397	M	0.76938	2.355	0.52099	D	0.999945	D	0.55605	0.972	P	0.50136	0.632	T	0.78003	-0.2374	9	0.72032	D	0.01	-6.4208	16.8747	0.86048	0.0:1.0:0.0:0.0	.	94	Q8N5L8	CI023_HUMAN	N	94	.	ENSP00000297613:D94N	D	-	1	0	C9orf23	34601014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.004000	0.76317	2.448000	0.82819	0.643000	0.83706	GAC		0.647	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179	
ROR2	4920	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	94487339	94487339	+	Silent	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:94487339C>G	ENST00000375708.3	-	9	1635	c.1437G>C	c.(1435-1437)ctG>ctC	p.L479L	ROR2_ENST00000375715.1_Silent_p.L339L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCCTCTCCCAGCTCCTCCA	0.572																																						.											0													212.0	241.0	231.0					9																	94487339		2203	4300	6503	SO:0001819	synonymous_variant	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1437G>C	9.37:g.94487339C>G			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	CCDS6691.1																																																																																				0.572	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
GARNL3	84253	broad.mit.edu	37	9	130075815	130075815	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:130075815C>T	ENST00000373387.4	+	4	767	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	GARNL3_ENST00000314904.5_Missense_Mutation_p.R139C|GARNL3_ENST00000435213.2_Missense_Mutation_p.R117C	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	139					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CCCTCAATACCGTGCAATTCT	0.438																																						.											0													191.0	170.0	177.0					9																	130075815		2203	4300	6503	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.415C>T	9.37:g.130075815C>T	ENSP00000362485:p.Arg139Cys		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974827	0.74360	.	.	ENSG00000136895	ENST00000439286;ENST00000373399;ENST00000425970;ENST00000435213;ENST00000314904;ENST00000373387	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.76	4.82	0.62117	.	0.047395	0.85682	D	0.000000	D	0.96436	0.8837	M	0.77103	2.36	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.65874	0.939;0.912	D	0.95525	0.8598	9	.	.	.	.	12.6058	0.56523	0.2495:0.7504:0.0:0.0	.	139;117	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	C	162;162;117;117;139;139	ENSP00000400579:R162C;ENSP00000411329:R117C;ENSP00000396205:R117C;ENSP00000313970:R139C;ENSP00000362485:R139C	.	R	+	1	0	GARNL3	129115636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.574000	0.36482	2.871000	0.98454	0.655000	0.94253	CGT		0.438	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
CASC10	399726	broad.mit.edu	37	10	21784654	21784655	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:21784654_21784655insC	ENST00000377113.5	-	2	732_733	c.285_286insG	c.(283-288)gggcctfs	p.P96fs	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	96																	GGACGGTCAGGCCCGCCGCTAC	0.668											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001589	frameshift_variant	399726			BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 114"""	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.286dupG	10.37:g.21784657_21784657dupC	ENSP00000366317:p.Pro96fs	751	A1L4M3	Frame_Shift_Ins	INS	ENST00000377113.5	37	CCDS31163.1																																																																																				0.668	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047130.2	NM_001010911	
MUC5B	727897	broad.mit.edu	37	11	1271712	1271713	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1271712_1271713insC	ENST00000529681.1	+	31	13660_13661	c.13602_13603insC	c.(13603-13605)accfs	p.T4535fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.T4538fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4535	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCACCTGGACCCGCCTATC	0.624																																						.											0																																										SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		Exception_encountered	11.37:g.1271712_1271713insC	ENSP00000436812:p.Thr4535fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.624	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
PABPC1	26986	broad.mit.edu	37	8	101724623	101724624	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:101724623_101724624insA	ENST00000318607.5	-	7	2066_2067	c.938_939insT	c.(937-939)gagfs	p.E313fs	PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E281fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E268fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGGAGAAAACTCTTTCCGGAG	0.297																																						.											0																																										SO:0001589	frameshift_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.938_939insT	8.37:g.101724623_101724624insA	ENSP00000313007:p.Glu313fs		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	CCDS6289.1																																																																																				0.297	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	
C7orf57	136288	ucsc.edu	37	7	48080990	48080990	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:48080990T>C	ENST00000348904.3	+	3	327	c.115T>C	c.(115-117)Tcc>Ccc	p.S39P	C7orf57_ENST00000539619.1_Missense_Mutation_p.S39P|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.S84P|C7orf57_ENST00000420324.1_Missense_Mutation_p.S84P	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	39										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCACCAGCGTCCCAGATCCC	0.537																																						.											0													53.0	57.0	55.0					7																	48080990		1924	4144	6068	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.115T>C	7.37:g.48080990T>C	ENSP00000335500:p.Ser39Pro		C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292391	0.59976	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.84326	2.69	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	T	0.72544	-0.4261	10	0.87932	D	0	-19.8225	13.8893	0.63729	0.0:0.0:0.0:1.0	.	39	Q8NEG2	CG057_HUMAN	P	84;84;39;39	ENSP00000394648:S84P;ENSP00000410944:S84P;ENSP00000335500:S39P;ENSP00000442474:S39P	ENSP00000335500:S39P	S	+	1	0	C7orf57	48047515	0.999000	0.42202	0.905000	0.35620	0.156000	0.22039	4.996000	0.63914	2.156000	0.67533	0.460000	0.39030	TCC		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159	
CADM4	199731	ucsc.edu	37	19	44130965	44130965	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:44130965C>T	ENST00000222374.2	-	4	518	c.470G>A	c.(469-471)cGc>cAc	p.R157H	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	157	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCGGTACCAGCGCAGGGTGGC	0.647																																						.											0													58.0	67.0	63.0					19																	44130965		2202	4298	6500	SO:0001583	missense	199731			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.470G>A	19.37:g.44130965C>T	ENSP00000222374:p.Arg157His		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820780	0.71028	.	.	ENSG00000105767	ENST00000222374	T	0.76186	-1.0	5.48	5.48	0.80851	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	M	0.67625	2.065	0.52501	D	0.999958	D	0.89917	1.0	D	0.85130	0.997	D	0.84620	0.0683	10	0.46703	T	0.11	.	16.8373	0.85960	0.0:1.0:0.0:0.0	.	157	Q8NFZ8	CADM4_HUMAN	H	157	ENSP00000222374:R157H	ENSP00000222374:R157H	R	-	2	0	CADM4	48822805	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	6.171000	0.71926	2.560000	0.86352	0.591000	0.81541	CGC		0.647	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296	
DCLRE1C	64421	ucsc.edu;mdanderson.org;bcgsc.ca	37	10	14951197	14951197	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:14951197C>G	ENST00000378278.2	-	14	1326	c.1289G>C	c.(1288-1290)aGa>aCa	p.R430T	DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R310T|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R315T|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R315T|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.R310T|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R83T|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R310T|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R310T|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R315T|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R310T			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	430					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TGGGGTTTGTCTCAGTTTTTC	0.428								Non-homologous end-joining																														.											0													88.0	90.0	90.0					10																	14951197		2203	4300	6503	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1289G>C	10.37:g.14951197C>G	ENSP00000367527:p.Arg430Thr		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	C	3.260	-0.151372	0.06585	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T	0.75589	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.95;-0.41	5.73	-0.364	0.12553	.	0.988959	0.08284	N	0.969455	T	0.60327	0.2260	L	0.33485	1.01	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.12156	0.007;0.002	T	0.50775	-0.8788	10	0.56958	D	0.05	.	4.8617	0.13587	0.2243:0.4756:0.2203:0.0798	.	315;430	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	T	310;315;315;315;310;310;310;430;310;83	ENSP00000400529:R310T;ENSP00000367492:R315T;ENSP00000350349:R315T;ENSP00000367496:R315T;ENSP00000380030:R310T;ENSP00000367503:R310T;ENSP00000367502:R310T;ENSP00000367527:R430T;ENSP00000367506:R310T	ENSP00000350349:R315T	R	-	2	0	DCLRE1C	14991203	0.000000	0.05858	0.004000	0.12327	0.092000	0.18411	-0.318000	0.08050	0.031000	0.15407	0.650000	0.86243	AGA		0.428	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487	
GRIA4	2893	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	105776029	105776029	+	Splice_Site	SNP	T	T	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:105776029T>G	ENST00000530497.1	+	8	1158		c.e8+2		GRIA4_ENST00000393127.2_Splice_Site|GRIA4_ENST00000525187.1_Splice_Site|GRIA4_ENST00000393125.2_Splice_Site|GRIA4_ENST00000282499.5_Splice_Site|GRIA4_ENST00000428631.2_Splice_Site			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CCTAGAAAGGTGAGCCACGAT	0.383																																						.											0													105.0	96.0	99.0					11																	105776029		2202	4299	6501	SO:0001630	splice_region_variant	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1158+2T>G	11.37:g.105776029T>G			Q86XE8	Splice_Site	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.678395	0.88542	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3825	0.83473	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA4	105281239	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.624000	0.83124	2.323000	0.78572	0.529000	0.55759	.		0.383	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		Intron
NAPA	8775	ucsc.edu	37	19	47991552	47991552	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:47991552A>G	ENST00000263354.3	-	11	1180	c.881T>C	c.(880-882)cTg>cCg	p.L294P	NAPA_ENST00000595227.1_Missense_Mutation_p.L255P|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	294					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GGCTTAGCGCAGGTCCTCCTC	0.622																																					Ovarian(185;1135 2042 27703 31345 42493)	.											0													115.0	94.0	101.0					19																	47991552		2203	4300	6503	SO:0001583	missense	8775			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.881T>C	19.37:g.47991552A>G	ENSP00000263354:p.Leu294Pro		A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	37	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103146	0.56183	.	.	ENSG00000105402	ENST00000263354	T	0.49139	0.79	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	T	0.74711	0.3752	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81645	-0.0839	10	0.87932	D	0	-14.239	13.486	0.61366	1.0:0.0:0.0:0.0	.	294	P54920	SNAA_HUMAN	P	294	ENSP00000263354:L294P	ENSP00000263354:L294P	L	-	2	0	NAPA	52683364	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	8.750000	0.91623	2.015000	0.59207	0.533000	0.62120	CTG		0.622	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827	
TMUB2	79089	ucsc.edu;mdanderson.org	37	17	42268154	42268154	+	Silent	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:42268154C>T	ENST00000587989.1	+	4	1041	c.888C>T	c.(886-888)ttC>ttT	p.F296F	TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000319511.6_Silent_p.F276F|TMUB2_ENST00000538716.2_Silent_p.F296F|TMUB2_ENST00000589785.1_Silent_p.F276F|TMUB2_ENST00000357984.3_Silent_p.F276F|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000446571.3_Silent_p.F239F|TMUB2_ENST00000587172.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	296						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCCAATTCTTCACAGCACCTG	0.507																																						.											0													126.0	111.0	116.0					17																	42268154		2203	4300	6503	SO:0001819	synonymous_variant	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.888C>T	17.37:g.42268154C>T			B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	CCDS54134.1																																																																																				0.507	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441	
ABCA6	23460	mdanderson.org	37	17	67092895	67092895	+	Silent	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:67092895A>C	ENST00000284425.2	-	24	3342	c.3168T>G	c.(3166-3168)gcT>gcG	p.A1056A	ABCA6_ENST00000446604.2_5'UTR|MIR4524B_ENST00000581569.1_RNA	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1056					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CACACCAGTAAGCAGAAGTGT	0.333																																						.											0													34.0	38.0	36.0					17																	67092895		2203	4298	6501	SO:0001819	synonymous_variant	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3168T>G	17.37:g.67092895A>C			Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																				0.333	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCD1	215	mdanderson.org	37	X	153006092	153006093	+	Nonsense_Mutation	DNP	CA	CA	TG	rs201878013|rs201114595		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:153006092_153006093CA>TG	ENST00000218104.3	+	7	2098_2099	c.1699_1700CA>TG	c.(1699-1701)CAa>TGa	p.Q567*	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	567	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACATGCAAAGGAAGGGC	0.644																																						.											0			GRCh37	CM050985	ABCD1	M																																				SO:0001587	stop_gained	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	Exception_encountered	X.37:g.153006092_153006093delinsTG	ENSP00000218104:p.Gln567*		Q6GTZ2	Missense_Mutation	DNP	ENST00000218104.3	37	CCDS14728.1																																																																																				0.644	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	
CNTNAP3	79937	mdanderson.org	37	9	39177438	39177438	+	Silent	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:39177438G>A	ENST00000297668.6	-	6	877	c.804C>T	c.(802-804)gaC>gaT	p.D268D	CNTNAP3_ENST00000323947.7_Silent_p.D268D|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Silent_p.D268D|CNTNAP3_ENST00000377659.1_Silent_p.D268D|CNTNAP3_ENST00000358144.2_Silent_p.D180D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	268	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGTGCTGGTCGTCCAGCAGGC	0.502																																						.											0													71.0	65.0	67.0					9																	39177438		2203	4300	6503	SO:0001819	synonymous_variant	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.804C>T	9.37:g.39177438G>A			B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	CCDS6616.1																																																																																				0.502	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
FLG	2312	mdanderson.org	37	1	152284806	152284806	+	Silent	SNP	C	C	T	rs71625190		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:152284806C>T	ENST00000368799.1	-	3	2591	c.2556G>A	c.(2554-2556)agG>agA	p.R852R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	852	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGACCCCTGCCTTCCTCTTC	0.602									Ichthyosis																													.											0													334.0	330.0	331.0					1																	152284806		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2556G>A	1.37:g.152284806C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FRG1	2483	mdanderson.org	37	4	190878571	190878571	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:190878571G>A	ENST00000226798.4	+	6	673	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	151					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTTTGTTGGCCTCAAATAG	0.353																																						.											0													13.0	18.0	16.0					4																	190878571		2149	4265	6414	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.451G>A	4.37:g.190878571G>A	ENSP00000226798:p.Ala151Thr		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.048689	0.75846	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.51071	1.88;0.72	4.19	4.19	0.49359	Actin cross-linking (1);	0.051971	0.85682	D	0.000000	T	0.59756	0.2217	M	0.82193	2.58	0.80722	D	1	P	0.43519	0.809	P	0.49226	0.603	T	0.61836	-0.6981	10	0.27785	T	0.31	-16.5099	14.4711	0.67517	0.0:0.0:1.0:0.0	.	151	Q14331	FRG1_HUMAN	T	151;23;88	ENSP00000226798:A151T;ENSP00000435943:A88T	ENSP00000226798:A151T	A	+	1	0	FRG1	191115565	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.545000	0.98095	2.063000	0.61619	0.454000	0.30748	GCC		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
FSCN2	25794	mdanderson.org	37	17	79495969	79495969	+	Missense_Mutation	SNP	C	C	T	rs143796236	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr17:79495969C>T	ENST00000417245.2	+	1	548	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.H138Y	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	138					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGCCATCCACCCGCAGGC	0.716													C|||	8	0.00159744	0.0	0.0	5008	,	,		16925	0.0		0.007	False		,,,				2504	0.001					.											0								C	TYR/HIS,TYR/HIS	1,4181		0,1,2090	8.0	10.0	9.0		412,412	4.8	1.0	17	dbSNP_134	9	71,8275		0,71,4102	yes	missense,missense	FSCN2	NM_001077182.2,NM_012418.3	83,83	0,72,6192	TT,TC,CC		0.8507,0.0239,0.5747	probably-damaging,probably-damaging	138/517,138/493	79495969	72,12456	2091	4173	6264	SO:0001583	missense	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.412C>T	17.37:g.79495969C>T	ENSP00000388716:p.His138Tyr		A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	CCDS45811.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	26.6	4.751103	0.89753	2.39E-4	0.008507	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.24151	1.87;1.87	4.78	4.78	0.61160	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.75484	0.978;0.986	T	0.62704	-0.6798	10	0.87932	D	0	-21.2088	16.5597	0.84537	0.0:1.0:0.0:0.0	.	138;138	O14926;A8MRA6	FSCN2_HUMAN;.	Y	138	ENSP00000388716:H138Y;ENSP00000334665:H138Y	ENSP00000334665:H138Y	H	+	1	0	FSCN2	77110564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.216000	0.77974	2.169000	0.68431	0.411000	0.27672	CAC		0.716	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418	
HCN2	610	mdanderson.org	37	19	613898	613898	+	Silent	SNP	T	T	C	rs1054786	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:613898T>C	ENST00000251287.2	+	7	1925	c.1872T>C	c.(1870-1872)gcT>gcC	p.A624A	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	624					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGCGGGCTGACACCTACT	0.706													c|||	4115	0.821685	0.9796	0.7349	5008	,	,		4851	0.8958		0.5865	False		,,,				2504	0.8354				Melanoma(145;1175 2427 8056 36306)	.											0								C		4024,366		1851,322,22	28.0	29.0	28.0		1872	-7.7	0.6	19	dbSNP_86	28	4945,3649		1422,2101,774	no	coding-synonymous	HCN2	NM_001194.3		3273,2423,796	CC,CT,TT		42.4599,8.3371,30.9227		624/890	613898	8969,4015	2195	4297	6492	SO:0001819	synonymous_variant	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1872T>C	19.37:g.613898T>C			O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																				0.706	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194	
KIF26A	26153	mdanderson.org	37	14	104642341	104642341	+	Silent	SNP	A	A	G	rs2487304	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr14:104642341A>G	ENST00000423312.2	+	12	3216	c.3216A>G	c.(3214-3216)ccA>ccG	p.P1072P	KIF26A_ENST00000315264.7_Silent_p.P933P	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1072					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGTCCCGGCCAGTCAGCATCA	0.697													G|||	3898	0.778355	0.8306	0.7205	5008	,	,		14332	0.7897		0.7097	False		,,,				2504	0.8078					.											0								G		3234,646		1359,516,65	7.0	9.0	8.0		3216	-8.6	0.3	14	dbSNP_100	8	5992,2234		2221,1550,342	no	coding-synonymous	KIF26A	NM_015656.1		3580,2066,407	GG,GA,AA		27.1578,16.6495,23.7899		1072/1883	104642341	9226,2880	1940	4113	6053	SO:0001819	synonymous_variant	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3216A>G	14.37:g.104642341A>G			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
MACROD1	28992	mdanderson.org	37	11	63767186	63767186	+	Silent	SNP	A	A	G	rs709594	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:63767186A>G	ENST00000255681.6	-	6	780	c.714T>C	c.(712-714)agT>agC	p.S238S	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	238	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGCAGCCTGACTGGCGCTGG	0.726													G|||	2143	0.427915	0.736	0.2493	5008	,	,		10778	0.1379		0.4463	False		,,,				2504	0.4182					.											0								G		2959,1321		1069,821,250	10.0	13.0	12.0		714	3.8	1.0	11	dbSNP_86	12	3770,4672		906,1958,1357	no	coding-synonymous	MACROD1	NM_014067.3		1975,2779,1607	GG,GA,AA		44.6577,30.8645,47.1074		238/326	63767186	6729,5993	2140	4221	6361	SO:0001819	synonymous_variant	28992			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.714T>C	11.37:g.63767186A>G			Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																				0.726	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	
MUC16	94025	mdanderson.org	37	19	8999441	8999441	+	Silent	SNP	G	G	A	rs80293661		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:8999441G>A	ENST00000397910.4	-	56	40937	c.40734C>T	c.(40732-40734)atC>atT	p.I13578I	MUC16_ENST00000380951.5_Silent_p.I219I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13580	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGCTCAGTGATGCTGTGGG	0.572																																						.											0													233.0	195.0	208.0					19																	8999441		2056	4205	6261	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40734C>T	19.37:g.8999441G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.394273	0.01175	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.95	1.9	0.25705	.	.	.	.	.	T	0.37544	0.1007	.	.	.	.	.	.	.	.	.	.	.	.	T	0.42531	-0.9446	3	.	.	.	.	5.174	0.15126	0.1723:0.0:0.8277:0.0	.	.	.	.	L	418	.	.	S	-	2	0	MUC16	8860441	0.993000	0.37304	0.014000	0.15608	0.016000	0.09150	1.607000	0.36836	0.786000	0.33708	0.555000	0.69702	TCA		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC21	394263	mdanderson.org	37	6	30954921	30954921	+	Silent	SNP	C	C	G	rs548248760	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:30954921C>G	ENST00000376296.3	+	2	1210	c.969C>G	c.(967-969)acC>acG	p.T323T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	323	28 X 15 AA approximate tandem repeats.|Ser-rich.		T -> P (in dbSNP:rs41288679). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14574404}.		cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGCACAACCTCCAGTGGGG	0.627													c|||	32	0.00638978	0.0083	0.0144	5008	,	,		22635	0.001		0.005	False		,,,				2504	0.0051					.											0																																										SO:0001819	synonymous_variant	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.969C>G	6.37:g.30954921C>G			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																				0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909	
MUC4	4585	mdanderson.org	37	3	195505742	195505742	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:195505742G>C	ENST00000463781.3	-	2	13168	c.12709C>G	c.(12709-12711)Cac>Gac	p.H4237D	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4237D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	994					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4237D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.587																																						.											1	Substitution - Missense(1)	lung(1)											49.0	50.0	49.0					3																	195505742		2110	4203	6313	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12709C>G	3.37:g.195505742G>C	ENSP00000417498:p.His4237Asp		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	2.170	-0.390211	0.04932	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.30448	1.55;1.53	2.31	-0.661	0.11417	.	.	.	.	.	T	0.21841	0.0526	L	0.38175	1.15	0.09310	N	1	P;P	0.47604	0.797;0.898	B;B	0.43623	0.343;0.425	T	0.13019	-1.0525	8	.	.	.	.	4.9563	0.14041	0.5176:0.0:0.4824:0.0	.	4109;994	E7ESK3;Q99102	.;MUC4_HUMAN	D	4237;4237;963	ENSP00000417498:H4237D;ENSP00000420243:H4237D	.	H	-	1	0	MUC4	196990521	0.025000	0.19082	0.033000	0.17914	0.009000	0.06853	1.101000	0.31037	-0.196000	0.10366	-0.213000	0.12676	CAC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195507173	195507173	+	Missense_Mutation	SNP	G	G	A	rs200197178		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:195507173G>A	ENST00000463781.3	-	2	11737	c.11278C>T	c.(11278-11280)Cct>Tct	p.P3760S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3760S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAAGAAGAGGGGTGGCGTGA	0.602																																						.											0													23.0	21.0	21.0					3																	195507173		675	1586	2261	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11278C>T	3.37:g.195507173G>A	ENSP00000417498:p.Pro3760Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	1.460	-0.562718	0.03939	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.68181	1.14;-0.31	.	.	.	.	0.517672	0.10370	U	0.682961	T	0.44767	0.1309	N	0.19112	0.55	0.23386	N	0.997789	B	0.15141	0.012	B	0.01281	0.0	T	0.22103	-1.0226	8	.	.	.	.	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	3632	E7ESK3	.	S	3760	ENSP00000417498:P3760S;ENSP00000420243:P3760S	.	P	-	1	0	MUC4	196991952	0.002000	0.14202	0.086000	0.20670	0.073000	0.16967	-3.241000	0.00544	0.064000	0.16427	0.064000	0.15345	CCT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195511547	195511547	+	Missense_Mutation	SNP	C	C	T	rs74542179		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:195511547C>T	ENST00000463781.3	-	2	7363	c.6904G>A	c.(6904-6906)Gcc>Acc	p.A2302T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2302T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582																																						.											0													6.0	7.0	6.0					3																	195511547		538	1369	1907	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6904G>A	3.37:g.195511547C>T	ENSP00000417498:p.Ala2302Thr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	T	7.413	0.635047	0.14322	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35236	1.32;1.33	.	.	.	.	0.000000	0.25514	N	0.030158	T	0.09113	0.0225	N	0.02539	-0.55	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.15867	-1.0422	8	.	.	.	.	2.3143	0.04195	0.0:0.2712:0.2994:0.4294	.	2302	E7ESK3	.	T	2302	ENSP00000417498:A2302T;ENSP00000420243:A2302T	.	A	-	1	0	MUC4	196995942	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.991000	0.01478	-1.879000	0.01126	-2.088000	0.00374	GCC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC6	4588	mdanderson.org	37	11	1018262	1018262	+	Missense_Mutation	SNP	G	G	T	rs78003962		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1018262G>T	ENST00000421673.2	-	31	4589	c.4539C>A	c.(4537-4539)caC>caA	p.H1513Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1513	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAATGAGCTGTGGGCTTGGC	0.542																																						.											0													227.0	240.0	236.0					11																	1018262		2167	4262	6429	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4539C>A	11.37:g.1018262G>T	ENSP00000406861:p.His1513Gln		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.293037	0.00245	.	.	ENSG00000184956	ENST00000421673	T	0.16196	2.36	2.56	-5.11	0.02901	.	.	.	.	.	T	0.08758	0.0217	L	0.37630	1.12	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.38779	-0.9645	9	0.13108	T	0.6	.	2.1779	0.03866	0.2718:0.3724:0.2397:0.116	.	1513	Q6W4X9	MUC6_HUMAN	Q	1513	ENSP00000406861:H1513Q	ENSP00000406861:H1513Q	H	-	3	2	MUC6	1008262	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.824000	0.00747	-2.466000	0.00533	-4.769000	0.00003	CAC		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
OBSCN	84033	mdanderson.org;bcgsc.ca	37	1	228433197	228433197	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:228433197G>C	ENST00000422127.1	+	12	3609	c.3565G>C	c.(3565-3567)Gag>Cag	p.E1189Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.E1281Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1189Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1189	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGAGCTGTGAGGTGGCCCA	0.597																																						.											0													81.0	81.0	81.0					1																	228433197		2092	4205	6297	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3565G>C	1.37:g.228433197G>C	ENSP00000409493:p.Glu1189Gln		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	12.34	1.907297	0.33628	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66995	-0.24;-0.24	4.39	2.32	0.28847	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133963	0.49305	D	0.000157	T	0.74145	0.3678	L	0.45744	1.44	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.74348	0.963;0.983	T	0.74225	-0.3734	10	0.46703	T	0.11	.	13.6689	0.62412	0.0:0.2958:0.7042:0.0	.	1189;1189	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1189	ENSP00000284548:E1189Q;ENSP00000409493:E1189Q	ENSP00000284548:E1189Q	E	+	1	0	OBSCN	226499820	1.000000	0.71417	0.959000	0.39883	0.262000	0.26303	3.976000	0.56867	0.822000	0.34565	0.306000	0.20318	GAG		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OR2T27	403239	mdanderson.org	37	1	248813271	248813271	+	Silent	SNP	C	C	A	rs2802081	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:248813271C>A	ENST00000344889.3	-	1	914	c.915G>T	c.(913-915)gtG>gtT	p.V305V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACCTCCCCACAACCTTCT	0.443													c|||	332	0.0662939	0.025	0.0749	5008	,	,		20910	0.0615		0.1074	False		,,,				2504	0.0787					.											0													65.0	69.0	68.0					1																	248813271		2180	4274	6454	SO:0001819	synonymous_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.915G>T	1.37:g.248813271C>A				Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																				0.443	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824	
PLEC	5339	mdanderson.org	37	8	144996029	144996029	+	Missense_Mutation	SNP	A	A	G	rs7833924	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:144996029A>G	ENST00000322810.4	-	32	8540	c.8371T>C	c.(8371-8373)Tca>Cca	p.S2791P	PLEC_ENST00000345136.3_Missense_Mutation_p.S2654P|PLEC_ENST00000354958.2_Missense_Mutation_p.S2632P|PLEC_ENST00000398774.2_Missense_Mutation_p.S2622P|PLEC_ENST00000436759.2_Missense_Mutation_p.S2681P|PLEC_ENST00000356346.3_Missense_Mutation_p.S2640P|PLEC_ENST00000527096.1_Missense_Mutation_p.S2677P|PLEC_ENST00000354589.3_Missense_Mutation_p.S2654P|PLEC_ENST00000357649.2_Missense_Mutation_p.S2658P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2791	Globular 2.		S -> P (in dbSNP:rs7833924).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCTGAGCTGACACCTTCCGC	0.687													G|||	2337	0.466653	0.8775	0.3674	5008	,	,		16760	0.1429		0.4354	False		,,,				2504	0.3476					.											0								G	PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER	3507,739		1479,549,95	13.0	16.0	15.0		8041,7918,7894,8371,7864,7960,7972,7960	1.3	0.6	8	dbSNP_116	15	3635,4801		854,1927,1437	yes	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	74,74,74,74,74,74,74,74	2333,2476,1532	GG,GA,AA		43.0891,17.4046,43.684	benign,benign,benign,benign,benign,benign,benign,benign	2681/4575,2640/4534,2632/4526,2791/4685,2622/4516,2654/4548,2658/4552,2654/4548	144996029	7142,5540	2123	4218	6341	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8371T>C	8.37:g.144996029A>G	ENSP00000323856:p.Ser2791Pro		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	978	0.4478021978021978	423	0.8597560975609756	137	0.3784530386740331	94	0.16433566433566432	324	0.42744063324538256	G	9.708	1.156295	0.21454	0.825954	0.430891	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.16	1.26	0.21427	.	0.000000	0.64402	N	0.000006	T	0.00012	0.0000	N	0.05441	-0.05	0.46678	P	8.430000000000382E-4	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.42766	-0.9432	9	0.02654	T	1	.	3.6953	0.08361	0.4852:0.1979:0.317:0.0	rs7833924	2681;2640;2632;2791;2622;2654;2658;2654	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	2654;2658;2654;2622;2791;2632;2640;2681;2677	ENSP00000344848:S2654P;ENSP00000350277:S2658P;ENSP00000346602:S2654P;ENSP00000381756:S2622P;ENSP00000323856:S2791P;ENSP00000347044:S2632P;ENSP00000348702:S2640P;ENSP00000388180:S2681P;ENSP00000434583:S2677P	ENSP00000323856:S2791P	S	-	1	0	PLEC	145068017	0.803000	0.28956	0.551000	0.28230	0.791000	0.44710	0.441000	0.21611	0.147000	0.19030	-0.380000	0.06706	TCA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PPAPDC3	84814	mdanderson.org	37	9	134183379	134183379	+	Missense_Mutation	SNP	C	C	T	rs2966332	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr9:134183379C>T	ENST00000372264.3	+	2	825	c.521C>T	c.(520-522)aCg>aTg	p.T174M		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	174			T -> M (in dbSNP:rs2966332). {ECO:0000269|PubMed:15489334}.		negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCGTACGAGACGAGCCCCAGC	0.677													C|||	3122	0.623403	0.4047	0.6499	5008	,	,		15990	0.7252		0.7416	False		,,,				2504	0.6738					.											0								C	MET/THR	2051,2355	561.2+/-380.7	478,1095,630	53.0	47.0	49.0		521	3.5	0.9	9	dbSNP_101	49	6480,2120	710.7+/-405.8	2455,1570,275	yes	missense	PPAPDC3	NM_032728.3	81	2933,2665,905	TT,TC,CC		24.6512,46.5502,34.4072	benign	174/272	134183379	8531,4475	2203	4300	6503	SO:0001583	missense	84814			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.521C>T	9.37:g.134183379C>T	ENSP00000361338:p.Thr174Met		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	CCDS6942.1	1420	0.6501831501831502	208	0.42276422764227645	243	0.6712707182320442	413	0.722027972027972	556	0.7335092348284961	C	9.934	1.215704	0.22373	0.465502	0.753488	ENSG00000160539	ENST00000372264	T	0.75050	-0.9	4.68	3.5	0.40072	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.293233	0.40144	N	0.001179	T	0.00012	0.0000	N	0.02854	-0.475	0.09310	P	1.0	B	0.06786	0.001	B	0.06405	0.002	T	0.45934	-0.9227	9	0.30854	T	0.27	-33.1479	3.8455	0.08933	0.0:0.6576:0.0:0.3424	rs2966332;rs17845091;rs17857876;rs58914852;rs2966332	174	Q8NBV4	PPAC3_HUMAN	M	174	ENSP00000361338:T174M	ENSP00000361338:T174M	T	+	2	0	PPAPDC3	133173200	1.000000	0.71417	0.918000	0.36340	0.293000	0.27360	3.020000	0.49643	2.296000	0.77279	0.505000	0.49811	ACG		0.677	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728	
PRB2	653247	mdanderson.org	37	12	11546378	11546378	+	Missense_Mutation	SNP	G	G	A	rs200759746	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:11546378G>A	ENST00000389362.4	-	3	669	c.634C>T	c.(634-636)Cct>Tct	p.P212S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	212	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGACCTTGAGGTTTGTTGCCT	0.602													g|||	9	0.00179712	0.0	0.0014	5008	,	,		19017	0.004		0.001	False		,,,				2504	0.0031					.											0													68.0	88.0	82.0					12																	11546378		2052	4138	6190	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.634C>T	12.37:g.11546378G>A	ENSP00000374013:p.Pro212Ser		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.147	-1.095485	0.01858	.	.	ENSG00000121335	ENST00000389362	T	0.04015	3.73	1.23	-0.356	0.12583	.	0.674464	0.11286	U	0.579821	T	0.02929	0.0087	N	0.20530	0.585	0.09310	N	1	P	0.52061	0.95	P	0.45577	0.486	T	0.25606	-1.0127	10	0.07482	T	0.82	.	3.6218	0.08099	0.0:0.0:0.563:0.437	.	212	P02812	PRB2_HUMAN	S	212	ENSP00000374013:P212S	ENSP00000374013:P212S	P	-	1	0	PRB2	11437645	0.005000	0.15991	0.048000	0.18961	0.632000	0.37999	0.049000	0.14099	0.566000	0.29273	0.175000	0.17021	CCT		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
RIMBP3	85376	mdanderson.org	37	22	20457383	20457383	+	Missense_Mutation	SNP	G	G	T	rs199673858	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr22:20457383G>T	ENST00000426804.1	-	1	4403	c.3919C>A	c.(3919-3921)Cct>Act	p.P1307T	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1307				P -> T (in Ref. 4; AAH35246). {ECO:0000305}.						breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TTCTCCCCAGGCTGGTCACTG	0.582													g|||	482	0.096246	0.0635	0.1455	5008	,	,		12204	0.128		0.0805	False		,,,				2504	0.089					.											0								G	THR/PRO	79,2731		10,59,1336	26.0	28.0	28.0		3919	-6.4	0.0	22	dbSNP_134	28	171,6761		16,139,3311	no	missense	RIMBP3	NM_015672.1	38	26,198,4647	TT,TG,GG		2.4668,2.8114,2.5662	benign	1307/1640	20457383	250,9492	1405	3466	4871	SO:0001583	missense	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3919C>A	22.37:g.20457383G>T	ENSP00000391564:p.Pro1307Thr		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	CCDS46665.1	103	0.04716117216117216	10	0.02032520325203252	20	0.055248618784530384	41	0.07167832167832168	32	0.04221635883905013	G	9.207	1.029914	0.19512	0.028114	0.024668	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.16597	2.33	3.38	-6.4	0.01944	.	1.053850	0.07468	N	0.901812	T	0.00496	0.0016	N	0.24115	0.695	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.39563	-0.9608	10	0.11182	T	0.66	0.5061	1.52	0.02514	0.263:0.1812:0.4054:0.1503	.	1213	Q9UFD9	RIM3A_HUMAN	T	1213;1307	ENSP00000391564:P1307T	ENSP00000347318:P1213T	P	-	1	0	RIMBP3	18837383	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-1.468000	0.02350	-1.021000	0.03350	0.423000	0.28283	CCT		0.582	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672	
PRR5	55615	mdanderson.org	37	22	45132785	45132785	+	Silent	SNP	T	T	C	rs6006865	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr22:45132785T>C	ENST00000336985.6	+	8	1102	c.825T>C	c.(823-825)ggT>ggC	p.G275G	PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000006251.7_Silent_p.G266G|PRR5_ENST00000403581.1_Silent_p.G298G|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	275					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CGGCCGGCGGTACCAGCATCC	0.697													C|||	362	0.0722843	0.084	0.1167	5008	,	,		12728	0.0704		0.0308	False		,,,				2504	0.0695					.											0								C	,,,,,,	319,4049		6,307,1871	17.0	21.0	20.0		798,540,540,894,798,825,	4.4	0.0	22	dbSNP_114	20	249,8303		5,239,4032	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	PRR5,PRR5-ARHGAP8	NM_001017528.2,NM_001017529.2,NM_001017530.1,NM_001198721.1,NM_015366.3,NM_181333.3,NM_181334.4	,,,,,,	11,546,5903	CC,CT,TT		2.9116,7.3031,4.3963	,,,,,,	266/380,180/294,180/294,298/412,266/380,275/389,	45132785	568,12352	2184	4276	6460	SO:0001819	synonymous_variant	55615			AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.825T>C	22.37:g.45132785T>C			B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	CCDS14058.1	121	0.0554029304029304	32	0.06504065040650407	33	0.09116022099447514	37	0.06468531468531469	19	0.025065963060686015	C	2.996	-0.207184	0.06180	0.073031	0.029116	ENSG00000186654	ENST00000455389	.	.	.	5.41	4.39	0.52855	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.27874	P	0.9399136	.	.	.	.	.	.	T	0.34850	-0.9812	3	.	.	.	.	10.4463	0.44497	0.0:0.6788:0.2508:0.0704	rs6006865	.	.	.	A	235	.	.	V	+	2	0	PRR5	43511449	0.001000	0.12720	0.003000	0.11579	0.090000	0.18270	-0.032000	0.12266	0.672000	0.31204	-0.642000	0.03964	GTA		0.697	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528	
SCARA5	286133	mdanderson.org	37	8	27779545	27779545	+	Silent	SNP	C	C	T	rs10103504	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr8:27779545C>T	ENST00000354914.3	-	4	944	c.459G>A	c.(457-459)ctG>ctA	p.L153L	SCARA5_ENST00000524352.1_Silent_p.L153L|SCARA5_ENST00000518030.1_Silent_p.L110L|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.L110L	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	153					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCAGCCCCCACAGCGCGCCCT	0.721													C|||	2857	0.570487	0.3631	0.696	5008	,	,		12321	0.5843		0.6024	False		,,,				2504	0.7147					.											0								C		1840,2254		503,834,710	4.0	5.0	5.0		459	2.7	1.0	8	dbSNP_119	5	5071,2913		1733,1605,654	no	coding-synonymous	SCARA5	NM_173833.5		2236,2439,1364	TT,TC,CC		36.4855,44.9438,42.7803		153/496	27779545	6911,5167	2047	3992	6039	SO:0001819	synonymous_variant	286133			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.459G>A	8.37:g.27779545C>T			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																				0.721	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833	
SLC9B1	150159	mdanderson.org	37	4	103870578	103870578	+	Missense_Mutation	SNP	A	A	G	rs79959710	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:103870578A>G	ENST00000296422.7	-	4	359	c.218T>C	c.(217-219)aTa>aCa	p.I73T	SLC9B1_ENST00000394789.3_Missense_Mutation_p.I73T	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	73					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CACAAACAGTATAACTCCTGA	0.323																																						.											0													51.0	49.0	49.0					4																	103870578		2151	4281	6432	SO:0001583	missense	150159			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.218T>C	4.37:g.103870578A>G	ENSP00000296422:p.Ile73Thr		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	A	8.103	0.777074	0.16120	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000452285	T;T	0.19532	2.14;2.14	3.85	-0.0813	0.13703	.	1.453490	0.04415	N	0.366611	T	0.24198	0.0586	L	0.58583	1.82	0.09310	N	1	B;B	0.17038	0.02;0.01	B;B	0.18263	0.021;0.012	T	0.36939	-0.9727	10	0.44086	T	0.13	0.0195	9.4384	0.38653	0.3713:0.0:0.6287:0.0	.	73;73	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	T	73	ENSP00000378269:I73T;ENSP00000296422:I73T	ENSP00000296422:I73T	I	-	2	0	SLC9B1	104090027	0.001000	0.12720	0.002000	0.10522	0.173000	0.22820	1.267000	0.33050	-0.082000	0.12640	-0.451000	0.05528	ATA		0.323	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173	
SSX9	280660	mdanderson.org	37	X	48163717	48163717	+	RNA	SNP	C	C	T	rs3901052	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chrX:48163717C>T	ENST00000608568.1	-	0	215					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TGATTTTCTCCGAGGATTTCA	0.388													-|||	1203	0.318675	0.1172	0.2435	3775	,	,		16422	0.2351		0.4195	False		,,,				2504	0.2249					.											0								C		849,2986		79,571,120,982,451	135.0	111.0	119.0			-3.0	0.0	X	dbSNP_108	119	3795,2932		780,1188,1047,460,824	no	intergenic				859,1759,1167,1442,1275	TT,TC,T,CC,C		43.5856,22.1382,43.9689			48163717	4644,5918	2203	4299	6502			280660			BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48163717C>T				RNA	SNP	ENST00000608568.1	37																																																																																					0.388	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393	
TTBK1	84630	mdanderson.org	37	6	43251912	43251912	+	Missense_Mutation	SNP	A	A	G	rs3800297	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:43251912A>G	ENST00000259750.4	+	14	3517	c.3434A>G	c.(3433-3435)aAg>aGg	p.K1145R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1145			K -> R (in dbSNP:rs3800297). {ECO:0000269|PubMed:17344846}.		substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTGCCCAGGAAGAGCGGGAGG	0.701													A|||	1774	0.354233	0.5628	0.2176	5008	,	,		13619	0.3849		0.2247	False		,,,				2504	0.271					.											0								A	ARG/LYS	1190,1916		216,758,579	3.0	4.0	4.0		3434	4.1	0.2	6	dbSNP_107	4	1160,5396		106,948,2224	no	missense	TTBK1	NM_032538.1	26	322,1706,2803	GG,GA,AA		17.6937,38.3129,24.3221	possibly-damaging	1145/1322	43251912	2350,7312	1553	3278	4831	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3434A>G	6.37:g.43251912A>G	ENSP00000259750:p.Lys1145Arg		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	736	0.336996336996337	277	0.5630081300813008	84	0.23204419889502761	208	0.36363636363636365	167	0.22031662269129287	A	9.748	1.166668	0.21621	0.383129	0.176937	ENSG00000146216	ENST00000259750	T	0.53423	0.62	5.29	4.08	0.47627	.	0.172570	0.36778	N	0.002403	T	0.25306	0.0615	L	0.50333	1.59	0.09310	P	0.9999999999998821	B	0.14438	0.01	B	0.12156	0.007	T	0.11867	-1.0570	9	0.66056	D	0.02	.	11.146	0.48430	0.845:0.155:0.0:0.0	rs3800297;rs57009954	1145	Q5TCY1	TTBK1_HUMAN	R	1145	ENSP00000259750:K1145R	ENSP00000259750:K1145R	K	+	2	0	TTBK1	43359890	0.052000	0.20516	0.223000	0.23860	0.069000	0.16628	0.476000	0.22180	0.807000	0.34208	0.454000	0.30748	AAG		0.701	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
TBP	6908	mdanderson.org	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000230354.6_Silent_p.Q78Q|TBP_ENST00000540980.1_Silent_p.Q58Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577																																						.											0													13.0	18.0	16.0					6																	170871058		1927	3786	5713	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.234G>A	6.37:g.170871058G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
TYSND1	219743	mdanderson.org	37	10	71906150	71906150	+	Missense_Mutation	SNP	T	T	C	rs4746970	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr10:71906150T>C	ENST00000287078.6	-	1	192	c.193A>G	c.(193-195)Acc>Gcc	p.T65A	TYSND1_ENST00000335494.5_Missense_Mutation_p.T65A|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	65			T -> A (in dbSNP:rs4746970). {ECO:0000269|PubMed:15489334}.		protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGCCGCGGTCAGGACTTCG	0.726													T|||	1930	0.385383	0.1679	0.513	5008	,	,		13022	0.5327		0.4115	False		,,,				2504	0.41					.											0								T	ALA/THR,ALA/THR	733,3169		101,531,1319	7.0	8.0	8.0		193,193	2.6	0.0	10	dbSNP_111	8	2989,4601		673,1643,1479	yes	missense,missense	TYSND1	NM_001040273.1,NM_173555.2	58,58	774,2174,2798	CC,CT,TT		39.3808,18.7852,32.3877	benign,benign	65/399,65/567	71906150	3722,7770	1951	3795	5746	SO:0001583	missense	219743			BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.193A>G	10.37:g.71906150T>C	ENSP00000287078:p.Thr65Ala		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	CCDS31213.1	903	0.41346153846153844	77	0.1565040650406504	179	0.494475138121547	330	0.5769230769230769	317	0.4182058047493404	T	3.128	-0.179013	0.06380	0.187852	0.393808	ENSG00000156521	ENST00000287078;ENST00000335494	T;T	0.47177	0.85;0.85	4.98	2.59	0.31030	.	0.704604	0.13805	N	0.361502	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.42068	-0.9473	9	0.44086	T	0.13	-20.2145	2.3036	0.04168	0.2184:0.3024:0.0:0.4792	rs4746970;rs17854223	65;65	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	A	65	ENSP00000287078:T65A;ENSP00000335673:T65A	ENSP00000287078:T65A	T	-	1	0	TYSND1	71576156	0.001000	0.12720	0.030000	0.17652	0.297000	0.27493	0.483000	0.22292	0.905000	0.36596	0.418000	0.28097	ACC		0.726	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555	
WISP2	8839	mdanderson.org	37	20	43348735	43348735	+	Silent	SNP	C	C	A	rs2296530	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119					.											0								C		1905,2317		492,921,698	5.0	5.0	5.0		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839			AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A			B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																				0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881	
WWTR1	25937	mdanderson.org	37	3	149374873	149374873	+	Missense_Mutation	SNP	G	G	T	rs1055153	byFrequency	TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr3:149374873G>T	ENST00000465804.1	-	3	477	c.221C>A	c.(220-222)cCg>cAg	p.P74Q	WWTR1_ENST00000467467.1_Missense_Mutation_p.P74Q|WWTR1-AS1_ENST00000479752.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.P74Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	74					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCGAGGCCCCGGGTGGCCGCC	0.711			T	CAMTA1	epitheliod hemangioendothelioma								G|||	370	0.0738818	0.0582	0.0418	5008	,	,		12401	0.1478		0.0666	False		,,,				2504	0.0491					.		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0								G	GLN/PRO,GLN/PRO,GLN/PRO	230,4124		5,220,1952	7.0	8.0	8.0		221,221,221	5.1	1.0	3	dbSNP_86	8	553,7949		28,497,3726	no	missense,missense,missense	WWTR1	NM_001168278.1,NM_001168280.1,NM_015472.4	76,76,76	33,717,5678	TT,TG,GG		6.5044,5.2825,6.0905	probably-damaging,probably-damaging,probably-damaging	74/401,74/401,74/401	149374873	783,12073	2177	4251	6428	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.221C>A	3.37:g.149374873G>T	ENSP00000419465:p.Pro74Gln		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	159	0.07280219780219781	30	0.06097560975609756	14	0.03867403314917127	58	0.10139860139860139	57	0.07519788918205805	G	25.8	4.671276	0.88348	0.052825	0.065044	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352;ENST00000475579	T;T;T;T	0.45276	0.9;0.9;0.9;0.91	5.09	5.09	0.68999	.	0.076177	0.52532	D	0.000076	T	0.02380	0.0073	L	0.43152	1.355	0.09310	P	0.99999795331	D	0.76494	0.999	D	0.72625	0.978	T	0.02339	-1.1174	9	0.12103	T	0.63	-17.8884	18.1077	0.89525	0.0:0.0:1.0:0.0	rs1055153;rs3195644;rs1055153	74	Q9GZV5	WWTR1_HUMAN	Q	74	ENSP00000419465:P74Q;ENSP00000353847:P74Q;ENSP00000419234:P74Q;ENSP00000418580:P74Q	ENSP00000353847:P74Q	P	-	2	0	WWTR1	150857563	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.329000	0.65892	2.360000	0.80028	0.462000	0.41574	CCG		0.711	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472	
ZNF799	90576	mdanderson.org	37	19	12502998	12502998	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12502998C>T	ENST00000430385.3	-	4	414	c.214G>A	c.(214-216)Gtt>Att	p.V72I	ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.V72I|ZNF799_ENST00000419318.1_Missense_Mutation_p.V40I|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTACTTTCAACAAATCTCTCT	0.333																																						.											0													63.0	58.0	60.0					19																	12502998		2202	4280	6482	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.214G>A	19.37:g.12502998C>T	ENSP00000411084:p.Val72Ile			Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	1.357	-0.589722	0.03799	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07800	3.16;3.27	0.92	-1.84	0.07809	Krueppel-associated box (1);	.	.	.	.	T	0.03871	0.0109	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.40001	-0.9586	9	0.42905	T	0.14	.	2.6031	0.04871	0.5009:0.2585:0.0:0.2406	.	72	Q96GE5	ZN799_HUMAN	I	40;72	ENSP00000415278:V40I;ENSP00000411084:V72I	ENSP00000415278:V40I	V	-	1	0	ZNF799	12363998	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.148000	0.16224	-1.109000	0.02996	-0.719000	0.03609	GTT		0.333	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821	
EXOSC10	5394	bcgsc.ca	37	1	11151122	11151122	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:11151122A>G	ENST00000376936.4	-	5	641	c.592T>C	c.(592-594)Ttt>Ctt	p.F198L	EXOSC10_ENST00000304457.7_Missense_Mutation_p.F198L|EXOSC10_ENST00000544779.1_Missense_Mutation_p.F198L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	198					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTAGGAAGAAATGGTGTGTTG	0.393																																					Colon(179;105 1987 14326 27364 29542)	.											0													278.0	274.0	275.0					1																	11151122		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.592T>C	1.37:g.11151122A>G	ENSP00000366135:p.Phe198Leu		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	A	35	5.561878	0.96527	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.73	5.73	0.89815	Ribonuclease H-like (1);	0.045838	0.85682	D	0.000000	D	0.85835	0.5789	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.89086	0.3479	9	0.72032	D	0.01	-20.0071	15.4929	0.75624	1.0:0.0:0.0:0.0	.	198;198	Q01780-2;Q01780	.;EXOSX_HUMAN	L	198	.	ENSP00000307307:F198L	F	-	1	0	EXOSC10	11073709	1.000000	0.71417	0.916000	0.36221	0.994000	0.84299	9.062000	0.93920	2.308000	0.77769	0.533000	0.62120	TTT		0.393	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998	
CYP4X1	260293	bcgsc.ca	37	1	47498964	47498964	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr1:47498964T>C	ENST00000371901.3	+	4	666	c.416T>C	c.(415-417)cTa>cCa	p.L139P	CYP4X1_ENST00000538609.1_Missense_Mutation_p.L138P	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	139						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATCGTCGCCTACTAACTCCT	0.428																																						.											0													129.0	109.0	116.0					1																	47498964		2203	4300	6503	SO:0001583	missense	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.416T>C	1.37:g.47498964T>C	ENSP00000360968:p.Leu139Pro		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	CCDS544.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117048	0.77323	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.71579	-0.58;-0.58	5.91	5.91	0.95273	.	0.072152	0.56097	D	0.000024	D	0.88273	0.6392	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.91184	0.4978	10	0.87932	D	0	.	16.0082	0.80377	0.0:0.0:0.0:1.0	.	139;138	Q8N118;G3V1U1	CP4X1_HUMAN;.	P	138;139	ENSP00000445965:L138P;ENSP00000360968:L139P	ENSP00000360968:L139P	L	+	2	0	CYP4X1	47271551	0.997000	0.39634	0.430000	0.26722	0.672000	0.39443	7.370000	0.79589	2.262000	0.75019	0.482000	0.46254	CTA		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033	
MUC6	4588	bcgsc.ca	37	11	1016835	1016835	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:1016835A>G	ENST00000421673.2	-	31	6016	c.5966T>C	c.(5965-5967)tTc>tCc	p.F1989S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1989	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.F1989Y(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGTCTGGAAGGATGTTGC	0.567																																						.											2	Substitution - Missense(2)	lung(2)											1541.0	1526.0	1531.0					11																	1016835		2203	4299	6502	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5966T>C	11.37:g.1016835A>G	ENSP00000406861:p.Phe1989Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002866	0.35320	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	3.08	-0.788	0.10939	.	.	.	.	.	T	0.12390	0.0301	L	0.38531	1.155	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.41106	-0.9527	9	0.07644	T	0.81	.	6.7728	0.23602	0.4725:0.0:0.5275:0.0	.	1989	Q6W4X9	MUC6_HUMAN	S	1989	ENSP00000406861:F1989S	ENSP00000406861:F1989S	F	-	2	0	MUC6	1006835	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.386000	0.07370	-0.019000	0.14055	0.254000	0.18369	TTC		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
GAL3ST3	89792	bcgsc.ca	37	11	65811123	65811123	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr11:65811123A>C	ENST00000312006.4	-	3	432	c.151T>G	c.(151-153)Tgc>Ggc	p.C51G	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.C51G	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	51					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGAGGAGGGCAGCTCAAGGGG	0.647																																						.											0													19.0	17.0	17.0					11																	65811123		2171	4257	6428	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.151T>G	11.37:g.65811123A>C	ENSP00000308591:p.Cys51Gly		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.685604	0.29962	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.16743	2.32;2.32	4.11	2.89	0.33648	.	0.159133	0.40554	N	0.001062	T	0.13157	0.0319	L	0.43152	1.355	0.46376	D	0.999014	B	0.09022	0.002	B	0.14023	0.01	T	0.07309	-1.0779	10	0.23302	T	0.38	-49.325	8.9224	0.35619	0.8135:0.1865:0.0:0.0	.	51	Q96A11	G3ST3_HUMAN	G	51	ENSP00000308591:C51G;ENSP00000434829:C51G	ENSP00000308591:C51G	C	-	1	0	GAL3ST3	65567699	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	1.776000	0.38594	1.863000	0.54032	0.379000	0.24179	TGC		0.647	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
A2M	2	bcgsc.ca	37	12	9253745	9253745	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr12:9253745T>C	ENST00000318602.7	-	13	1860	c.1553A>G	c.(1552-1554)gAa>gGa	p.E518G		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	518					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CTCACTGTCTTCCTGCTTCAC	0.428																																						.											0													60.0	71.0	68.0					12																	9253745		1969	4151	6120	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1553A>G	12.37:g.9253745T>C	ENSP00000323929:p.Glu518Gly		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.476010	0.00165	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.64803	-0.12	4.93	-0.411	0.12370	Alpha-2-macroglobulin, N-terminal 2 (1);	0.997527	0.08122	N	0.994535	T	0.18467	0.0443	N	0.00099	-2.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31641	-0.9936	10	0.02654	T	1	.	8.7772	0.34769	0.0:0.4879:0.0:0.5121	.	518	P01023	A2MG_HUMAN	G	518;533	ENSP00000323929:E518G	ENSP00000323929:E518G	E	-	2	0	A2M	9145012	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.127000	0.10547	-0.243000	0.09653	-1.145000	0.01858	GAA		0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
ATG4D	84971	bcgsc.ca	37	19	10654987	10654987	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:10654987A>G	ENST00000309469.4	+	1	394	c.221A>G	c.(220-222)aAc>aGc	p.N74S	ATG4D_ENST00000540862.1_5'Flank	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	74	Cryptic mitochondrial signal peptide.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACAGCCTGGAACAACGTCAAG	0.652																																						.											0													9.0	7.0	8.0					19																	10654987		2016	3899	5915	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.221A>G	19.37:g.10654987A>G	ENSP00000311318:p.Asn74Ser		Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	a	17.69	3.452721	0.63290	.	.	ENSG00000130734	ENST00000309469	T	0.41758	0.99	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	T	0.55955	0.1953	M	0.78049	2.395	0.80722	D	1	D;D	0.63880	0.993;0.967	P;P	0.56163	0.793;0.792	T	0.57923	-0.7727	10	0.36615	T	0.2	-16.6651	11.7064	0.51599	1.0:0.0:0.0:0.0	.	74;74	B7ZAY9;Q86TL0	.;ATG4D_HUMAN	S	74	ENSP00000311318:N74S	ENSP00000311318:N74S	N	+	2	0	ATG4D	10515987	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	8.697000	0.91307	1.406000	0.46857	0.387000	0.25754	AAC		0.652	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
ZNF563	147837	bcgsc.ca	37	19	12433414	12433424	+	Frame_Shift_Del	DEL	TTCCTGATGGT	TTCCTGATGGT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	TTCCTGATGGT	TTCCTGATGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:12433414_12433424delTTCCTGATGGT	ENST00000293725.5	-	2	310_320	c.105_115delACCATCAGGAA	c.(103-117)gaaccatcaggaaacfs	p.PSGN36fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.PSGN36fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R38R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAGTCCAGGTTCCTGATGGTTTCTTGCATCA	0.417																																					GBM(39;623 795 5132 29510 31476)	.											1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.105_115delACCATCAGGAA	19.37:g.12433414_12433424delTTCCTGATGGT	ENSP00000293725:p.Pro36fs		B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	CCDS12270.1																																																																																				0.417	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
ZNF729	100287226	bcgsc.ca	37	19	22487573	22487573	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr19:22487573A>C	ENST00000601693.1	+	3	359	c.241A>C	c.(241-243)Act>Cct	p.T81P	ZNF729_ENST00000357491.6_Missense_Mutation_p.T81P			A6NN14	ZN729_HUMAN	zinc finger protein 729	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						TGAGATGGTAACTAAACCCCC	0.413																																						.											0																																										SO:0001583	missense	100287226				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.241A>C	19.37:g.22487573A>C	ENSP00000469582:p.Thr81Pro		M0QY45	Missense_Mutation	SNP	ENST00000601693.1	37	CCDS59368.1	.	.	.	.	.	.	.	.	.	.	.	4.007	-0.001427	0.07819	.	.	ENSG00000196350	ENST00000357491	T	0.06933	3.24	0.824	0.824	0.18818	.	.	.	.	.	T	0.04092	0.0114	N	0.11560	0.145	.	.	.	.	.	.	.	.	.	T	0.39683	-0.9602	6	0.30854	T	0.27	.	3.7153	0.08435	1.0:0.0:0.0:0.0	.	.	.	.	P	81	ENSP00000350085:T81P	ENSP00000350085:T81P	T	+	1	0	ZNF729	22279413	0.978000	0.34361	0.509000	0.27700	0.530000	0.34684	0.762000	0.26503	0.166000	0.19597	0.164000	0.16699	ACT		0.413	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464396.1	XM_496301	
RMND5A	64795	bcgsc.ca	37	2	86993084	86993084	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr2:86993084A>G	ENST00000283632.4	+	6	1286	c.791A>G	c.(790-792)gAc>gGc	p.D264G	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	264										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GATATCTGTGACATCTTTACA	0.483																																						.											0													170.0	145.0	154.0					2																	86993084		2203	4300	6503	SO:0001583	missense	64795			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.791A>G	2.37:g.86993084A>G	ENSP00000283632:p.Asp264Gly		D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629806	0.67015	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.42	5.42	0.78866	Ran binding protein-like, CRA domain (1);	0.136762	0.49916	D	0.000125	T	0.68869	0.3048	M	0.76838	2.35	0.58432	D	0.999999	B	0.33940	0.433	B	0.41946	0.371	T	0.66995	-0.5782	9	0.25751	T	0.34	-14.9569	15.5303	0.75956	1.0:0.0:0.0:0.0	.	264	Q9H871	RMD5A_HUMAN	G	264	.	ENSP00000283632:D264G	D	+	2	0	RMND5A	86846595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.074000	0.62210	0.529000	0.55759	GAC		0.483	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780	
FRG1	2483	bcgsc.ca	37	4	190878596	190878596	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr4:190878596G>A	ENST00000226798.4	+	6	698	c.476G>A	c.(475-477)tGc>tAc	p.C159Y	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	159					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C159Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTTATTAGATGCAATGAAGCA	0.368																																						.											1	Substitution - Missense(1)	lung(1)											24.0	26.0	25.0					4																	190878596		2173	4277	6450	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.476G>A	4.37:g.190878596G>A	ENSP00000226798:p.Cys159Tyr		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	9.077	0.998266	0.19043	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.42900	2.03;0.96	4.19	4.19	0.49359	Actin cross-linking (1);	0.048605	0.85682	D	0.000000	T	0.32912	0.0845	N	0.13140	0.3	0.44745	D	0.997744	P	0.42357	0.777	P	0.46850	0.529	T	0.07501	-1.0769	10	0.22706	T	0.39	-19.1697	14.4711	0.67517	0.0:0.0:1.0:0.0	.	159	Q14331	FRG1_HUMAN	Y	159;31;96	ENSP00000226798:C159Y;ENSP00000435943:C96Y	ENSP00000226798:C159Y	C	+	2	0	FRG1	191115590	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.069000	0.71209	2.063000	0.61619	0.454000	0.30748	TGC		0.368	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
MAP1B	4131	bcgsc.ca	37	5	71493198	71493198	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr5:71493198C>T	ENST00000296755.7	+	5	4314	c.4016C>T	c.(4015-4017)tCt>tTt	p.S1339F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1339					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TACTATCAATCTCCTACTGAC	0.458																																					Melanoma(17;367 822 11631 31730 47712)	.											0													68.0	67.0	68.0					5																	71493198		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4016C>T	5.37:g.71493198C>T	ENSP00000296755:p.Ser1339Phe		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234964	0.58886	.	.	ENSG00000131711	ENST00000296755	T	0.04406	3.63	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000007	T	0.15046	0.0363	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.01065	-1.1463	10	0.87932	D	0	-14.8862	19.877	0.96880	0.0:1.0:0.0:0.0	.	1213;1339	A2BDK6;P46821	.;MAP1B_HUMAN	F	1339	ENSP00000296755:S1339F	ENSP00000296755:S1339F	S	+	2	0	MAP1B	71528954	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.487000	0.81328	2.709000	0.92574	0.561000	0.74099	TCT		0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
NOM1	64434	bcgsc.ca	37	7	156752566	156752568	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752566_156752568delGGC	ENST00000275820.3	+	4	1345_1347	c.1330_1332delGGC	c.(1330-1332)ggcdel	p.G444del	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	444	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTTCTGGAGGCAGTGGTGAGGA	0.453																																						.											0																																										SO:0001651	inframe_deletion	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1330_1332delGGC	7.37:g.156752566_156752568delGGC	ENSP00000275820:p.Gly444del		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.453	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
NOM1	64434	bcgsc.ca	37	7	156752570	156752571	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-KN-8427-01A-11D-2310-10	TCGA-KN-8427-11A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	07e0e938-f61f-477a-92a2-5b7e74b78943	8c9e2ce1-0c90-49e7-a0ea-0ac0efcb7f6b	g.chr7:156752570_156752571delGT	ENST00000275820.3	+	4	1349_1350	c.1334_1335delGT	c.(1333-1335)ggtfs	p.G445fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	445	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGGAGGCAGTGGTGAGGAAGT	0.455																																						.											0																																										SO:0001589	frameshift_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1334_1335delGT	7.37:g.156752570_156752571delGT	ENSP00000275820:p.Gly445fs		Q96I08	Frame_Shift_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.455	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
