#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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
ADAM22	53616	hgsc.bcm.edu	37	7	87810862	87810862	+	Silent	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr7:87810862C>T	ENST00000265727.7	+	28	2530	c.2451C>T	c.(2449-2451)gaC>gaT	p.D817D	ADAM22_ENST00000398209.3_Silent_p.D781D|ADAM22_ENST00000398201.4_Silent_p.D817D|ADAM22_ENST00000315984.7_Silent_p.D781D|ADAM22_ENST00000398204.4_Silent_p.D781D			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	817					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGATTCCAGACACAAAACATA	0.378																																																	0			7											101.0	90.0	93.0					7																	87810862		1842	4099	5941	87648798	SO:0001819	synonymous_variant	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2451C>T	7.37:g.87810862C>T			87648798	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	5.881	0.346716	0.11126	.	.	ENSG00000008277	ENST00000413139	.	.	.	5.79	3.66	0.41972	.	.	.	.	.	T	0.62792	0.2457	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61608	-0.7028	4	.	.	.	.	12.0107	0.53286	0.0:0.7906:0.0:0.2094	.	.	.	.	Y	146	.	.	H	+	1	0	ADAM22	87648798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.952000	0.29149	1.441000	0.47550	0.655000	0.94253	CAC		0.378	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
CALCR	799	hgsc.bcm.edu	37	7	93055794	93055794	+	Silent	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr7:93055794C>T	ENST00000394441.1	-	13	1614	c.1299G>A	c.(1297-1299)gcG>gcA	p.A433A	CALCR_ENST00000360249.4_Silent_p.A449A|CALCR_ENST00000359558.2_Silent_p.A467A|CALCR_ENST00000426151.1_Silent_p.A433A|CALCR_ENST00000421592.1_Silent_p.A449A	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	467					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.A433A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CGCCAGCCTCCGCAGCAGCGG	0.582																																																	1	Substitution - coding silent(1)	pancreas(1)	7											96.0	97.0	97.0					7																	93055794		2203	4300	6503	92893730	SO:0001819	synonymous_variant	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1299G>A	7.37:g.93055794C>T			92893730	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	CCDS5631.1																																																																																				0.582	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
SOGA1	140710	hgsc.bcm.edu	37	20	35422061	35422061	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr20:35422061C>T	ENST00000357779.3	-	14	4036	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	SOGA1_ENST00000456801.2_Missense_Mutation_p.R1078H|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Missense_Mutation_p.R1475H			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1237					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGTGGTGGAGCGGGCCCAGGC	0.622																																																	0			20											15.0	20.0	19.0					20																	35422061		692	1591	2283	34855475	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.3710G>A	20.37:g.35422061C>T	ENSP00000350424:p.Arg1237His		34855475	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.200067	0.79015	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.36520	1.25;1.38;1.32	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.73962	2.25	0.58432	D	0.999998	.	.	.	.	.	.	T	0.62789	-0.6780	8	0.87932	D	0	-23.1653	16.6544	0.85224	0.0:1.0:0.0:0.0	.	.	.	.	H	1475;1078;1237	ENSP00000237536:R1475H;ENSP00000413886:R1078H;ENSP00000350424:R1237H	ENSP00000237536:R1475H	R	-	2	0	KIAA0889	34855475	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.874000	0.69652	2.472000	0.83506	0.561000	0.74099	CGC		0.622	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
BPI	671	hgsc.bcm.edu	37	20	36965562	36965562	+	Silent	SNP	C	C	T	rs145842777		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr20:36965562C>T	ENST00000262865.4	+	15	1529	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F		NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	480					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.F480F(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCTGCTGTTCGGTGCAGACG	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)	20						C		0,4406		0,0,2203	129.0	118.0	121.0		1440	-7.8	0.0	20	dbSNP_134	121	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	BPI	NM_001725.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		480/488	36965562	4,13002	2203	4300	6503	36398976	SO:0001819	synonymous_variant	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1440C>T	20.37:g.36965562C>T			36398976	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111742	0.06881	0.0	4.65E-4	ENSG00000101425	ENST00000417318	.	.	.	4.26	-7.8	0.01214	.	.	.	.	.	T	0.16811	0.0404	.	.	.	0.22366	N	0.999168	.	.	.	.	.	.	T	0.20405	-1.0276	4	.	.	.	-9.7201	2.825	0.05483	0.1145:0.1489:0.227:0.5096	.	.	.	.	L	306	.	.	S	+	2	0	BPI	36398976	0.033000	0.19621	0.009000	0.14445	0.063000	0.16089	-2.098000	0.01347	-1.741000	0.01344	-0.137000	0.14449	TCG		0.542	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	
MAPK1	5594	hgsc.bcm.edu	37	22	22160202	22160202	+	Silent	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr22:22160202A>G	ENST00000215832.6	-	3	617	c.429T>C	c.(427-429)gcT>gcC	p.A143A	MAPK1_ENST00000398822.3_Silent_p.A143A|MAPK1_ENST00000544786.1_Silent_p.A143A	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.A143A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCAGAACGTTAGCTGAATGGA	0.423																																																	1	Substitution - coding silent(1)	ovary(1)	22											204.0	184.0	191.0					22																	22160202		2203	4300	6503	20490202	SO:0001819	synonymous_variant	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.429T>C	22.37:g.22160202A>G			20490202	A8CZ64	Silent	SNP	ENST00000215832.6	37	CCDS13795.1																																																																																				0.423	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2		
KREMEN1	83999	hgsc.bcm.edu	37	22	29494867	29494867	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr22:29494867T>C	ENST00000407188.1	+	3	272	c.272T>C	c.(271-273)gTg>gCg	p.V91A	CTA-747E2.10_ENST00000456740.1_RNA|KREMEN1_ENST00000400335.4_Missense_Mutation_p.V93A|KREMEN1_ENST00000327813.5_Missense_Mutation_p.V93A|KREMEN1_ENST00000400338.2_Missense_Mutation_p.V93A			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	91	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GATGGAGACGTGAGCCCCTGG	0.438																																																	0			22											121.0	118.0	119.0					22																	29494867		1965	4147	6112	27824867	SO:0001583	missense	83999			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.272T>C	22.37:g.29494867T>C	ENSP00000385431:p.Val91Ala		27824867	B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532910	0.85812	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.97	4.97	0.65823	.	0.000000	0.53938	D	0.000058	T	0.66406	0.2786	L	0.28344	0.845	0.58432	D	0.999996	D;P	0.71674	0.998;0.849	D;B	0.77557	0.99;0.343	T	0.65364	-0.6186	10	0.34782	T	0.22	.	12.902	0.58130	0.0:0.0:0.0:1.0	.	93;93	Q96MU8-2;Q96MU8-3	.;.	A	93;93;93;91	ENSP00000383189:V93A;ENSP00000383192:V93A;ENSP00000331242:V93A;ENSP00000385431:V91A	ENSP00000331242:V93A	V	+	2	0	KREMEN1	27824867	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.122000	0.77169	2.010000	0.58986	0.528000	0.53228	GTG		0.438	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1		
RTN1	6252	hgsc.bcm.edu	37	14	60212780	60212780	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr14:60212780C>T	ENST00000267484.5	-	2	996	c.661G>A	c.(661-663)Gac>Aac	p.D221N		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	221					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCTTAAAGTCCAAGTCTTTA	0.443																																																	0			14											235.0	232.0	233.0					14																	60212780		2203	4300	6503	59282533	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.661G>A	14.37:g.60212780C>T	ENSP00000267484:p.Asp221Asn		59282533	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953151	0.53293	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.24151	1.87	5.7	4.81	0.61882	.	0.680304	0.14701	N	0.303554	T	0.31451	0.0797	M	0.67953	2.075	0.24045	N	0.996065	D	0.53151	0.958	P	0.45343	0.477	T	0.20940	-1.0260	10	0.12430	T	0.62	.	14.5442	0.68017	0.0:0.9293:0.0:0.0707	.	221	Q16799	RTN1_HUMAN	N	221;147	ENSP00000267484:D221N	ENSP00000267484:D221N	D	-	1	0	RTN1	59282533	0.486000	0.25980	0.995000	0.50966	0.857000	0.48899	2.274000	0.43390	1.400000	0.46741	0.557000	0.71058	GAC		0.443	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
TSHR	7253	hgsc.bcm.edu	37	14	81609338	81609338	+	Silent	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr14:81609338A>G	ENST00000541158.2	+	11	1258	c.936A>G	c.(934-936)agA>agG	p.R312R	TSHR_ENST00000298171.2_Silent_p.R312R|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	312					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGCGCCAGAGAAAATCTGTGA	0.493			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0			14											128.0	124.0	125.0					14																	81609338		2203	4300	6503	80679091	SO:0001819	synonymous_variant	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.936A>G	14.37:g.81609338A>G			80679091	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																				0.493	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
ABCA7	10347	hgsc.bcm.edu	37	19	1053334	1053334	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:1053334C>T	ENST00000263094.6	+	24	3458	c.3227C>T	c.(3226-3228)cCt>cTt	p.P1076L	ABCA7_ENST00000435683.2_Missense_Mutation_p.P938L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1076L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1076					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		ACAGGCACTCCTCAGCTGCTG	0.672																																																	0			19											18.0	17.0	17.0					19																	1053334		2196	4285	6481	1004334	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3227C>T	19.37:g.1053334C>T	ENSP00000263094:p.Pro1076Leu		1004334	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	9.263	1.043762	0.19748	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86366	-2.11;-2.11	4.36	1.7	0.24286	.	.	.	.	.	T	0.77805	0.4185	L	0.38838	1.175	0.09310	N	1	B;B	0.16396	0.0;0.017	B;B	0.14578	0.001;0.011	T	0.61950	-0.6957	9	0.25751	T	0.34	.	5.486	0.16749	0.0:0.6441:0.1991:0.1568	.	938;1076	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	1076	ENSP00000263094:P1076L;ENSP00000414062:P1076L	ENSP00000263094:P1076L	P	+	2	0	ABCA7	1004334	0.000000	0.05858	0.011000	0.14972	0.008000	0.06430	0.265000	0.18515	0.922000	0.37019	0.491000	0.48974	CCT		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
PTPRS	5802	hgsc.bcm.edu	37	19	5244269	5244269	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:5244269C>T	ENST00000587303.1	-	10	1312	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	PTPRS_ENST00000262963.6_Missense_Mutation_p.V401I|PTPRS_ENST00000588012.1_Missense_Mutation_p.V392I|PTPRS_ENST00000592099.1_Missense_Mutation_p.V392I|PTPRS_ENST00000372412.4_Missense_Mutation_p.V406I|PTPRS_ENST00000348075.2_Missense_Mutation_p.V392I|PTPRS_ENST00000353284.2_Missense_Mutation_p.V392I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V405I|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	405	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	ATGGAGTTGACGGCCGACACC	0.667																																																	0			19											53.0	47.0	49.0					19																	5244269		2203	4300	6503	5195269	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1213G>A	19.37:g.5244269C>T	ENSP00000467537:p.Val405Ile		5195269	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774337	0.31411	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	3.93	3.93	0.45458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.095040	0.41938	U	0.000784	T	0.67277	0.2876	M	0.77616	2.38	0.22591	N	0.998958	P;P;P;D;P;P	0.58970	0.56;0.723;0.588;0.984;0.939;0.92	B;B;B;P;P;B	0.50708	0.216;0.216;0.172;0.648;0.603;0.265	T	0.64037	-0.6501	10	0.42905	T	0.14	.	16.1378	0.81497	0.0:1.0:0.0:0.0	.	405;392;396;392;405;418	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	I	418;406;405;405;405;401;392;405;396;392	ENSP00000361489:V406I;ENSP00000349932:V405I;ENSP00000262963:V401I;ENSP00000269907:V392I;ENSP00000327313:V392I	ENSP00000262963:V401I	V	-	1	0	PTPRS	5195269	0.989000	0.36119	0.858000	0.33744	0.269000	0.26545	2.834000	0.48167	2.052000	0.61016	0.462000	0.41574	GTC		0.667	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
OR7C1	26664	hgsc.bcm.edu	37	19	14910584	14910584	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:14910584C>T	ENST00000248073.2	-	1	439	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	122					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GGCCACGAAGCGGTCATAGGC	0.493																																																	1	Substitution - Missense(1)	endometrium(1)	19											85.0	81.0	82.0					19																	14910584		2203	4300	6503	14771584	SO:0001583	missense	26664			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.365G>A	19.37:g.14910584C>T	ENSP00000248073:p.Arg122His		14771584	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	c	12.41	1.929879	0.34096	.	.	ENSG00000127530	ENST00000248073	T	0.77489	-1.1	3.64	-3.48	0.04739	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	U	0.001985	D	0.86493	0.5946	M	0.93507	3.425	0.20764	N	0.999856	D	0.89917	1.0	D	0.91635	0.999	T	0.76924	-0.2779	10	0.72032	D	0.01	.	4.6135	0.12415	0.1423:0.4912:0.0:0.3664	.	122	O76099	OR7C1_HUMAN	H	122	ENSP00000248073:R122H	ENSP00000248073:R122H	R	-	2	0	OR7C1	14771584	0.351000	0.24887	0.008000	0.14137	0.006000	0.05464	1.562000	0.36353	-0.620000	0.05641	-0.324000	0.08512	CGC		0.493	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1		
FCGBP	8857	hgsc.bcm.edu	37	19	40368553	40368553	+	Silent	SNP	C	C	T	rs554943335		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:40368553C>T	ENST00000221347.6	-	28	12802	c.12795G>A	c.(12793-12795)acG>acA	p.T4265T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4265	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCAGGGCACGTTGGGCAGG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		18375	0.0		0.0	False		,,,				2504	0.001																0			19											21.0	24.0	23.0					19																	40368553		2195	4257	6452	45060393	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12795G>A	19.37:g.40368553C>T			45060393	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
CCDC114	93233	hgsc.bcm.edu	37	19	48815355	48815355	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:48815355G>A	ENST00000315396.7	-	4	950	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	90					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTAAAGATCCGCGTCTCCCAC	0.488																																																	0			19											119.0	100.0	106.0					19																	48815355		692	1591	2283	53507167	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.268C>T	19.37:g.48815355G>A	ENSP00000318429:p.Arg90Trp		53507167	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	g	14.02	2.410386	0.42715	.	.	ENSG00000105479	ENST00000315396	T	0.30981	1.51	4.1	0.542	0.17174	.	.	.	.	.	T	0.35537	0.0935	N	0.24115	0.695	0.09310	N	1	D;D	0.76494	0.999;0.999	D;P	0.63488	0.915;0.859	T	0.28038	-1.0056	9	0.72032	D	0.01	-13.4719	10.0181	0.42027	0.0:0.0:0.4649:0.5351	.	90;90	Q96M63;Q96M63-5	CC114_HUMAN;.	W	90	ENSP00000318429:R90W	ENSP00000318429:R90W	R	-	1	2	CCDC114	53507167	0.020000	0.18652	0.001000	0.08648	0.063000	0.16089	1.530000	0.36007	0.001000	0.14605	-1.085000	0.02201	CGG		0.488	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577	
PRKCG	5582	hgsc.bcm.edu	37	19	54394940	54394940	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:54394940G>A	ENST00000263431.3	+	6	824	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PRKCG_ENST00000536044.1_Missense_Mutation_p.R181H|PRKCG_ENST00000542049.1_Missense_Mutation_p.R68H|PRKCG_ENST00000540413.1_Missense_Mutation_p.R181H	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	181	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCGAGGCCCGTAACCTAATT	0.542																																																	0			19											135.0	129.0	131.0					19																	54394940		2203	4300	6503	59086752	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.542G>A	19.37:g.54394940G>A	ENSP00000263431:p.Arg181His		59086752	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811604	0.70797	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.34	4.3	0.51218	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.73024	0.3534	L	0.46885	1.475	0.49915	D	0.99983	D;P;B;P;P	0.69078	0.997;0.47;0.433;0.526;0.563	P;B;B;B;B	0.55055	0.767;0.027;0.056;0.046;0.101	T	0.73471	-0.3972	9	0.45353	T	0.12	.	12.3369	0.55073	0.083:0.0:0.917:0.0	.	68;181;181;181;181	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	H	181;181;181;68	ENSP00000440541:R181H;ENSP00000443493:R181H;ENSP00000263431:R181H;ENSP00000438090:R68H	ENSP00000263431:R181H	R	+	2	0	PRKCG	59086752	0.750000	0.28316	0.870000	0.34147	0.647000	0.38526	3.353000	0.52247	1.399000	0.46721	0.561000	0.74099	CGT		0.542	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
HOOK3	84376	hgsc.bcm.edu	37	8	42819500	42819500	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr8:42819500A>G	ENST00000307602.4	+	9	862	c.662A>G	c.(661-663)cAg>cGg	p.Q221R		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	221			Q -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.Q221R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAGAGAATCAGGTATTAATG	0.433			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	1	Substitution - Missense(1)	breast(1)	8											127.0	123.0	125.0					8																	42819500		2203	4300	6503	42938657	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.662A>G	8.37:g.42819500A>G	ENSP00000305699:p.Gln221Arg		42938657	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235972	0.39498	.	.	ENSG00000168172	ENST00000307602	T	0.16897	2.31	5.93	5.93	0.95920	.	0.056213	0.64402	D	0.000001	T	0.29423	0.0733	L	0.40543	1.245	0.47698	D	0.999493	D;P	0.58268	0.982;0.889	P;P	0.59595	0.86;0.636	T	0.00970	-1.1496	10	0.27785	T	0.31	-4.8245	16.418	0.83748	1.0:0.0:0.0:0.0	.	221;221	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	R	221	ENSP00000305699:Q221R	ENSP00000305699:Q221R	Q	+	2	0	HOOK3	42938657	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.899000	0.92544	2.281000	0.76405	0.524000	0.50904	CAG		0.433	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
CSMD3	114788	hgsc.bcm.edu	37	8	113299452	113299452	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr8:113299452C>A	ENST00000297405.5	-	58	9416	c.9172G>T	c.(9172-9174)Gat>Tat	p.D3058Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D2988Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2889Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3018Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3058	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D3058N(1)		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						GTACCTGGATCGCCACATGTC	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Missense(1)	skin(1)	8											113.0	103.0	106.0					8																	113299452		2203	4300	6503	113368628	SO:0001583	missense	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.9172G>T	8.37:g.113299452C>A	ENSP00000297405:p.Asp3058Tyr		113368628	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188402	0.78789	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.22	5.22	0.72569	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.81484	0.4832	M	0.82923	2.615	0.58432	D	0.999999	D;P;D	0.89917	0.993;0.95;1.0	D;P;D	0.77004	0.92;0.858;0.989	D	0.83377	0.0010	10	0.59425	D	0.04	.	19.2093	0.93747	0.0:1.0:0.0:0.0	.	2889;3058;3018	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3018;3058;2328;2889;2988	ENSP00000345799:D3018Y;ENSP00000297405:D3058Y;ENSP00000341558:D2328Y;ENSP00000412263:D2889Y;ENSP00000343124:D2988Y	ENSP00000297405:D3058Y	D	-	1	0	CSMD3	113368628	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	7.583000	0.82559	2.614000	0.88457	0.644000	0.83932	GAT		0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
BAI1	575	hgsc.bcm.edu	37	8	143614774	143614774	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr8:143614774G>A	ENST00000517894.1	+	25	4411	c.3517G>A	c.(3517-3519)Gac>Aac	p.D1173N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1173N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1173					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D1173N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCTGTCTTCGACTCGCTGGA	0.672																																																	1	Substitution - Missense(1)	cervix(1)	8											35.0	44.0	41.0					8																	143614774		2196	4290	6486	143611776	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3517G>A	8.37:g.143614774G>A	ENSP00000430945:p.Asp1173Asn		143611776		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	17.97	3.517841	0.64634	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.39406	1.08;1.08	4.56	3.65	0.41850	.	0.064020	0.64402	U	0.000011	T	0.21227	0.0511	N	0.00102	-2.13	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.44360	-0.9333	10	0.06494	T	0.89	.	13.6407	0.62249	0.0:0.1567:0.8433:0.0	.	1173	E9PBK0	.	N	1173	ENSP00000430945:D1173N;ENSP00000313046:D1173N	ENSP00000313046:D1173N	D	+	1	0	BAI1	143611776	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	4.566000	0.60843	0.980000	0.38523	0.655000	0.94253	GAC		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702	
NPHP4	261734	hgsc.bcm.edu	37	1	5935031	5935031	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:5935031C>T	ENST00000378156.4	-	21	3212	c.2947G>A	c.(2947-2949)Gcc>Acc	p.A983T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	983					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGCGTGGCGTGGAGCGTG	0.632																																																	0			1											74.0	93.0	87.0					1																	5935031		2185	4269	6454	5857618	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2947G>A	1.37:g.5935031C>T	ENSP00000367398:p.Ala983Thr		5857618	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	17.58	3.424073	0.62733	.	.	ENSG00000131697	ENST00000378156	D	0.88124	-2.34	4.95	3.97	0.46021	.	0.327731	0.27088	N	0.020992	D	0.88280	0.6394	M	0.63843	1.955	0.40586	D	0.981446	D	0.64830	0.994	P	0.51055	0.657	D	0.88677	0.3199	10	0.44086	T	0.13	.	13.8589	0.63548	0.0:0.8464:0.1536:0.0	.	983	O75161	NPHP4_HUMAN	T	983	ENSP00000367398:A983T	ENSP00000367398:A983T	A	-	1	0	NPHP4	5857618	0.998000	0.40836	0.008000	0.14137	0.023000	0.10783	3.849000	0.55910	2.306000	0.77630	0.550000	0.68814	GCC		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
NECAP2	55707	hgsc.bcm.edu	37	1	16778357	16778357	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:16778357G>T	ENST00000337132.5	+	6	604	c.514G>T	c.(514-516)Gct>Tct	p.A172S	NECAP2_ENST00000443980.2_Missense_Mutation_p.A172S|NECAP2_ENST00000406746.1_Missense_Mutation_p.A172S|NECAP2_ENST00000457722.2_Missense_Mutation_p.A146S|NECAP2_ENST00000504551.2_Missense_Mutation_p.A111S	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	172					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGGAGCAGCTGGGAATCC	0.602																																																	0			1											65.0	75.0	71.0					1																	16778357		2203	4300	6503	16650944	SO:0001583	missense	55707			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.514G>T	1.37:g.16778357G>T	ENSP00000338746:p.Ala172Ser		16650944	B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	CCDS173.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596230	0.28445	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.40476	1.6;1.54;1.59;1.6;1.03;1.6	5.68	1.58	0.23477	.	0.514295	0.20526	N	0.090603	T	0.22166	0.0534	L	0.34521	1.04	0.09310	N	1	B;B;B	0.20988	0.01;0.05;0.015	B;B;B	0.19391	0.025;0.022;0.018	T	0.27706	-1.0066	10	0.05959	T	0.93	-1.0793	3.6119	0.08063	0.1509:0.1329:0.579:0.1373	.	146;172;172	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	S	172;111;146;172;172;172	ENSP00000338746:A172S;ENSP00000424509:A111S;ENSP00000407091:A146S;ENSP00000383925:A172S;ENSP00000391942:A172S;ENSP00000427620:A172S	ENSP00000338746:A172S	A	+	1	0	NECAP2	16650944	0.006000	0.16342	0.028000	0.17463	0.961000	0.63080	0.306000	0.19279	0.044000	0.15775	0.561000	0.74099	GCT		0.602	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090	
TAL1	6886	hgsc.bcm.edu	37	1	47685631	47685631	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:47685631G>A	ENST00000294339.3	-	4	1333	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	TAL1_ENST00000371883.3_Missense_Mutation_p.R255W|TAL1_ENST00000371884.2_Missense_Mutation_p.R253W|TAL1_ENST00000459729.1_5'UTR	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	253					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCTTGGCCCGCTGGGTGCCC	0.627			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																			Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0			1											19.0	19.0	19.0					1																	47685631		2203	4300	6503	47458218	SO:0001583	missense	6886			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.757C>T	1.37:g.47685631G>A	ENSP00000294339:p.Arg253Trp		47458218	D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609011	0.66558	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97850	-4.57;-4.57;-4.57	5.53	3.61	0.41365	Helix-loop-helix DNA-binding (1);	0.135229	0.46442	D	0.000296	D	0.97077	0.9045	L	0.27053	0.805	0.41023	D	0.985097	D	0.89917	1.0	D	0.66979	0.948	D	0.97102	0.9798	10	0.72032	D	0.01	.	13.6831	0.62499	0.0:0.0:0.4225:0.5775	.	253	P17542	TAL1_HUMAN	W	253;255;253	ENSP00000360951:R253W;ENSP00000360950:R255W;ENSP00000294339:R253W	ENSP00000294339:R253W	R	-	1	2	TAL1	47458218	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.269000	0.43346	0.661000	0.30985	-0.313000	0.08912	CGG		0.627	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189	
PLPPR4	9890	hgsc.bcm.edu	37	1	99753654	99753654	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:99753654C>A	ENST00000370185.3	+	2	853	c.356C>A	c.(355-357)gCa>gAa	p.A119E	LPPR4_ENST00000457765.1_Missense_Mutation_p.A119E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		119					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCCAGGAGGCAATTCCATTC	0.438																																																	0			1											159.0	150.0	153.0					1																	99753654		2203	4300	6503	99526242	SO:0001583	missense	9890																														ENST00000370185.3:c.356C>A	1.37:g.99753654C>A	ENSP00000359204:p.Ala119Glu		99526242	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007518	0.54361	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	T;T	0.14766	2.48;2.5	5.79	5.79	0.91817	.	0.577013	0.19675	N	0.108655	T	0.05777	0.0151	L	0.29908	0.895	0.36230	D	0.852593	P;B	0.37276	0.589;0.01	B;B	0.31101	0.124;0.028	T	0.36016	-0.9765	10	0.29301	T	0.29	-11.639	20.0243	0.97517	0.0:1.0:0.0:0.0	.	119;119	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	119	ENSP00000359204:A119E;ENSP00000394913:A119E	ENSP00000263178:A119E	A	+	2	0	RP4-788L13.1	99526242	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.857000	0.55972	2.727000	0.93392	0.557000	0.71058	GCA		0.438	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
FLG	2312	hgsc.bcm.edu	37	1	152280001	152280001	+	Missense_Mutation	SNP	G	G	A	rs553191250		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:152280001G>A	ENST00000368799.1	-	3	7396	c.7361C>T	c.(7360-7362)aCg>aTg	p.T2454M	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2454	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)			CTCTTGGGACGTTGAGTGCCT	0.582									Ichthyosis				g|||	1	0.000199681	0.0	0.0014	5008	,	,		21498	0.0		0.0	False		,,,				2504	0.0																0			1											342.0	313.0	323.0					1																	152280001		2203	4300	6503	150546625	SO:0001583	missense	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.7361C>T	1.37:g.152280001G>A	ENSP00000357789:p.Thr2454Met		150546625	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.362603	0.00212	.	.	ENSG00000143631	ENST00000368799	T	0.01787	4.64	2.63	-5.27	0.02763	.	.	.	.	.	T	0.00300	0.0009	N	0.22421	0.69	0.09310	N	1	B	0.22541	0.071	B	0.08055	0.003	T	0.46331	-0.9199	9	0.48119	T	0.1	.	1.5569	0.02586	0.1958:0.152:0.4016:0.2506	.	2454	P20930	FILA_HUMAN	M	2454	ENSP00000357789:T2454M	ENSP00000357789:T2454M	T	-	2	0	FLG	150546625	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.777000	0.00054	-5.537000	0.00013	-3.523000	0.00032	ACG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
SPTA1	6708	hgsc.bcm.edu	37	1	158612225	158612225	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:158612225A>C	ENST00000368147.4	-	33	4893	c.4713T>G	c.(4711-4713)tgT>tgG	p.C1571W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1571					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)					CATTGCCATCACAAGCGCTAC	0.448																																																	0			1											107.0	107.0	107.0					1																	158612225		1963	4169	6132	156878849	SO:0001583	missense	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.4713T>G	1.37:g.158612225A>C	ENSP00000357129:p.Cys1571Trp		156878849	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894413	0.33442	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.34667	1.35;1.36	5.26	-0.882	0.10604	.	0.000000	0.34750	N	0.003705	T	0.43986	0.1272	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46400	-0.9194	10	0.39692	T	0.17	.	10.6321	0.45543	0.564:0.0:0.436:0.0	.	1571	P02549	SPTA1_HUMAN	W	1571	ENSP00000357130:C1571W;ENSP00000357129:C1571W	ENSP00000357129:C1571W	C	-	3	2	SPTA1	156878849	0.995000	0.38212	0.922000	0.36590	0.005000	0.04900	0.379000	0.20585	-0.318000	0.08665	-0.256000	0.11100	TGT		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
HSD17B7	51478	hgsc.bcm.edu	37	1	162773313	162773313	+	Silent	SNP	G	G	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:162773313G>T	ENST00000254521.3	+	6	790	c.735G>T	c.(733-735)ccG>ccT	p.P245P	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Intron	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	245					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.P245P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TGTTGATGCCGGCAATATTGC	0.388																																																	1	Substitution - coding silent(1)	ovary(1)	1											122.0	107.0	112.0					1																	162773313		2203	4300	6503	161039937	SO:0001819	synonymous_variant	158160			AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.735G>T	1.37:g.162773313G>T			161039937	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Silent	SNP	ENST00000254521.3	37	CCDS1242.1																																																																																				0.388	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371	
MAEL	84944	hgsc.bcm.edu	37	1	166991080	166991080	+	Silent	SNP	T	T	C	rs559496772		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:166991080T>C	ENST00000367872.4	+	12	1537	c.1293T>C	c.(1291-1293)tcT>tcC	p.S431S	MAEL_ENST00000367870.2_Silent_p.S400S|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	431					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATCTTTCTCTTCCTTATCTT	0.363													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17657	0.0		0.0	False		,,,				2504	0.0																0			1											118.0	121.0	120.0					1																	166991080		2203	4300	6503	165257704	SO:0001819	synonymous_variant	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1293T>C	1.37:g.166991080T>C			165257704	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	CCDS1257.1																																																																																				0.363	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
ASTN1	460	hgsc.bcm.edu	37	1	176838106	176838106	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:176838106T>C	ENST00000367654.3	-	22	3756	c.3545A>G	c.(3544-3546)cAg>cGg	p.Q1182R	ASTN1_ENST00000361833.2_Missense_Mutation_p.Q1174R|ASTN1_ENST00000424564.2_Missense_Mutation_p.Q1174R|ASTN1_ENST00000367657.3_Missense_Mutation_p.Q1174R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1182					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTAGGCGGTCTGCTGCTCCTT	0.458																																																	0			1											149.0	136.0	140.0					1																	176838106		2203	4300	6503	175104729	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3545A>G	1.37:g.176838106T>C	ENSP00000356626:p.Gln1182Arg		175104729	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	T	19.18	3.777789	0.70107	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.18016	2.24;2.66;2.65;2.24	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	L	0.58101	1.795	0.80722	D	1	D;D	0.62365	0.991;0.978	P;P	0.53401	0.725;0.641	T	0.02789	-1.1110	10	0.87932	D	0	-25.3466	15.6389	0.76981	0.0:0.0:0.0:1.0	.	1174;1174	O14525-2;B1AJS1	.;.	R	1174;1174;1182;1174;1174	ENSP00000356629:Q1174R;ENSP00000354536:Q1174R;ENSP00000356626:Q1182R;ENSP00000395041:Q1174R	ENSP00000354536:Q1174R	Q	-	2	0	ASTN1	175104729	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	6.005000	0.70716	2.179000	0.69175	0.533000	0.62120	CAG		0.458	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
LYST	1130	hgsc.bcm.edu	37	1	235840882	235840882	+	Missense_Mutation	SNP	T	T	C	rs151167023		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:235840882T>C	ENST00000389794.3	-	49	11012	c.10838A>G	c.(10837-10839)tAt>tGt	p.Y3613C	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.Y3613C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3613					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.Y3613C(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTGTGACCATAGAGATGTAT	0.338																																																	1	Substitution - Missense(1)	ovary(1)	1						T	CYS/TYR	0,4406		0,0,2203	147.0	130.0	136.0		10838	5.7	1.0	1	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYST	NM_000081.2	194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	3613/3802	235840882	1,13005	2203	4300	6503	233907505	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10838A>G	1.37:g.235840882T>C	ENSP00000374444:p.Tyr3613Cys		233907505	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388862	0.82902	0.0	1.16E-4	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28895	1.59;1.59	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.33245	0.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46373	-0.9196	10	0.87932	D	0	.	15.9462	0.79796	0.0:0.0:0.0:1.0	.	3613	Q99698	LYST_HUMAN	C	3613	ENSP00000374444:Y3613C;ENSP00000374443:Y3613C	ENSP00000374443:Y3613C	Y	-	2	0	LYST	233907505	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.950000	0.87804	2.168000	0.68352	0.533000	0.62120	TAT		0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
NID1	4811	hgsc.bcm.edu	37	1	236144926	236144926	+	Missense_Mutation	SNP	G	G	A	rs533832624		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr1:236144926G>A	ENST00000264187.6	-	16	3294	c.3212C>T	c.(3211-3213)aCg>aTg	p.T1071M	NID1_ENST00000366595.3_Missense_Mutation_p.T938M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1071					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CACGGAATCCGTTACAATGCC	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19657	0.0		0.0	False		,,,				2504	0.0																0			1											90.0	90.0	90.0					1																	236144926		2203	4300	6503	234211549	SO:0001583	missense	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3212C>T	1.37:g.236144926G>A	ENSP00000264187:p.Thr1071Met		234211549	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097157	0.37048	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.29655	1.56;1.56	5.87	4.01	0.46588	Six-bladed beta-propeller, TolB-like (1);	0.410931	0.32041	N	0.006677	T	0.40196	0.1107	L	0.31664	0.95	0.09310	N	1	D;D	0.89917	0.998;1.0	P;D	0.73708	0.877;0.981	T	0.16247	-1.0409	10	0.72032	D	0.01	.	10.2347	0.43275	0.2266:0.0:0.7734:0.0	.	938;1071	P14543-2;P14543	.;NID1_HUMAN	M	1071;938	ENSP00000264187:T1071M;ENSP00000355554:T938M	ENSP00000264187:T1071M	T	-	2	0	NID1	234211549	0.731000	0.28111	0.089000	0.20774	0.091000	0.18340	4.120000	0.57897	0.821000	0.34540	0.650000	0.86243	ACG		0.483	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
OR51B4	79339	hgsc.bcm.edu	37	11	5322500	5322500	+	Missense_Mutation	SNP	G	G	A	rs116026654	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:5322500G>A	ENST00000380224.1	-	1	726	c.677C>T	c.(676-678)gCg>gTg	p.A226V	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	226					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A226V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTCCAGACGCAATGCCCAT	0.383													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		21374	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	11						G	VAL/ALA	41,4361	44.6+/-78.6	1,39,2161	88.0	81.0	83.0		677	2.6	1.0	11	dbSNP_132	83	0,8594		0,0,4297	yes	missense	OR51B4	NM_033179.2	64	1,39,6458	AA,AG,GG		0.0,0.9314,0.3155	benign	226/311	5322500	41,12955	2201	4297	6498	5279076	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.677C>T	11.37:g.5322500G>A	ENSP00000369573:p.Ala226Val		5279076	A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	CCDS7757.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	10.69	1.420861	0.25639	0.009314	0.0	ENSG00000183251	ENST00000380224	T	0.38722	1.12	4.41	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000160	T	0.28267	0.0698	M	0.77486	2.375	0.23581	N	0.997363	P	0.43578	0.811	B	0.41466	0.358	T	0.30736	-0.9968	10	0.72032	D	0.01	.	10.1836	0.42984	0.1508:0.0:0.8492:0.0	.	226	Q9Y5P0	O51B4_HUMAN	V	226	ENSP00000369573:A226V	ENSP00000369573:A226V	A	-	2	0	OR51B4	5279076	0.006000	0.16342	1.000000	0.80357	0.004000	0.04260	1.578000	0.36525	0.510000	0.28216	-0.732000	0.03574	GCG		0.383	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179	
SYT9	143425	hgsc.bcm.edu	37	11	7334966	7334966	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:7334966A>G	ENST00000318881.6	+	3	1075	c.838A>G	c.(838-840)Acc>Gcc	p.T280A	SYT9_ENST00000396716.2_Missense_Mutation_p.T248A	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	280	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCACAGAAAGACCCTGAACCC	0.433																																																	0			11											199.0	198.0	199.0					11																	7334966		2201	4296	6497	7291542	SO:0001583	missense	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.838A>G	11.37:g.7334966A>G	ENSP00000324419:p.Thr280Ala		7291542		Missense_Mutation	SNP	ENST00000318881.6	37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496461	0.85069	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.11495	2.77;2.77	6.17	6.17	0.99709	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.41604	0.1166	M	0.92784	3.345	0.80722	D	1	D	0.58620	0.983	D	0.64506	0.926	T	0.51849	-0.8653	9	.	.	.	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	280	Q86SS6	SYT9_HUMAN	A	248;280	ENSP00000379944:T248A;ENSP00000324419:T280A	.	T	+	1	0	SYT9	7291542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ACC		0.433	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
MYBPC3	4607	hgsc.bcm.edu	37	11	47350617	47350617	+	IGR	SNP	C	C	A	rs181428672	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:47350617C>A	ENST00000545968.1	-	0	4217				MADD_ENST00000349238.3_Silent_p.S1581S|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000311027.5_Silent_p.S1620S|MADD_ENST00000342922.4_Silent_p.S1561S|MADD_ENST00000402192.2_Silent_p.S1560S|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000395344.3_Silent_p.S1514S|MADD_ENST00000402799.1_Silent_p.S1518S|MADD_ENST00000407859.3_Silent_p.S1538S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S1620S(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTGCTACTCCGTATTATGTC	0.537																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	11											197.0	168.0	178.0					11																	47350617		2201	4298	6499	47307193	SO:0001628	intergenic_variant	8567			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896			11.37:g.47350617C>A			47307193	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	CCDS53621.1																																																																																				0.537	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
OR4S1	256148	hgsc.bcm.edu	37	11	48328640	48328640	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:48328640A>G	ENST00000319988.1	+	1	866	c.866A>G	c.(865-867)aAc>aGc	p.N289S		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N289I(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACACTAAGGAACAACGATGTG	0.453																																																	1	Substitution - Missense(1)	ovary(1)	11											96.0	88.0	91.0					11																	48328640		2201	4298	6499	48285216	SO:0001583	missense	256148			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.866A>G	11.37:g.48328640A>G	ENSP00000321447:p.Asn289Ser		48285216	Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818961	0.32145	.	.	ENSG00000176555	ENST00000319988	T	0.39997	1.05	5.02	5.02	0.67125	.	.	.	.	.	T	0.58264	0.2110	M	0.80847	2.515	0.27740	N	0.944509	D	0.61080	0.989	P	0.53401	0.725	T	0.58725	-0.7586	9	0.66056	D	0.02	.	12.9764	0.58540	1.0:0.0:0.0:0.0	.	289	Q8NGB4	OR4S1_HUMAN	S	289	ENSP00000321447:N289S	ENSP00000321447:N289S	N	+	2	0	OR4S1	48285216	0.970000	0.33590	0.379000	0.26080	0.079000	0.17450	2.445000	0.44899	2.020000	0.59435	0.533000	0.62120	AAC		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725	
SF1	7536	hgsc.bcm.edu	37	11	64544046	64544046	+	Silent	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:64544046T>C	ENST00000377390.3	-	2	421	c.84A>G	c.(82-84)gaA>gaG	p.E28E	SF1_ENST00000433274.2_Silent_p.E2E|SF1_ENST00000377387.1_Silent_p.E153E|SF1_ENST00000377394.3_Silent_p.E28E|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000227503.9_Silent_p.E28E|AP001462.6_ENST00000594089.1_lincRNA|SF1_ENST00000334944.5_Silent_p.E28E	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	28					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E28E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTGTCTTCTGTTCCATTGTGT	0.423																																																	1	Substitution - coding silent(1)	breast(1)	11											157.0	147.0	150.0					11																	64544046		2201	4297	6498	64300622	SO:0001819	synonymous_variant	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.84A>G	11.37:g.64544046T>C			64300622	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Silent	SNP	ENST00000377390.3	37	CCDS31599.1																																																																																				0.423	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
C11orf30	56946	hgsc.bcm.edu	37	11	76174958	76174958	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:76174958A>G	ENST00000529032.1	+	6	665	c.665A>G	c.(664-666)aAg>aGg	p.K222R	C11orf30_ENST00000533248.1_Missense_Mutation_p.K236R|C11orf30_ENST00000524767.1_Missense_Mutation_p.K237R|C11orf30_ENST00000334736.3_Missense_Mutation_p.K222R|C11orf30_ENST00000524490.1_Missense_Mutation_p.K223R|C11orf30_ENST00000525038.1_Missense_Mutation_p.K237R|C11orf30_ENST00000343878.3_Missense_Mutation_p.K222R|C11orf30_ENST00000525919.1_Missense_Mutation_p.K223R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	222	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K222M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAAGTTCCAAAGGCCGTTGTT	0.483																																																	1	Substitution - Missense(1)	ovary(1)	11											184.0	182.0	183.0					11																	76174958		2200	4292	6492	75852606	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.665A>G	11.37:g.76174958A>G	ENSP00000432327:p.Lys222Arg		75852606	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436807	0.62955	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.62	4.5	0.54988	.	0.044831	0.85682	N	0.000000	T	0.47655	0.1457	L	0.29908	0.895	0.58432	D	0.999997	B;B;B;D;B;D;B;D	0.67145	0.009;0.024;0.024;0.996;0.099;0.993;0.024;0.993	B;B;B;D;B;D;B;D	0.72982	0.007;0.012;0.012;0.979;0.041;0.953;0.012;0.953	T	0.29212	-1.0019	10	0.20519	T	0.43	-4.0501	11.2765	0.49170	0.929:0.0:0.071:0.0	.	236;237;237;222;172;223;223;222	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	R	223;222;222;172;237;236;223;237;222	ENSP00000431166:K223R;ENSP00000334130:K222R;ENSP00000344688:K222R;ENSP00000433205:K237R;ENSP00000433634:K236R;ENSP00000432010:K223R;ENSP00000436968:K237R;ENSP00000432327:K222R	ENSP00000334130:K222R	K	+	2	0	C11orf30	75852606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.173000	0.77612	0.972000	0.38314	0.460000	0.39030	AAG		0.483	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193	
PICALM	8301	hgsc.bcm.edu	37	11	85733487	85733487	+	Silent	SNP	C	C	T	rs200363412		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:85733487C>T	ENST00000393346.3	-	4	523	c.375G>A	c.(373-375)agG>agA	p.R125R	PICALM_ENST00000528398.1_Silent_p.R74R|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Silent_p.R125R|PICALM_ENST00000356360.5_Silent_p.R125R|PICALM_ENST00000526033.1_Silent_p.R125R			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	125	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TACTATACCGCCTAATAAATG	0.299			T	"""MLLT10, MLL"""	"""TALL, AML, """																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0			11											87.0	91.0	89.0					11																	85733487		2202	4292	6494	85411135	SO:0001819	synonymous_variant	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.375G>A	11.37:g.85733487C>T			85411135	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	CCDS8272.1																																																																																				0.299	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	
GRIA4	2893	hgsc.bcm.edu	37	11	105797501	105797501	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:105797501T>C	ENST00000530497.1	+	12	1882	c.1882T>C	c.(1882-1884)Tgg>Cgg	p.W628R	GRIA4_ENST00000525187.1_Missense_Mutation_p.W628R|GRIA4_ENST00000282499.5_Missense_Mutation_p.W628R|GRIA4_ENST00000393127.2_Missense_Mutation_p.W628R			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	628					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)		AGGTGTTTGGTGGTTCTTTAC	0.393																																																	0			11											139.0	139.0	139.0					11																	105797501		2202	4298	6500	105302711	SO:0001583	missense	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.1882T>C	11.37:g.105797501T>C	ENSP00000435775:p.Trp628Arg		105302711	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579226	0.86645	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.6	5.6	0.85130	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000003	T	0.82033	0.4949	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88285	0.2939	10	0.87932	D	0	.	16.0858	0.81049	0.0:0.0:0.0:1.0	.	628;628	P48058;G3V164	GRIA4_HUMAN;.	R	628	ENSP00000282499:W628R;ENSP00000376835:W628R;ENSP00000435775:W628R;ENSP00000432180:W628R	ENSP00000282499:W628R	W	+	1	0	GRIA4	105302711	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.997000	0.88414	2.264000	0.75181	0.533000	0.62120	TGG		0.393	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
ATM	472	hgsc.bcm.edu	37	11	108098352	108098352	+	Start_Codon_SNP	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:108098352A>G	ENST00000452508.2	+	3	190	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	Y_RNA_ENST00000384240.1_RNA|ATM_ENST00000278616.4_Start_Codon_SNP_p.M1V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.M1L(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATTGTGAACCATGAGTCTAGT	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											135.0	131.0	132.0					11																	108098352		2201	4297	6498	107603562	SO:0001582	initiator_codon_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1A>G	11.37:g.108098352A>G	ENSP00000388058:p.Met1Val		107603562	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841558	0.51057	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000527891;ENST00000532931;ENST00000452508	T;T;T;T;T	0.38240	4.06;4.53;1.61;1.15;4.53	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.34250	0.0891	.	.	.	0.80722	D	1	P;P	0.41080	0.69;0.737	B;B	0.36666	0.23;0.182	T	0.32587	-0.9901	9	0.87932	D	0	.	15.1482	0.72674	1.0:0.0:0.0:0.0	.	1;1	Q6P7P1;Q13315	.;ATM_HUMAN	V	1	ENSP00000435747:M1V;ENSP00000278616:M1V;ENSP00000433955:M1V;ENSP00000432318:M1V;ENSP00000388058:M1V	ENSP00000278616:M1V	M	+	1	0	ATM	107603562	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.149000	0.89632	2.042000	0.60477	0.460000	0.39030	ATG		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Missense_Mutation
SYCP2L	221711	hgsc.bcm.edu	37	6	10894116	10894116	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr6:10894116C>T	ENST00000283141.6	+	3	391	c.95C>T	c.(94-96)aCg>aTg	p.T32M	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	32						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCACTTATTACGGATGCATTC	0.294																																																	0			6											34.0	32.0	33.0					6																	10894116		1796	4059	5855	11002102	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.95C>T	6.37:g.10894116C>T	ENSP00000283141:p.Thr32Met		11002102	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	2.059	-0.415829	0.04766	.	.	ENSG00000153157	ENST00000283141	T	0.18960	2.18	5.59	-3.13	0.05266	.	0.452216	0.22644	N	0.057407	T	0.03434	0.0099	N	0.25144	0.715	0.19300	N	0.99998	B	0.33379	0.41	B	0.24701	0.055	T	0.28902	-1.0029	10	0.49607	T	0.09	-3.583	9.5604	0.39366	0.0:0.3851:0.0949:0.5199	.	32	Q5T4T6	SYC2L_HUMAN	M	32	ENSP00000283141:T32M	ENSP00000283141:T32M	T	+	2	0	SYCP2L	11002102	0.049000	0.20398	0.000000	0.03702	0.009000	0.06853	-0.932000	0.03963	-0.702000	0.05056	-1.321000	0.01291	ACG		0.294	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
DAXX	1616	hgsc.bcm.edu	37	6	33287497	33287497	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr6:33287497A>G	ENST00000374542.5	-	6	1804	c.1600T>C	c.(1600-1602)Tca>Cca	p.S534P	ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.S459P|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.S534P	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	534	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGTTCTTCTGACAGTAACGAT	0.512			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0			6											109.0	97.0	101.0					6																	33287497		2203	4300	6503	33395475	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1600T>C	6.37:g.33287497A>G	ENSP00000363668:p.Ser534Pro		33395475	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	A	6.703	0.498432	0.12762	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.69	-3.83	0.04269	.	1.603610	0.04160	N	0.322905	T	0.08447	0.0210	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.18903	-1.0322	9	0.23891	T	0.37	1.2301	6.1894	0.20516	0.2394:0.4727:0.2878:0.0	.	546;534	B4E1C1;Q9UER7	.;DAXX_HUMAN	P	534;534;459	.	ENSP00000266000:S534P	S	-	1	0	DAXX	33395475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.044000	0.12023	-0.240000	0.09696	0.448000	0.29417	TCA		0.512	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1		
GSTA2	2939	hgsc.bcm.edu	37	6	52616423	52616423	+	Silent	SNP	G	G	A	rs112390337	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr6:52616423G>A	ENST00000493422.1	-	6	653	c.498C>T	c.(496-498)taC>taT	p.Y166Y		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	166	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GCTCTTCCACGTAGTAGAGAA	0.517													.|||	15	0.00299521	0.0091	0.0	5008	,	,		19775	0.003		0.0	False		,,,				2504	0.0																0			6						G		39,4367	46.7+/-81.2	0,39,2164	165.0	143.0	150.0		498	-5.0	0.0	6	dbSNP_132	150	0,8600		0,0,4300	no	coding-synonymous	GSTA2	NM_000846.4		0,39,6464	AA,AG,GG		0.0,0.8852,0.2999		166/223	52616423	39,12967	2203	4300	6503	52724382	SO:0001819	synonymous_variant	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.498C>T	6.37:g.52616423G>A			52724382	Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	CCDS4944.1																																																																																				0.517	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846	
LMBRD1	55788	hgsc.bcm.edu	37	6	70410701	70410701	+	Missense_Mutation	SNP	T	T	C	rs561540830	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr6:70410701T>C	ENST00000370577.3	-	12	1373	c.1144A>G	c.(1144-1146)Atg>Gtg	p.M382V	LMBRD1_ENST00000370570.1_Missense_Mutation_p.M309V	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	382					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATTCCTGCCATTGAAGTAAAA	0.239													T|||	2	0.000399361	0.0	0.0	5008	,	,		14703	0.002		0.0	False		,,,				2504	0.0																0			6											14.0	15.0	15.0					6																	70410701		2137	4220	6357	70467422	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1144A>G	6.37:g.70410701T>C	ENSP00000359609:p.Met382Val		70467422	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.930362	0.52866	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.15834	2.39;2.39	5.23	5.23	0.72850	.	.	.	.	.	T	0.06096	0.0158	N	0.25332	0.735	0.80722	D	1	P	0.38020	0.615	B	0.40134	0.32	T	0.16630	-1.0396	9	0.09843	T	0.71	-17.5341	15.1467	0.72657	0.0:0.0:0.0:1.0	.	382	Q9NUN5	LMBD1_HUMAN	V	382;309	ENSP00000359609:M382V;ENSP00000359602:M309V	ENSP00000359602:M309V	M	-	1	0	LMBRD1	70467422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.021000	0.88750	1.982000	0.57802	0.482000	0.46254	ATG		0.239	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368	
MDN1	23195	hgsc.bcm.edu	37	6	90383052	90383052	+	Silent	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr6:90383052T>C	ENST00000369393.3	-	80	13492	c.13377A>G	c.(13375-13377)ctA>ctG	p.L4459L	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Silent_p.L4459L|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4459					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACTTTCAACTAGTGCCATTT	0.453																																																	0			6											106.0	100.0	102.0					6																	90383052		2203	4300	6503	90439773	SO:0001819	synonymous_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13377A>G	6.37:g.90383052T>C			90439773	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
TP53	7157	hgsc.bcm.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	rs193920774		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	17											50.0	44.0	46.0					17																	7577141		2203	4300	6503	7517866	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val		7517866	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH2	4620	hgsc.bcm.edu	37	17	10443999	10443999	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:10443999G>A	ENST00000245503.5	-	11	1304	c.920C>T	c.(919-921)aCc>aTc	p.T307I	MYH2_ENST00000532183.2_Missense_Mutation_p.T307I|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T307I|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	307	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGGTTCGTGGTAATCAGAAG	0.383																																																	0			17											94.0	86.0	89.0					17																	10443999		2203	4300	6503	10384724	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.920C>T	17.37:g.10443999G>A	ENSP00000245503:p.Thr307Ile		10384724	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839338	0.91117	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87887	-2.31;-2.31;-2.31	5.25	5.25	0.73442	Myosin head, motor domain (2);	0.000000	0.40385	U	0.001102	D	0.95828	0.8642	H	0.96365	3.81	0.80722	D	1	D;P	0.71674	0.998;0.901	D;D	0.83275	0.996;0.909	D	0.96890	0.9652	10	0.87932	D	0	.	18.0234	0.89261	0.0:0.0:1.0:0.0	.	307;307	Q567P6;Q9UKX2	.;MYH2_HUMAN	I	307	ENSP00000433944:T307I;ENSP00000245503:T307I;ENSP00000380367:T307I	ENSP00000245503:T307I	T	-	2	0	MYH2	10384724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.643000	0.98464	2.742000	0.94016	0.650000	0.86243	ACC		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
AP2B1	163	hgsc.bcm.edu	37	17	33951544	33951544	+	Silent	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:33951544C>T	ENST00000262325.7	+	6	1207	c.654C>T	c.(652-654)ggC>ggT	p.G218G	AP2B1_ENST00000592545.1_Silent_p.G180G|AP2B1_ENST00000537622.2_Silent_p.G218G|AP2B1_ENST00000589344.1_Silent_p.G218G|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Silent_p.G218G|AP2B1_ENST00000538556.1_Silent_p.G161G	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	218					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTGAATGGGGCCAGATTTTCA	0.463																																																	0			17											104.0	92.0	96.0					17																	33951544		2203	4300	6503	30975657	SO:0001819	synonymous_variant	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.654C>T	17.37:g.33951544C>T			30975657	A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	CCDS32622.1																																																																																				0.463	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		
KRTAP4-8	728224	hgsc.bcm.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																																	4	Substitution - Missense(4)	endometrium(3)|kidney(1)	17											7.0	11.0	10.0					17																	39254054		685	1582	2267	36507580	SO:0001583	missense	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser		36507580	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274311	39274311	+	Missense_Mutation	SNP	T	T	C	rs425755		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:39274311T>C	ENST00000391413.2	-	1	295	c.257A>G	c.(256-258)aAg>aGg	p.K86R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	86	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.K86R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCTTGCAGCAGCT	0.657																																																	1	Substitution - Missense(1)	endometrium(1)	17																																								36527837	SO:0001583	missense	653240			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.257A>G	17.37:g.39274311T>C	ENSP00000375232:p.Lys86Arg		36527837	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.090	-1.168142	0.01660	.	.	ENSG00000212721	ENST00000391413	T	0.00591	6.35	4.25	-7.14	0.01527	.	.	.	.	.	T	0.00178	0.0005	N	0.01109	-1.01	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41215	-0.9521	8	0.10111	T	0.7	.	1.4913	0.02457	0.232:0.3447:0.0991:0.3242	rs425755	86	Q9BYQ6	KR411_HUMAN	R	86	ENSP00000375232:K86R	ENSP00000375232:K86R	K	-	2	0	KRTAP4-11	36527837	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.427000	0.06999	-1.427000	0.01992	-2.307000	0.00257	AAG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
STH	246744	hgsc.bcm.edu	37	17	44076664	44076664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:44076664C>T	ENST00000537309.1	+	1	49	c.19C>T	c.(19-21)Caa>Taa	p.Q7*	MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000576518.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	7			Q -> R (in dbSNP:rs62063857). {ECO:0000269|PubMed:12032355, ECO:0000269|PubMed:12402275, ECO:0000269|PubMed:12913211}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						gggtggaggccaagtctcatg	0.537																																																	0			17											50.0	48.0	49.0					17																	44076664		1974	4170	6144	41432501	SO:0001587	stop_gained	246744			AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.19C>T	17.37:g.44076664C>T	ENSP00000443168:p.Gln7*		41432501	A1L3X7	Nonsense_Mutation	SNP	ENST00000537309.1	37	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	C	9.513	1.106210	0.20632	.	.	ENSG00000256762	ENST00000537309	.	.	.	1.27	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.9899	0.03444	0.3728:0.3918:0.0:0.2353	.	.	.	.	X	7	.	ENSP00000443168:Q7X	Q	+	1	0	STH	41432501	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.334000	0.02665	-0.505000	0.06568	0.491000	0.48974	CAA		0.537	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1		
SNF8	11267	hgsc.bcm.edu	37	17	47018360	47018360	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:47018360T>A	ENST00000502492.1	-	3	552	c.170A>T	c.(169-171)gAg>gTg	p.E57V	SNF8_ENST00000290330.3_Missense_Mutation_p.E57V			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	57					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						CTTCCGGATCTCCTGCTTGTG	0.532																																																	0			17											160.0	138.0	145.0					17																	47018360		2203	4300	6503	44373359	SO:0001583	missense	11267			AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.170A>T	17.37:g.47018360T>A	ENSP00000421380:p.Glu57Val		44373359	Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.056050	0.76074	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.24	5.24	0.73138	.	0.110758	0.64402	D	0.000011	T	0.65863	0.2732	M	0.80508	2.5	0.80722	D	1	P;P	0.40144	0.655;0.704	B;B	0.38428	0.178;0.273	T	0.73279	-0.4033	9	0.87932	D	0	-15.3207	14.9547	0.71104	0.0:0.0:0.0:1.0	.	57;57	Q96H20-2;Q96H20	.;SNF8_HUMAN	V	57	.	ENSP00000290330:E57V	E	-	2	0	SNF8	44373359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.542000	0.82095	2.201000	0.70794	0.529000	0.55759	GAG		0.532	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241	
C2CD2	25966	hgsc.bcm.edu	37	21	43327136	43327136	+	Missense_Mutation	SNP	C	C	T	rs571197268		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr21:43327136C>T	ENST00000380486.3	-	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	C2CD2_ENST00000329623.7_Missense_Mutation_p.R273H	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	428						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CACGTCGACGCGAGGCTTGGT	0.592																																																	0			21											86.0	73.0	78.0					21																	43327136		2203	4300	6503	42200205	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1283G>A	21.37:g.43327136C>T	ENSP00000369853:p.Arg428His		42200205	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256072	0.59321	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.29917	1.55;1.55	4.9	4.0	0.46444	.	0.182021	0.49916	D	0.000136	T	0.44244	0.1284	M	0.71581	2.175	0.31137	N	0.707058	D;D	0.76494	0.996;0.999	P;P	0.59221	0.642;0.854	T	0.52442	-0.8575	10	0.66056	D	0.02	-22.7842	6.385	0.21556	0.1567:0.6864:0.0:0.1568	.	273;428	Q6P6D1;Q9Y426	.;CU025_HUMAN	H	273;428	ENSP00000329302:R273H;ENSP00000369853:R428H	ENSP00000329302:R273H	R	-	2	0	C2CD2	42200205	0.979000	0.34478	0.931000	0.37212	0.443000	0.32047	2.502000	0.45398	2.413000	0.81919	0.655000	0.94253	CGC		0.592	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500	
SIK1	150094	hgsc.bcm.edu	37	21	44838331	44838331	+	Missense_Mutation	SNP	G	G	A	rs142171557		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr21:44838331G>A	ENST00000270162.6	-	12	1685	c.1553C>T	c.(1552-1554)gCg>gTg	p.A518V		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	518					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	ACTGAGCCCCGCGGGGCTTTT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16850	0.0		0.0	False		,,,				2504	0.001																0			21						G	VAL/ALA	0,4400		0,0,2200	22.0	25.0	24.0		1553	-9.6	0.0	21	dbSNP_134	24	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SIK1	NM_173354.3	64	0,4,6496	AA,AG,GG		0.0465,0.0,0.0308	benign	518/784	44838331	4,12996	2200	4300	6500	43662759	SO:0001583	missense	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1553C>T	21.37:g.44838331G>A	ENSP00000270162:p.Ala518Val		43662759	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	1.091	-0.663992	0.03428	0.0	4.65E-4	ENSG00000142178	ENST00000270162	T	0.71222	-0.55	4.79	-9.58	0.00559	.	1.353990	0.05053	N	0.478487	T	0.39200	0.1069	N	0.11560	0.145	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.24012	-1.0172	10	0.22706	T	0.39	.	0.951	0.01376	0.3899:0.1771:0.2284:0.2046	.	518	P57059	SIK1_HUMAN	V	518	ENSP00000270162:A518V	ENSP00000270162:A518V	A	-	2	0	SIK1	43662759	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.074000	0.03427	-2.476000	0.00526	-0.940000	0.02684	GCG		0.687	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354	
ADCY9	115	hgsc.bcm.edu	37	16	4015909	4015909	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr16:4015909C>T	ENST00000294016.3	-	11	4467	c.3929G>A	c.(3928-3930)aGa>aAa	p.R1310K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1310					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTCCACGGTCTCTTGGGGGA	0.537																																																	0			16											100.0	97.0	98.0					16																	4015909		2197	4300	6497	3955910	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3929G>A	16.37:g.4015909C>T	ENSP00000294016:p.Arg1310Lys		3955910	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	7.433	0.639085	0.14386	.	.	ENSG00000162104	ENST00000294016	D	0.81499	-1.5	5.66	3.67	0.42095	.	0.250430	0.41500	D	0.000869	T	0.60130	0.2245	N	0.11560	0.145	0.25816	N	0.984334	B	0.06786	0.001	B	0.06405	0.002	T	0.42632	-0.9440	10	0.14252	T	0.57	.	10.2356	0.43282	0.0:0.782:0.0:0.218	.	1310	O60503	ADCY9_HUMAN	K	1310	ENSP00000294016:R1310K	ENSP00000294016:R1310K	R	-	2	0	ADCY9	3955910	0.955000	0.32602	0.996000	0.52242	0.342000	0.28953	1.379000	0.34340	1.524000	0.49035	0.650000	0.86243	AGA		0.537	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
SMG1	23049	hgsc.bcm.edu	37	16	18882777	18882777	+	Silent	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr16:18882777T>C	ENST00000446231.2	-	16	2623	c.2211A>G	c.(2209-2211)gaA>gaG	p.E737E	snoU13_ENST00000459248.1_RNA|SMG1_ENST00000389467.3_Silent_p.E737E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	737	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAACAGCTGCTTCCAAAGCCC	0.343																																																	0			16											57.0	53.0	54.0					16																	18882777		1813	4081	5894	18790278	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2211A>G	16.37:g.18882777T>C			18790278	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				0.343	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
GTF3C1	2975	hgsc.bcm.edu	37	16	27499589	27499589	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr16:27499589A>G	ENST00000356183.4	-	23	3674	c.3659T>C	c.(3658-3660)cTg>cCg	p.L1220P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1220P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1220	Arg/Lys-rich (basic).				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTCCTTCTTCAGCCGCTTCCG	0.522																																																	0			16											158.0	170.0	166.0					16																	27499589		2197	4300	6497	27407090	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3659T>C	16.37:g.27499589A>G	ENSP00000348510:p.Leu1220Pro		27407090	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147887	0.37923	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26660	1.72	4.71	4.71	0.59529	.	0.433107	0.21168	N	0.079030	T	0.25938	0.0632	M	0.67953	2.075	0.58432	D	0.999998	B;B	0.18166	0.009;0.026	B;B	0.18561	0.01;0.022	T	0.05767	-1.0865	10	0.30078	T	0.28	-7.305	8.5244	0.33296	0.9077:0.0:0.0923:0.0	.	1220;1220	Q12789;Q12789-3	TF3C1_HUMAN;.	P	1220;1216	ENSP00000348510:L1220P	ENSP00000348510:L1220P	L	-	2	0	GTF3C1	27407090	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.426000	0.52778	1.763000	0.52060	0.459000	0.35465	CTG		0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
OSBPL1A	114876	hgsc.bcm.edu	37	18	21897128	21897128	+	Silent	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr18:21897128A>G	ENST00000319481.3	-	11	1061	c.855T>C	c.(853-855)acT>acC	p.T285T		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	285	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATACTGCTTGAGTCAGGTGTT	0.373																																																	0			18											107.0	104.0	105.0					18																	21897128		2203	4300	6503	20151126	SO:0001819	synonymous_variant	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.855T>C	18.37:g.21897128A>G			20151126	B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	CCDS11884.1																																																																																				0.373	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597	
GRM7	2917	hgsc.bcm.edu	37	3	7188223	7188223	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:7188223G>A	ENST00000357716.4	+	2	878	c.604G>A	c.(604-606)Gat>Aat	p.D202N	GRM7_ENST00000403881.1_Missense_Mutation_p.D202N|GRM7_ENST00000402647.2_Missense_Mutation_p.D202N|GRM7_ENST00000389336.4_Missense_Mutation_p.D202N|GRM7_ENST00000486284.1_Missense_Mutation_p.D202N	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	202					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						GGTGCCACCCGATTCCTTCCA	0.512																																																	0			3											126.0	114.0	118.0					3																	7188223		2203	4300	6503	7163223	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.604G>A	3.37:g.7188223G>A	ENSP00000350348:p.Asp202Asn		7163223	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111641	0.94339	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.994;0.994;1.0	D	0.96472	0.9349	10	0.87932	D	0	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	202;202;202	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	N	202	ENSP00000350348:D202N;ENSP00000417536:D202N;ENSP00000373987:D202N;ENSP00000385664:D202N;ENSP00000384585:D202N	ENSP00000350348:D202N	D	+	1	0	GRM7	7163223	1.000000	0.71417	0.981000	0.43875	0.514000	0.34195	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GAT		0.512	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
ITIH4	3700	hgsc.bcm.edu	37	3	52859928	52859928	+	Missense_Mutation	SNP	G	G	A	rs550860646		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:52859928G>A	ENST00000266041.4	-	6	829	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.R245W|ITIH4_ENST00000346281.5_Missense_Mutation_p.R245W|ITIH4_ENST00000434759.3_Missense_Mutation_p.R157W|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Missense_Mutation_p.R245W	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	245					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGATGGCCCGGTCCACATCA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		17585	0.001		0.0	False		,,,				2504	0.0																0			3											126.0	108.0	114.0					3																	52859928		2203	4300	6503	52834968	SO:0001583	missense	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.733C>T	3.37:g.52859928G>A	ENSP00000266041:p.Arg245Trp		52834968	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.619610|2.619610	0.46736|0.46736	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.|T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.18;-1.18;-1.18	4.98|4.98	4.1|4.1	0.47936|0.47936	.|.	.|0.218832	.|0.30109	.|N	.|0.010388	D|D	0.89008|0.89008	0.6593|0.6593	M|M	0.89968|0.89968	3.075|3.075	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.993;0.993;0.993;1.0	D|D	0.90014|0.90014	0.4123|0.4123	5|10	.|0.87932	.|D	.|0	-21.941|-21.941	11.2529|11.2529	0.49037|0.49037	0.0:0.0:0.5437:0.4563|0.0:0.0:0.5437:0.4563	.|.	.|245;245;245;245	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	L|W	102|245;245;245;245;233;157	.|ENSP00000266041:R245W;ENSP00000340520:R245W;ENSP00000417824:R245W;ENSP00000384425:R245W;ENSP00000440036:R157W	.|ENSP00000266041:R245W	P|R	-|-	2|1	0|2	ITIH4|ITIH4	52834968|52834968	0.926000|0.926000	0.31397|0.31397	0.982000|0.982000	0.44146|0.44146	0.291000|0.291000	0.27294|0.27294	1.293000|1.293000	0.33353|0.33353	1.086000|1.086000	0.41228|0.41228	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.562	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218	
NFKBIZ	64332	hgsc.bcm.edu	37	3	101574636	101574636	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:101574636A>G	ENST00000326172.5	+	9	1829	c.1714A>G	c.(1714-1716)Aga>Gga	p.R572G	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.R472G|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.R450G	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	572	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TGAACTCCAGAGAAATCAACA	0.453																																																	0			3											116.0	108.0	110.0					3																	101574636		2203	4300	6503	103057326	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1714A>G	3.37:g.101574636A>G	ENSP00000325663:p.Arg572Gly		103057326	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355704	0.41700	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.56444	0.5;0.46;0.52;0.54	5.92	4.73	0.59995	Ankyrin repeat-containing domain (3);	0.416158	0.27577	N	0.018747	T	0.36220	0.0959	L	0.28344	0.845	0.28350	N	0.92095	B;B	0.19445	0.002;0.036	B;B	0.21151	0.005;0.033	T	0.22661	-1.0210	10	0.19590	T	0.45	-11.058	8.889	0.35420	0.7426:0.1317:0.0:0.1257	.	450;572	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	G	472;472;450;572	ENSP00000419800:R472G;ENSP00000377618:R472G;ENSP00000325593:R450G;ENSP00000325663:R572G	ENSP00000325593:R450G	R	+	1	2	NFKBIZ	103057326	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.684000	0.37649	1.017000	0.39495	0.528000	0.53228	AGA		0.453	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419	
STXBP5L	9515	hgsc.bcm.edu	37	3	120628436	120628436	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:120628436T>C	ENST00000273666.6	+	2	282	c.11T>C	c.(10-12)tTt>tCt	p.F4S	STXBP5L_ENST00000492541.1_Missense_Mutation_p.F4S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.F4S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.F4S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.F4S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	4					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATGAAGAAGTTTAATTTCCGA	0.433																																																	0			3											45.0	48.0	47.0					3																	120628436		1872	4106	5978	122111126	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.11T>C	3.37:g.120628436T>C	ENSP00000273666:p.Phe4Ser		122111126	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.720293	0.68959	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.58358	1.55;1.53;1.31;0.82;1.3;0.34;1.58	5.0	5.0	0.66597	.	0.291678	0.28983	N	0.013502	T	0.72326	0.3446	M	0.85099	2.735	0.58432	D	0.999992	D;P	0.54601	0.967;0.717	D;P	0.63033	0.91;0.693	T	0.77408	-0.2599	10	0.87932	D	0	-15.0876	12.8654	0.57936	0.0:0.0:0.0:1.0	.	4;4	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	4	ENSP00000273666:F4S;ENSP00000420019:F4S;ENSP00000419627:F4S;ENSP00000420287:F4S;ENSP00000420666:F4S;ENSP00000419404:F4S;ENSP00000420167:F4S	ENSP00000273666:F4S	F	+	2	0	STXBP5L	122111126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.242000	0.65389	2.228000	0.72767	0.528000	0.53228	TTT		0.433	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
CLSTN2	64084	hgsc.bcm.edu	37	3	140281734	140281734	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:140281734G>T	ENST00000458420.3	+	14	2484	c.2294G>T	c.(2293-2295)cGg>cTg	p.R765L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	765			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R765Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTTGAGGCCCGGCGTTTCCGG	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												1	Substitution - Missense(1)	large_intestine(1)	3											54.0	52.0	53.0					3																	140281734		2203	4300	6503	141764424	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2294G>T	3.37:g.140281734G>T	ENSP00000402460:p.Arg765Leu		141764424	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885702	0.91814	.	.	ENSG00000158258	ENST00000458420	T	0.24350	1.86	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.61397	-0.7071	9	.	.	.	-25.2099	15.766	0.78126	0.0:0.0:1.0:0.0	.	765	Q9H4D0	CSTN2_HUMAN	L	765	ENSP00000402460:R765L	.	R	+	2	0	CLSTN2	141764424	1.000000	0.71417	0.727000	0.30756	0.871000	0.50021	9.813000	0.99286	2.377000	0.81083	0.563000	0.77884	CGG		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
GPR87	53836	hgsc.bcm.edu	37	3	151012461	151012461	+	Silent	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:151012461G>A	ENST00000260843.4	-	3	1037	c.573C>T	c.(571-573)gaC>gaT	p.D191D	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	191			D -> Y (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			GTTTTGAGCAGTCATGGATAT	0.448																																																	0			3											121.0	117.0	118.0					3																	151012461		2203	4300	6503	152495151	SO:0001819	synonymous_variant	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.573C>T	3.37:g.151012461G>A			152495151	Q5KU35|Q96JZ8|Q9BXC2	Silent	SNP	ENST00000260843.4	37	CCDS3157.1																																																																																				0.448	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		
SLITRK3	22865	hgsc.bcm.edu	37	3	164906123	164906123	+	Silent	SNP	C	C	A	rs377111636		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:164906123C>A	ENST00000475390.1	-	2	2939	c.2496G>T	c.(2494-2496)acG>acT	p.T832T	SLITRK3_ENST00000241274.3_Silent_p.T832T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	832					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTGATTCACCGTCACTATGG	0.547										HNSCC(40;0.11)																																							0			3											106.0	104.0	105.0					3																	164906123		2203	4300	6503	166388817	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2496G>T	3.37:g.164906123C>A			166388817	Q1RMY6	Silent	SNP	ENST00000475390.1	37	CCDS3197.1																																																																																				0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
PRKCI	5584	hgsc.bcm.edu	37	3	170013720	170013720	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:170013720G>T	ENST00000295797.4	+	15	1744	c.1439G>T	c.(1438-1440)cGc>cTc	p.R480L		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AAACAAATTCGCATACCACGT	0.274																																																	0			3											64.0	68.0	67.0					3																	170013720		2202	4299	6501	171496414	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1439G>T	3.37:g.170013720G>T	ENSP00000295797:p.Arg480Leu		171496414	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616046	0.28801	.	.	ENSG00000163558	ENST00000295797	T	0.48201	0.82	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099543	0.64402	D	0.000002	T	0.52517	0.1739	L	0.45581	1.43	0.80722	D	1	P	0.46064	0.872	P	0.48571	0.582	T	0.45293	-0.9271	9	.	.	.	.	19.2927	0.94108	0.0:0.0:1.0:0.0	.	480	P41743	KPCI_HUMAN	L	480	ENSP00000295797:R480L	.	R	+	2	0	PRKCI	171496414	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.471000	0.97696	2.621000	0.88768	0.655000	0.94253	CGC		0.274	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	
DCP1B	196513	hgsc.bcm.edu	37	12	2102455	2102455	+	Silent	SNP	A	A	G	rs150415068	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr12:2102455A>G	ENST00000280665.6	-	3	373	c.294T>C	c.(292-294)ccT>ccC	p.P98P	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	98					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGAGAAGGAAAGGGTCCTGGA	0.403																																																	0			12											148.0	156.0	153.0					12																	2102455		2203	4300	6503	1972716	SO:0001819	synonymous_variant	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.294T>C	12.37:g.2102455A>G			1972716	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																				0.403	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640	
CACNA1C	775	hgsc.bcm.edu	37	12	2719800	2719800	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr12:2719800T>C	ENST00000347598.4	+	29	3712	c.3712T>C	c.(3712-3714)Tcc>Ccc	p.S1238P	CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1238P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1243P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1218P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1218P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1218P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1238					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTGGTCAACTCCACCTACTT	0.592																																																	0			12											114.0	121.0	119.0					12																	2719800		2199	4300	6499	2590061	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3712T>C	12.37:g.2719800T>C	ENSP00000266376:p.Ser1238Pro		2590061	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885085	0.91814	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.19;-4.5;-4.5;-4.5;-4.24;-4.14;-4.21;-4.5;-4.5;-4.16;-4.5;-4.26;-4.5;-4.07;-4.5;-4.25;-4.5;-4.26;-4.2;-4.28;-4.32	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99127	0.9699	H	0.95917	3.74	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.99;0.999;1.0;0.995;0.997;0.999;0.999;1.0;0.887;0.997;0.999;1.0;0.999;0.998;0.996;0.992;1.0;0.999;1.0;0.998;0.999;0.999;0.999;0.981;0.999	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.991;0.996;0.999;0.991;0.996;0.996;0.998;1.0;0.816;0.997;0.996;0.996;0.997;0.986;0.993;0.981;1.0;0.997;0.998;0.993;0.997;0.997;0.996;0.972;0.996	D	0.99204	1.0874	10	0.87932	D	0	.	15.1042	0.72306	0.0:0.0:0.0:1.0	.	1218;1215;1238;1218;1218;1218;1218;1218;1218;1238;1218;1189;1238;1218;1218;1218;1218;1218;1218;1218;1218;1218;1218;1218;1218	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	1243;1218;1218;1218;1218;1218;1218;1218;1218;1218;1238;1238;1218;1218;1218;1218;1218;1218;1218;1218;1218;1218;1218;1059	ENSP00000336982:S1243P;ENSP00000382563:S1218P;ENSP00000437936:S1218P;ENSP00000382552:S1218P;ENSP00000382547:S1218P;ENSP00000382506:S1218P;ENSP00000382530:S1218P;ENSP00000382546:S1218P;ENSP00000382500:S1218P;ENSP00000382549:S1218P;ENSP00000266376:S1238P;ENSP00000382515:S1238P;ENSP00000382510:S1218P;ENSP00000341092:S1218P;ENSP00000382537:S1218P;ENSP00000329877:S1218P;ENSP00000382557:S1218P;ENSP00000385724:S1218P;ENSP00000382512:S1218P;ENSP00000382542:S1218P;ENSP00000382526:S1218P;ENSP00000385896:S1218P;ENSP00000382504:S1218P	ENSP00000323129:S1059P	S	+	1	0	CACNA1C	2590061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.980000	0.88113	2.029000	0.59856	0.533000	0.62120	TCC		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
KRAS	3845	hgsc.bcm.edu	37	12	25398294	25398294	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr12:25398294C>T	ENST00000256078.4	-	2	88	c.25G>A	c.(25-27)Gtt>Att	p.V9I	KRAS_ENST00000556131.1_Missense_Mutation_p.V9I|KRAS_ENST00000311936.3_Missense_Mutation_p.V9I|KRAS_ENST00000557334.1_Missense_Mutation_p.V9I	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	9					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCAGCTCCAACTACCACAAGT	0.348		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	0			12											90.0	80.0	83.0					12																	25398294		2203	4300	6503	25289561	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.25G>A	12.37:g.25398294C>T	ENSP00000256078:p.Val9Ile		25289561	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964152	0.92791	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.68	4.77	0.60923	Small GTP-binding protein domain (1);	0.057339	0.64402	D	0.000002	T	0.79822	0.4512	N	0.25825	0.765	0.80722	D	1	D;D	0.59767	0.969;0.986	P;D	0.63283	0.859;0.913	T	0.82339	-0.0506	10	0.72032	D	0.01	.	14.5201	0.67844	0.1479:0.8521:0.0:0.0	.	9;9	P01116-2;P01116	.;RASK_HUMAN	I	9	ENSP00000308495:V9I;ENSP00000452512:V9I;ENSP00000256078:V9I;ENSP00000451856:V9I	ENSP00000256078:V9I	V	-	1	0	KRAS	25289561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	1.349000	0.45751	0.563000	0.77884	GTT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
OR6C68	403284	hgsc.bcm.edu	37	12	55886497	55886497	+	Silent	SNP	T	T	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr12:55886497T>A	ENST00000548615.1	+	1	336	c.336T>A	c.(334-336)ctT>ctA	p.L112L	RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000379662.1_Silent_p.L117L|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AATTTTTTCTTTTGGCTACCA	0.363																																																	0			12											156.0	147.0	150.0					12																	55886497		2203	4300	6503	54172764	SO:0001819	synonymous_variant	403284				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.336T>A	12.37:g.55886497T>A			54172764		Silent	SNP	ENST00000548615.1	37	CCDS31826.2																																																																																				0.363	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1		
TMEM132C	92293	hgsc.bcm.edu	37	12	128899827	128899827	+	Silent	SNP	C	C	T	rs573315759		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr12:128899827C>T	ENST00000435159.2	+	2	636	c.636C>T	c.(634-636)gcC>gcT	p.A212A		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	212						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CGGTGGGTGCCGGGAGGAAGA	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		14852	0.0		0.001	False		,,,				2504	0.0																0			12											23.0	30.0	28.0					12																	128899827		692	1591	2283	127465780	SO:0001819	synonymous_variant	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.636C>T	12.37:g.128899827C>T			127465780	Q69YX8	Silent	SNP	ENST00000435159.2	37																																																																																					0.677	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062	
RYR3	6263	hgsc.bcm.edu	37	15	33855175	33855175	+	Silent	SNP	C	C	T	rs16972317	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr15:33855175C>T	ENST00000389232.4	+	11	1180	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	RYR3_ENST00000415757.3_Silent_p.D370D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	370	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCACAAGACGCCAAAACTT	0.448													C|||	138	0.0275559	0.0915	0.013	5008	,	,		19427	0.0069		0.0	False		,,,				2504	0.001																0			15						C		313,3453		6,301,1576	128.0	128.0	128.0		1110	0.3	1.0	15	dbSNP_123	128	14,8196		0,14,4091	yes	coding-synonymous	RYR3	NM_001036.3		6,315,5667	TT,TC,CC		0.1705,8.3112,2.7305		370/4871	33855175	327,11649	1883	4105	5988	31642467	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1110C>T	15.37:g.33855175C>T			31642467	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
CXorf38	159013	hgsc.bcm.edu	37	X	40496389	40496389	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chrX:40496389T>C	ENST00000327877.5	-	4	517	c.491A>G	c.(490-492)gAg>gGg	p.E164G	CXorf38_ENST00000378421.1_Missense_Mutation_p.E45G|CXorf38_ENST00000378426.1_Missense_Mutation_p.E45G|CXorf38_ENST00000440784.2_Missense_Mutation_p.E79G	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	164										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GTGCATGATCTCATTACGACA	0.348																																																	0			X											45.0	40.0	42.0					X																	40496389		2203	4298	6501	40381333	SO:0001583	missense	159013			AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.491A>G	X.37:g.40496389T>C	ENSP00000330488:p.Glu164Gly		40381333	B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593093	0.46214	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.84	4.84	0.62591	.	0.227884	0.35151	N	0.003411	T	0.51244	0.1663	L	0.57536	1.79	0.80722	D	1	D;P	0.53619	0.961;0.827	P;P	0.48654	0.585;0.526	T	0.55360	-0.8153	10	0.54805	T	0.06	-20.0439	12.4877	0.55883	0.0:0.0:0.0:1.0	.	79;164	E7EN46;Q8TB03	.;CX038_HUMAN	G	45;164;45;79	ENSP00000367683:E45G;ENSP00000330488:E164G;ENSP00000367677:E45G;ENSP00000400019:E79G	ENSP00000330488:E164G	E	-	2	0	CXorf38	40381333	1.000000	0.71417	0.996000	0.52242	0.743000	0.42351	5.070000	0.64376	1.792000	0.52537	0.345000	0.21793	GAG		0.348	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970	
NHSL2	340527	hgsc.bcm.edu	37	X	71360137	71360137	+	Silent	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chrX:71360137G>A	ENST00000373677.1	+	2	2903	c.1641G>A	c.(1639-1641)gcG>gcA	p.A547A	NHSL2_ENST00000540800.1_Silent_p.A913A|NHSL2_ENST00000510661.1_Silent_p.A682A|NHSL2_ENST00000535692.1_Silent_p.A547A			Q5HYW2	NHSL2_HUMAN	NHS-like 2	547										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TTCAACATGCGAGACCACTCC	0.562																																																	0			X											97.0	74.0	82.0					X																	71360137		2203	4300	6503	71276862	SO:0001819	synonymous_variant	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1641G>A	X.37:g.71360137G>A			71276862	B2RN94	Silent	SNP	ENST00000373677.1	37																																																																																					0.562	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
GABRQ	55879	hgsc.bcm.edu	37	X	151818310	151818310	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chrX:151818310C>T	ENST00000370306.2	+	6	736	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	239					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGGAAGGACGATTACTAGC	0.498																																																	0			X											200.0	148.0	165.0					X																	151818310		2203	4300	6503	151568966	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.716C>T	X.37:g.151818310C>T	ENSP00000359329:p.Thr239Met		151568966	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376608	0.24857	.	.	ENSG00000147402	ENST00000370306	T	0.79141	-1.24	5.82	-1.22	0.09494	Neurotransmitter-gated ion-channel ligand-binding (3);	0.436678	0.19876	N	0.104089	T	0.67221	0.2870	M	0.75264	2.295	0.09310	N	1	P	0.50066	0.931	B	0.39706	0.307	T	0.62803	-0.6777	10	0.62326	D	0.03	.	0.8197	0.01109	0.1648:0.3607:0.206:0.2684	.	239	Q9UN88	GBRT_HUMAN	M	239	ENSP00000359329:T239M	ENSP00000359329:T239M	T	+	2	0	GABRQ	151568966	0.006000	0.16342	0.001000	0.08648	0.061000	0.15899	0.323000	0.19593	-0.084000	0.12595	-0.191000	0.12829	ACG		0.498	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
EPHA5	2044	hgsc.bcm.edu	37	4	66230763	66230763	+	Silent	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr4:66230763G>A	ENST00000273854.3	-	12	2808	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	EPHA5_ENST00000354839.4_Silent_p.I714I|EPHA5_ENST00000511294.1_Silent_p.I737I|EPHA5_ENST00000432638.2_Silent_p.I573I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	736	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTAAATGGATGATGTTAGGAT	0.373										TSP Lung(17;0.13)																																							0			4											209.0	199.0	202.0					4																	66230763		2203	4300	6503	65913358	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2208C>T	4.37:g.66230763G>A			65913358	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.373	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
LARP7	51574	hgsc.bcm.edu	37	4	113571625	113571625	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr4:113571625A>G	ENST00000344442.5	+	10	1581	c.1303A>G	c.(1303-1305)Agg>Ggg	p.R435G	MIR367_ENST00000362299.1_RNA|MIR302C_ENST00000362232.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.R435G|MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302D_ENST00000362275.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.R442G|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000505215.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	435					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGCAGCCAACAGGGAAGAGTG	0.433																																																	0			4											105.0	97.0	100.0					4																	113571625		2203	4300	6503	113791074	SO:0001583	missense	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1303A>G	4.37:g.113571625A>G	ENSP00000344950:p.Arg435Gly		113791074	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	A	0.248	-1.008398	0.02112	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000513553;ENST00000324052	T;T;T	0.17854	2.26;2.25;2.26	5.4	-1.16	0.09678	.	0.839390	0.11169	N	0.592242	T	0.04318	0.0119	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43065	-0.9414	10	0.16896	T	0.51	-1.209	4.4394	0.11566	0.5483:0.0:0.3114:0.1404	.	435	Q4G0J3	LARP7_HUMAN	G	435;442;103;435	ENSP00000344950:R435G;ENSP00000422626:R442G;ENSP00000314311:R435G	ENSP00000314311:R435G	R	+	1	2	LARP7	113791074	0.008000	0.16893	0.001000	0.08648	0.057000	0.15508	0.388000	0.20735	-0.177000	0.10690	0.482000	0.46254	AGG		0.433	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648	
MAP9	79884	hgsc.bcm.edu	37	4	156281396	156281396	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr4:156281396T>C	ENST00000311277.4	-	7	1237	c.974A>G	c.(973-975)gAt>gGt	p.D325G	AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.D301G|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000596754.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	325					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGTTCTGTCATCATCCATAAT	0.378																																																	0			4											158.0	143.0	148.0					4																	156281396		2203	4300	6503	156500846	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.974A>G	4.37:g.156281396T>C	ENSP00000310593:p.Asp325Gly		156500846	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	T	7.978	0.750635	0.15778	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.32753	2.16;2.15;1.44	5.3	-0.0751	0.13728	.	0.465598	0.21348	N	0.076010	T	0.22936	0.0554	M	0.63428	1.95	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32134	-0.9918	10	0.15066	T	0.55	-4.7399	5.3695	0.16132	0.1239:0.2269:0.0:0.6492	.	300;325;325	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	G	325;301;324;325	ENSP00000310593:D325G;ENSP00000427402:D301G;ENSP00000394048:D324G	ENSP00000310593:D325G	D	-	2	0	MAP9	156500846	0.008000	0.16893	0.000000	0.03702	0.002000	0.02628	0.595000	0.24029	-0.419000	0.07439	-2.945000	0.00085	GAT		0.378	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	
TLR3	7098	hgsc.bcm.edu	37	4	187004246	187004246	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr4:187004246T>C	ENST00000296795.3	+	4	1510	c.1406T>C	c.(1405-1407)cTg>cCg	p.L469P	TLR3_ENST00000504367.1_Missense_Mutation_p.L192P	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	469					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AACAAGTACCTGCAGCTGACT	0.468																																																	0			4											70.0	71.0	71.0					4																	187004246		2203	4300	6503	187241240	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1406T>C	4.37:g.187004246T>C	ENSP00000296795:p.Leu469Pro		187241240	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	T	7.951	0.744946	0.15710	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.25085	1.82;1.82	5.57	5.57	0.84162	.	0.372655	0.27437	N	0.019379	T	0.22399	0.0540	L	0.28649	0.875	0.37136	D	0.901473	B	0.26744	0.158	B	0.26416	0.069	T	0.10497	-1.0627	10	0.51188	T	0.08	.	15.7394	0.77876	0.0:0.0:0.0:1.0	.	469	O15455	TLR3_HUMAN	P	469;469;192	ENSP00000296795:L469P;ENSP00000423684:L192P	ENSP00000296795:L469P	L	+	2	0	TLR3	187241240	0.983000	0.35010	0.175000	0.22980	0.009000	0.06853	8.008000	0.88588	2.122000	0.65172	0.455000	0.32223	CTG		0.468	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
BIRC6	57448	hgsc.bcm.edu	37	2	32690189	32690189	+	Silent	SNP	A	A	G	rs35682129	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:32690189A>G	ENST00000421745.2	+	26	5447	c.5313A>G	c.(5311-5313)caA>caG	p.Q1771Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1771					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTTTCTTCAACCTCCGCCTC	0.343													A|||	340	0.0678914	0.0076	0.0879	5008	,	,		13221	0.1498		0.0765	False		,,,				2504	0.0419				Pancreas(94;175 1509 16028 18060 45422)												0			2						A		88,4318	70.9+/-108.8	0,88,2115	57.0	57.0	57.0		5313	-7.2	0.7	2	dbSNP_126	57	664,7934	162.3+/-215.1	22,620,3657	no	coding-synonymous	BIRC6	NM_016252.3		22,708,5772	GG,GA,AA		7.7227,1.9973,5.7828		1771/4858	32690189	752,12252	2203	4299	6502	32543693	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5313A>G	2.37:g.32690189A>G			32543693	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																				0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
GLI2	2736	hgsc.bcm.edu	37	2	121746706	121746706	+	Silent	SNP	G	G	A	rs557121635		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:121746706G>A	ENST00000452319.1	+	14	3276	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A	GLI2_ENST00000314490.11_Silent_p.A744A|GLI2_ENST00000361492.4_Silent_p.A1072A					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACATCAAGGCGCACGCCAGTG	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11685	0.0		0.0	False		,,,				2504	0.0																0			2											48.0	52.0	51.0					2																	121746706		2203	4300	6503	121463176	SO:0001819	synonymous_variant	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3216G>A	2.37:g.121746706G>A			121463176		Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																				0.697	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
LRP1B	53353	hgsc.bcm.edu	37	2	141202224	141202224	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:141202224C>T	ENST00000389484.3	-	64	11053	c.10082G>A	c.(10081-10083)cGa>cAa	p.R3361Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3361	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACTGAAATCGGCCTGGCTG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0			2											89.0	83.0	85.0					2																	141202224		2203	4300	6503	140918694	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10082G>A	2.37:g.141202224C>T	ENSP00000374135:p.Arg3361Gln		140918694	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226530	0.39300	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94966	-3.57	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000002	T	0.71476	0.3344	N	0.00074	-2.255	0.45837	D	0.998705	B	0.33000	0.393	B	0.22601	0.04	T	0.82196	-0.0577	10	0.02654	T	1	.	13.3636	0.60669	0.0:0.9283:0.0:0.0717	.	3361	Q9NZR2	LRP1B_HUMAN	Q	3361;3299	ENSP00000374135:R3361Q	ENSP00000374135:R3361Q	R	-	2	0	LRP1B	140918694	0.996000	0.38824	0.997000	0.53966	0.998000	0.95712	3.352000	0.52239	2.767000	0.95098	0.563000	0.77884	CGA		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
MYO3B	140469	hgsc.bcm.edu	37	2	171264305	171264305	+	Silent	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:171264305A>G	ENST00000408978.4	+	22	2744	c.2601A>G	c.(2599-2601)tcA>tcG	p.S867S	MYO3B_ENST00000334231.6_Silent_p.S876S|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.S867S	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	867	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGAGAACGTCAGAAAACAAGC	0.453																																																	0			2											197.0	190.0	192.0					2																	171264305		1921	4131	6052	170972551	SO:0001819	synonymous_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2601A>G	2.37:g.171264305A>G			170972551	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																				0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
TTN	7273	hgsc.bcm.edu	37	2	179437535	179437535	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:179437535C>T	ENST00000591111.1	-	276	68625	c.68401G>A	c.(68401-68403)Gcc>Acc	p.A22801T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15569T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21874T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15502T|TTN_ENST00000460472.2_Missense_Mutation_p.A15377T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A24442T			Q8WZ42	TITIN_HUMAN	titin	22801	Ig-like 117.		A -> T (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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.A15377T(1)		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)			GTGCAGCAGGCCCTTATAGTA	0.507																																																	1	Substitution - Missense(1)	skin(1)	2											93.0	96.0	95.0					2																	179437535		1954	4141	6095	179145781	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.68401G>A	2.37:g.179437535C>T	ENSP00000465570:p.Ala22801Thr		179145781	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		.	.	.	.	.	.	.	.	.	.	C	16.52	3.145286	0.57044	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62600	0.2441	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.56746	0.977;0.977;0.977;0.958	P;P;P;P	0.54889	0.763;0.763;0.763;0.686	T	0.65586	-0.6132	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	15377;15502;15569;22801	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	21874;15377;15569;15502;15375	ENSP00000343764:A21874T;ENSP00000434586:A15377T;ENSP00000340554:A15569T;ENSP00000352154:A15502T	ENSP00000340554:A15569T	A	-	1	0	TTN	179145781	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	GCC		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CERKL	375298	hgsc.bcm.edu	37	2	182468789	182468789	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:182468789A>C	ENST00000339098.5	-	2	255	c.256T>G	c.(256-258)Ttg>Gtg	p.L86V	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.L86V|CERKL_ENST00000410087.3_Missense_Mutation_p.L86V|CERKL_ENST00000374970.2_Missense_Mutation_p.L86V|CERKL_ENST00000374969.2_Missense_Mutation_p.L86V			Q49MI3	CERKL_HUMAN	ceramide kinase-like	86					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTACATAGCAAGTCATACTTA	0.353																																																	0			2											43.0	42.0	42.0					2																	182468789		2202	4294	6496	182177034	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.256T>G	2.37:g.182468789A>C	ENSP00000341159:p.Leu86Val		182177034	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	A	8.372	0.835533	0.16820	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.31247	2.28;2.49;1.5;2.55;1.54	5.4	-1.22	0.09494	.	1.176470	0.06361	N	0.711671	T	0.13157	0.0319	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.003;0.003;0.001;0.002	B;B;B;B;B	0.09377	0.004;0.004;0.004;0.003;0.003	T	0.25293	-1.0136	10	0.20519	T	0.43	.	0.3674	0.00374	0.3821:0.127:0.2192:0.2717	.	86;86;86;86;86	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	V	86	ENSP00000386725:L86V;ENSP00000387080:L86V;ENSP00000364108:L86V;ENSP00000341159:L86V;ENSP00000364109:L86V	ENSP00000341159:L86V	L	-	1	2	CERKL	182177034	0.000000	0.05858	0.000000	0.03702	0.797000	0.45037	0.484000	0.22308	-0.207000	0.10187	-0.451000	0.05528	TTG		0.353	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1		
FASTKD2	22868	hgsc.bcm.edu	37	2	207652842	207652842	+	Silent	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:207652842C>T	ENST00000236980.6	+	9	2124	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	FASTKD2_ENST00000402774.3_Silent_p.F592F|FASTKD2_ENST00000403094.3_Silent_p.F592F	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	592					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGGACACTTCTCAAAGGATG	0.443																																																	0			2											56.0	52.0	53.0					2																	207652842		2203	4300	6503	207361087	SO:0001819	synonymous_variant	22868			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1776C>T	2.37:g.207652842C>T			207361087	Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	37	CCDS2371.1																																																																																				0.443	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	
IDH1	3417	hgsc.bcm.edu	37	2	209113210	209113210	+	Missense_Mutation	SNP	T	T	C	rs142883642		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:209113210T>C	ENST00000415913.1	-	4	678	c.297A>G	c.(295-297)atA>atG	p.I99M	IDH1_ENST00000446179.1_Missense_Mutation_p.I99M|IDH1_ENST00000345146.2_Missense_Mutation_p.I99M	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	99	Substrate binding.				2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I99M(4)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GAATATTTCGTATGGTGCCAT	0.448			Mis		gliobastoma								T|||	1	0.000199681	0.0	0.0	5008	,	,		18804	0.001		0.0	False		,,,				2504	0.0				Pancreas(158;264 1958 3300 35450 36047)			Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(3)|biliary_tract(1)	2											137.0	120.0	126.0					2																	209113210		2203	4300	6503	208821455	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.297A>G	2.37:g.209113210T>C	ENSP00000390265:p.Ile99Met		208821455	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	20.5	3.995213	0.74703	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.57	3.75	0.43078	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	H	0.95328	3.655	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.84428	0.0575	10	0.87932	D	0	-4.7522	7.4619	0.27300	0.1544:0.0:0.7048:0.1408	.	99	O75874	IDHC_HUMAN	M	99	ENSP00000260985:I99M;ENSP00000410513:I99M;ENSP00000390265:I99M;ENSP00000391075:I99M	ENSP00000260985:I99M	I	-	3	3	IDH1	208821455	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.768000	0.62293	0.691000	0.31592	-0.406000	0.06334	ATA		0.448	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
UNC80	285175	hgsc.bcm.edu	37	2	210786381	210786381	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:210786381G>A	ENST00000439458.1	+	33	5383	c.5303G>A	c.(5302-5304)tGc>tAc	p.C1768Y	UNC80_ENST00000272845.6_Missense_Mutation_p.C1763Y	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1768					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GAGCCCACATGCACGCCCAAC	0.522																																																	0			2											74.0	69.0	71.0					2																	210786381		692	1591	2283	210494626	SO:0001583	missense	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.5303G>A	2.37:g.210786381G>A	ENSP00000391088:p.Cys1768Tyr		210494626	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547246	0.86022	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.30182	1.54;1.54	5.67	5.67	0.87782	.	0.079282	0.64402	D	0.000002	T	0.42337	0.1198	N	0.14661	0.345	0.80722	D	1	D	0.60575	0.988	D	0.77004	0.989	T	0.45977	-0.9224	10	0.66056	D	0.02	-16.6181	20.1271	0.97986	0.0:0.0:1.0:0.0	.	1768	Q8N2C7	UNC80_HUMAN	Y	1768;1763	ENSP00000391088:C1768Y;ENSP00000272845:C1763Y	ENSP00000272845:C1763Y	C	+	2	0	UNC80	210494626	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.979000	0.93455	2.834000	0.97654	0.650000	0.86243	TGC		0.522	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
PAX5	5079	hgsc.bcm.edu	37	9	37020739	37020739	+	Missense_Mutation	SNP	C	C	A	rs570062385		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr9:37020739C>A	ENST00000358127.4	-	2	180	c.106G>T	c.(106-108)Gta>Tta	p.V36L	PAX5_ENST00000522003.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.V36L|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.V36L|PAX5_ENST00000520281.1_Missense_Mutation_p.V36L|PAX5_ENST00000414447.1_Missense_Mutation_p.V36L|PAX5_ENST00000377852.2_Missense_Mutation_p.V36L|PAX5_ENST00000377847.2_Missense_Mutation_p.V36L|PAX5_ENST00000520154.1_Missense_Mutation_p.V36L|PAX5_ENST00000377853.2_Missense_Mutation_p.V36L	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	36	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TGGCGGACTACATCCGGGAGT	0.517			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																			Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	41	Unknown(41)	haematopoietic_and_lymphoid_tissue(41)	9											116.0	107.0	110.0					9																	37020739		2203	4300	6503	37010739	SO:0001583	missense	5079				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.106G>T	9.37:g.37020739C>A	ENSP00000350844:p.Val36Leu		37010739	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491559	0.84962	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D	0.99329	-5.73;-5.73;-5.73;-5.73;-5.73;-5.73;-5.75;-5.73;-5.73	5.59	5.59	0.84812	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	N	0.16790	0.44	0.80722	D	1	B;P;D;B;P;B;B;P;P;P	0.53462	0.025;0.624;0.96;0.21;0.624;0.035;0.049;0.624;0.624;0.624	B;B;D;B;B;B;B;B;B;B	0.70487	0.066;0.272;0.969;0.246;0.357;0.124;0.059;0.36;0.272;0.357	D	0.99931	1.1321	10	0.49607	T	0.09	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	35;36;36;36;36;36;36;36;36;36	C0KTF2;C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	L	36	ENSP00000350844:V36L;ENSP00000367084:V36L;ENSP00000367083:V36L;ENSP00000429637:V36L;ENSP00000429291:V36L;ENSP00000430773:V36L;ENSP00000404687:V36L;ENSP00000412188:V36L;ENSP00000367078:V36L	ENSP00000350844:V36L	V	-	1	0	PAX5	37010739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.976000	0.70484	2.624000	0.88883	0.655000	0.94253	GTA		0.517	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		
SNAPC4	6621	hgsc.bcm.edu	37	9	139277716	139277716	+	Silent	SNP	G	G	A	rs61731237	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr9:139277716G>A	ENST00000298532.2	-	15	2273	c.1905C>T	c.(1903-1905)caC>caT	p.H635H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGACAGGGCCGTGGGCCCTGG	0.716													G|||	77	0.0153754	0.0567	0.0029	5008	,	,		14587	0.0		0.0	False		,,,				2504	0.0																0			9						A		205,4187		1,203,1992	20.0	26.0	24.0		1905	-5.1	0.0	9	dbSNP_129	24	8,8574		0,8,4283	no	coding-synonymous	SNAPC4	NM_003086.2		1,211,6275	AA,AG,GG		0.0932,4.6676,1.6417		635/1470	139277716	213,12761	2196	4291	6487	138397537	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1905C>T	9.37:g.139277716G>A			138397537		Silent	SNP	ENST00000298532.2	37	CCDS6998.1																																																																																				0.716	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
CDK8	1024	hgsc.bcm.edu	37	13	26970427	26970427	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr13:26970427G>T	ENST00000381527.3	+	8	1299	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CACAGATAAAGATTGGGAAGA	0.284																																																	0			13											37.0	41.0	40.0					13																	26970427		2200	4286	6486	25868427	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.796G>T	13.37:g.26970427G>T	ENSP00000370938:p.Asp266Tyr		25868427	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850294	0.71719	.	.	ENSG00000132964	ENST00000381527	T	0.68025	-0.3	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.087078	0.85682	D	0.000000	T	0.69223	0.3087	L	0.46819	1.47	0.80722	D	1	B;B	0.27700	0.154;0.186	B;B	0.37387	0.16;0.248	T	0.66941	-0.5796	10	0.62326	D	0.03	-15.4702	20.1896	0.98226	0.0:0.0:1.0:0.0	.	266;266	P49336-2;P49336	.;CDK8_HUMAN	Y	266	ENSP00000370938:D266Y	ENSP00000370938:D266Y	D	+	1	0	CDK8	25868427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.772000	0.95346	0.650000	0.86243	GAT		0.284	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1		
CDK8	1024	hgsc.bcm.edu	37	13	26970447	26970447	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr13:26970447G>C	ENST00000381527.3	+	8	1319	c.816G>C	c.(814-816)aaG>aaC	p.K272N	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		ATATAAAAAAGATGCCTGAAC	0.289																																																	0			13											41.0	45.0	44.0					13																	26970447		2199	4283	6482	25868447	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.816G>C	13.37:g.26970447G>C	ENSP00000370938:p.Lys272Asn		25868447	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105563	0.77096	.	.	ENSG00000132964	ENST00000381527	T	0.66099	-0.19	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041014	0.85682	D	0.000000	T	0.60508	0.2274	N	0.14661	0.345	0.80722	D	1	D;D	0.57571	0.975;0.98	P;P	0.60541	0.804;0.876	T	0.59674	-0.7410	10	0.33940	T	0.23	-12.0291	13.404	0.60900	0.0719:0.0:0.9281:0.0	.	272;272	P49336-2;P49336	.;CDK8_HUMAN	N	272	ENSP00000370938:K272N	ENSP00000370938:K272N	K	+	3	2	CDK8	25868447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.628000	0.83189	2.772000	0.95346	0.650000	0.86243	AAG		0.289	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1		
FRY	10129	hgsc.bcm.edu	37	13	32808806	32808806	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr13:32808806C>T	ENST00000380250.3	+	42	6119	c.5623C>T	c.(5623-5625)Cgg>Tgg	p.R1875W		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1875						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCAGATATTCCGGGCCCTCAA	0.512																																																	0			13											113.0	109.0	111.0					13																	32808806		1967	4141	6108	31706806	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5623C>T	13.37:g.32808806C>T	ENSP00000369600:p.Arg1875Trp		31706806	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747081	0.69418	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.53206	0.63	5.91	1.13	0.20643	.	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.81634	-0.0844	10	0.87932	D	0	.	17.889	0.88865	0.3528:0.6472:0.0:0.0	.	1875	Q5TBA9	FRY_HUMAN	W	1875;712	ENSP00000369600:R1875W	ENSP00000369600:R1875W	R	+	1	2	FRY	31706806	0.965000	0.33210	0.999000	0.59377	0.992000	0.81027	0.691000	0.25467	0.370000	0.24538	-0.188000	0.12872	CGG		0.512	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
LHFP	10186	hgsc.bcm.edu	37	13	40175189	40175189	+	Silent	SNP	A	A	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr13:40175189A>G	ENST00000379589.3	-	2	627	c.165T>C	c.(163-165)caT>caC	p.H55H	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	55						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GACTCTCATCATGCACAGGAT	0.572			T	HMGA2	lipoma																																			Dom	yes		13	13q12	10186	lipoma HMGIC fusion partner		M	0			13											214.0	192.0	199.0					13																	40175189		2203	4300	6503	39073189	SO:0001819	synonymous_variant	10186			AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.165T>C	13.37:g.40175189A>G			39073189	B2R7M2|Q53FC0|Q96SH5	Silent	SNP	ENST00000379589.3	37	CCDS9369.1																																																																																				0.572	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780	
SLITRK5	26050	hgsc.bcm.edu	37	13	88329446	88329446	+	Silent	SNP	C	C	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr13:88329446C>A	ENST00000325089.6	+	2	2022	c.1803C>A	c.(1801-1803)acC>acA	p.T601T	SLITRK5_ENST00000400028.3_Silent_p.T360T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	601	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCGCTGAGACCGACATGCGCT	0.557																																																	0			13											168.0	152.0	157.0					13																	88329446		2203	4300	6503	87127447	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1803C>A	13.37:g.88329446C>A			87127447	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1																																																																																				0.557	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3		
APC	324	hgsc.bcm.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*			P25054	APC_HUMAN	adenomatous polyposis coli	1450	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1450*(153)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(LS123_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(SW837_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	159	Substitution - Nonsense(153)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(136)|stomach(13)|soft_tissue(4)|small_intestine(3)|endometrium(1)|skin(1)|pancreas(1)	5	GRCh37	CM930030	APC	M	rs121913332						102.0	90.0	94.0					5																	112175639		2202	4300	6502	112203538	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4348C>T	5.37:g.112175639C>T	ENSP00000413133:p.Arg1450*		112203538	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.651223	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	4.2	0.49525	.	0.600559	0.18052	N	0.153248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0649	14.037	0.64651	0.426:0.574:0.0:0.0	.	.	.	.	X	1450	.	.	R	+	1	2	APC	112203538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.564000	0.49628	0.655000	0.94253	CGA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
FAT2	2196	hgsc.bcm.edu	37	5	150901015	150901015	+	Silent	SNP	T	T	G			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr5:150901015T>G	ENST00000261800.5	-	18	11151	c.11139A>C	c.(11137-11139)tcA>tcC	p.S3713S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3713					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACCCCCACTGAATGCTCCA	0.557																																																	0			5											79.0	78.0	79.0					5																	150901015		2203	4300	6503	150881208	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11139A>C	5.37:g.150901015T>G			150881208	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	7.674	0.687604	0.14973	.	.	ENSG00000086570	ENST00000520200	T	0.70986	-0.53	5.89	-11.8	0.00035	.	0.694941	0.13025	N	0.419755	T	0.47544	0.1451	.	.	.	0.32553	N	0.532061	.	.	.	.	.	.	T	0.44574	-0.9319	7	0.15499	T	0.54	.	8.6555	0.34060	0.0574:0.1772:0.1794:0.5861	.	.	.	.	R	572	ENSP00000429678:S572R	ENSP00000429678:S572R	S	-	1	0	FAT2	150881208	0.000000	0.05858	0.059000	0.19551	0.951000	0.60555	-5.987000	0.00087	-2.541000	0.00485	-0.313000	0.08912	AGT		0.557	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
TSKS	60385	hgsc.bcm.edu	37	19	50251426	50251426	+	Splice_Site	SNP	C	C	A			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:50251426C>A	ENST00000246801.3	-	4	578		c.e4-1		TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate						negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AACACTCGCTCTGGAGCATGG	0.552																																																	0			19											118.0	99.0	105.0					19																	50251426		2203	4300	6503	54943238	SO:0001630	splice_region_variant	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.496-1G>T	19.37:g.50251426C>A			54943238	Q8WXJ0	Splice_Site	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421846	0.25639	.	.	ENSG00000126467	ENST00000246801	.	.	.	5.6	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6184	0.51102	0.1778:0.8222:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSKS	54943238	1.000000	0.71417	0.929000	0.37066	0.265000	0.26407	3.972000	0.56838	1.306000	0.44926	0.462000	0.41574	.		0.552	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	Intron
SCTR	6344	hgsc.bcm.edu	37	2	120194651	120194652	+	IGR	INS	-	-	GTGTGC	rs3217464|rs201433053|rs201077606	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:120194651_120194652insGTGTGC	ENST00000019103.5	-	0	1865				TMEM37_ENST00000306406.4_In_Frame_Ins_p.70_70T>SVP|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_In_Frame_Ins_p.82_82T>SVP	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.T70>SVP(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CACCAACCAGACGATCTGCTTC	0.668														4489	0.896366	0.9705	0.8386	5008	,	,		15646	0.8919		0.8748	False		,,,				2504	0.864																1	Complex - insertion inframe(1)	ovary(1)	2								4023,213		1924,175,19						3.4	0.6		dbSNP_126	56	6958,1218		3018,922,148	no	coding	TMEM37	NM_183240.2		4942,1097,167	A1A1,A1R,RR		14.8973,5.0283,11.5292				10981,1431				119911122	SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194651_120194652insGTGTGC			119911121	Q12961|Q13213|Q53T00	In_Frame_Ins	INS	ENST00000019103.5	37	CCDS2127.1																																																																																				0.668	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del|AC105344.2_ENST00000414876.1_lincRNA			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
FANCD2	2177	hgsc.bcm.edu	37	3	10088408	10088408	+	Splice_Site	DEL	G	G	-	rs369823368|rs146316187		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:10088408delG	ENST00000419585.1	+	15	1439		c.e15+1		FANCD2_ENST00000383807.1_Splice_Site|FANCD2_ENST00000287647.3_Splice_Site|FANCD2_ENST00000383806.1_Splice_Site			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCATTACTTAGTAAGTGTCAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0			3							,	843,3415		0,843,1286	32.0	30.0	31.0		,	1.5	0.4	3		32	1328,6892		1,1326,2783	no	splice-5,splice-5	FANCD2	NM_033084.3,NM_001018115.1	,	1,2169,4069	A1A1,A1R,RR		16.1557,19.798,17.3986	,	,	10088408	2171,10307	2199	4279	6478	10063408	SO:0001630	splice_region_variant	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1G>-	3.37:g.10088408delG			10063408	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Frame_Shift_Del	DEL	ENST00000419585.1	37	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Intron
MUC4	4585	hgsc.bcm.edu	37	3	195509347	195509394	+	In_Frame_Del	DEL	GTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT	GTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT	-	rs199889138|rs2948679|rs187613383|rs368857455|rs573840119|rs62282478|rs372565113|rs201189686|rs200052949|rs201323903|rs536848763|rs559708827|rs377471271|rs556992821	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	GTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT	GTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr3:195509347_195509394delGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT	ENST00000463781.3	-	2	9516_9563	c.9057_9104delAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCAC	c.(9055-9105)acaggtcacgccacccctcttcatgtcaccagcccttcctcagcatccacc>acc	p.3019_3035TGHATPLHVTSPSSAST>T	MUC4_ENST00000475231.1_In_Frame_Del_p.3019_3035TGHATPLHVTSPSSAST>T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	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)	p.T3023N(1)|p.H3026P(1)|p.S3032S(1)|p.G3020C(1)|p.T3019T(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)		GGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATATTG	0.593																																																	5	Substitution - Missense(3)|Substitution - coding silent(2)	endometrium(3)|kidney(1)|skin(1)	3							,,	295,2977		73,149,1414					,,	1.2	0.1		dbSNP_130	12	582,6102		148,286,2908	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	221,435,4322	A1A1,A1R,RR		8.7074,9.0159,8.8088	,,	,,		877,9079				196994173	SO:0001651	inframe_deletion	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.9057_9104delAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCAC	3.37:g.195509347_195509394delGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT	ENSP00000417498:p.Thr3019_Ser3034del		196994126	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.593	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CYP21A2	1589	hgsc.bcm.edu	37	6	32006215	32006217	+	In_Frame_Del	DEL	CTG	CTG	-	rs61338903|rs138498156	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	CTG	CTG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr6:32006215_32006217delCTG	ENST00000418967.2	+	1	174_176	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	CYP21A2_ENST00000435122.2_In_Frame_Del_p.L10del|C4B-AS1_ENST00000415626.1_RNA	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	0					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	gctcctgggcctgctgctgctgc	0.67														1086	0.216853	0.0356	0.3703	5008	,	,		14879	0.2123		0.336	False		,,,				2504	0.2352				Melanoma(174;1669 1998 3915 34700 46447)												0			6							,	328,3316		88,152,1582					,	1.1	0.8		dbSNP_134	4	2077,4999		596,885,2057	no	coding,coding	CYP21A2	NM_001128590.3,NM_000500.7	,	684,1037,3639	A1A1,A1R,RR		29.3527,9.0011,22.4347	,	,		2405,8315				32114196	SO:0001651	inframe_deletion	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.16_18delCTG	6.37:g.32006224_32006226delCTG	ENSP00000408860:p.Leu10del		32114194	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	In_Frame_Del	DEL	ENST00000418967.2	37	CCDS4735.1																																																																																				0.670	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500	
SLC22A1	6580	hgsc.bcm.edu	37	6	160560898	160560905	+	Splice_Site	DEL	TGGTAAGT	TGGTAAGT	-	rs36056065|rs35854239|rs200234072|rs77297078|rs113569197	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	TGGTAAGT	TGGTAAGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr6:160560898_160560905delTGGTAAGT	ENST00000366963.4	+	7	1422_1423	c.1275_1276delTGGTAAGT	c.(1273-1278)cctggt>ccgt	p.G426fs	SLC22A1_ENST00000457470.2_Splice_Site_p.G426fs|SLC22A1_ENST00000324965.4_Splice_Site_p.G426fs	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	426					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	TTATCTCACCTGGTAAGTTGGTAAGTTG	0.495														3453	0.689497	0.7413	0.7839	5008	,	,		15006	0.7411		0.5825	False		,,,				2504	0.6094																0			6																																								160480895	SO:0001630	splice_region_variant	6580			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1276+1TGGTAAGT>-	6.37:g.160560906_160560913delTGGTAAGT			160480888	A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	In_Frame_Del	DEL	ENST00000366963.4	37	CCDS5274.1																																																																																				0.495	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2		Frame_Shift_Del
CADM1	23705	hgsc.bcm.edu	37	11	115375030	115375035	+	In_Frame_Del	DEL	AGCCGG	AGCCGG	-	rs147879356	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	AGCCGG	AGCCGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr11:115375030_115375035delAGCCGG	ENST00000452722.3	-	1	98_103	c.78_83delCCGGCT	c.(76-84)ctccggctt>ctt	p.26_28LRL>L	CADM1_ENST00000331581.6_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000542447.2_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000537058.1_In_Frame_Del_p.26_28LRL>L	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CAACAGCAGAAGCCGGAGCCGGAGCC	0.694														28	0.00559105	0.0008	0.0101	5008	,	,		12001	0.0		0.0169	False		,,,				2504	0.0031																0			11							,	10,3820		3,4,1908					,	1.3	1.0		dbSNP_134	11	123,7449		13,97,3676	no	coding,coding	CADM1	NM_014333.3,NM_001098517.1	,	16,101,5584	A1A1,A1R,RR		1.6244,0.2611,1.1665	,	,		133,11269				114880245	SO:0001651	inframe_deletion	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.78_83delCCGGCT	11.37:g.115375036_115375041delAGCCGG	ENSP00000395359:p.Leu26_Arg27del		114880240		In_Frame_Del	DEL	ENST00000452722.3	37	CCDS8373.1																																																																																				0.694	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
IFI27	3429	hgsc.bcm.edu	37	14	94582130	94582131	+	In_Frame_Ins	INS	-	-	GGCCATGGC	rs3833507	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr14:94582130_94582131insGGCCATGGC	ENST00000555744.1	+	4	313_314	c.125_126insGGCCATGGC	c.(124-129)gtggct>gtGGCCATGGCggct	p.43_44insMAA	IFI27_ENST00000298902.5_In_Frame_Ins_p.43_44insMAA|IFI27_ENST00000557634.1_In_Frame_Ins_p.33_34insMAA|IFI27_ENST00000448882.1_In_Frame_Ins_p.46_47insMAA|IFI27_ENST00000444961.1_Splice_Site_p.46_47insMAA|IFI27_ENST00000557098.1_De_novo_Start_InFrame			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.A43_V44insMAA(1)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CCTGCAGTTGTGGCTGTGCCCA	0.629														3294	0.657748	0.8306	0.5591	5008	,	,		18519	0.5486		0.6282	False		,,,				2504	0.637				GBM(128;797 1667 20895 29868 47129)												1	Insertion - In frame(1)	breast(1)	14								3129,1037		1234,661,188						-1.5	0.0		dbSNP_107	13	4889,3239		1588,1713,763	no	coding	IFI27	NM_005532.3		2822,2374,951	A1A1,A1R,RR		39.8499,24.892,34.7812				8018,4276				93651884	SO:0001652	inframe_insertion	3429			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	Exception_encountered	14.37:g.94582130_94582131insGGCCATGGC	ENSP00000451956:p.Ala43_Val44insMetAlaAla		93651883	Q53YA6|Q6IEC1|Q96BK3	In_Frame_Ins	INS	ENST00000555744.1	37	CCDS32148.1																																																																																				0.629	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532	
CCDC144NL	339184	hgsc.bcm.edu	37	17	20768756	20768756	+	Frame_Shift_Del	DEL	T	T	-	rs139187048		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:20768756delT	ENST00000327925.5	-	4	757	c.638delA	c.(637-639)aagfs	p.K213fs	CCDC144NL_ENST00000539484.1_5'UTR|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	213										large_intestine(3)|lung(3)|skin(1)	7						CACATGATTCTTCCCCTTTCT	0.368																																																	0			17											103.0	95.0	98.0					17																	20768756		2203	4300	6503	20709348	SO:0001589	frameshift_variant	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.638delA	17.37:g.20768756delT	ENSP00000328054:p.Lys213fs		20709348		Frame_Shift_Del	DEL	ENST00000327925.5	37	CCDS32591.1																																																																																				0.368	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306	
CCDC144NL	339184	hgsc.bcm.edu	37	17	20768762	20768763	+	Frame_Shift_Ins	INS	-	-	C	rs371295730|rs201148033|rs149760777	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:20768762_20768763insC	ENST00000327925.5	-	4	750_751	c.631_632insG	c.(631-633)aagfs	p.K211fs	CCDC144NL_ENST00000539484.1_5'UTR|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	211										large_intestine(3)|lung(3)|skin(1)	7						ATTCTTCCCCTTTCTTTTTCCT	0.371																																																	0			17																																								20709355	SO:0001589	frameshift_variant	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.631_632insG	17.37:g.20768762_20768763insC	ENSP00000328054:p.Lys211fs		20709354		Frame_Shift_Ins	INS	ENST00000327925.5	37	CCDS32591.1																																																																																				0.371	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306	
MLLT6	4302	hgsc.bcm.edu	37	17	36864101	36864107	+	Frame_Shift_Del	DEL	CGTGCCT	CGTGCCT	-			TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	CGTGCCT	CGTGCCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr17:36864101_36864107delCGTGCCT	ENST00000325718.7	+	4	421_427	c.330_336delCGTGCCT	c.(328-336)tacgtgcctfs	p.YVP110fs	MLLT6_ENST00000378137.5_Frame_Shift_Del_p.YVP110fs|CTB-58E17.3_ENST00000583409.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	110					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCTGCAGTACGTGCCTCATGATCGCT	0.599			T	MLL	AL																																			Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	0			17																																								34117633	SO:0001589	frameshift_variant	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.330_336delCGTGCCT	17.37:g.36864101_36864107delCGTGCCT	ENSP00000316426:p.Tyr110fs		34117627	Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Del	DEL	ENST00000325718.7	37	CCDS11327.1																																																																																				0.599	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937	
UHRF1	29128	hgsc.bcm.edu	37	19	4954679	4954680	+	RNA	INS	-	-	C	rs397767650|rs55946225	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:4954679_4954680insC	ENST00000592666.1	+	0	2551_2552							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCGAGCAGGGCGGGTCCCCGC	0.683																																																	0			19							,	3444,10		1720,4,3					,	-6.1	0.0		dbSNP_131	9	7668,10		3830,8,1	no	frameshift,frameshift	UHRF1	NM_013282.3,NM_001048201.1	,	5550,12,4	A1A1,A1R,RR		0.1302,0.2895,0.1797	,	,		11112,20				4905680			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954680_4954680dupC			4905679	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Frame_Shift_Ins	INS	ENST00000592666.1	37																																																																																					0.683	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201	
FAM71E2	284418	hgsc.bcm.edu	37	19	55869880	55869903	+	In_Frame_Del	DEL	GCTCCTTCATCTCGCCCCATGGCT	GCTCCTTCATCTCGCCCCATGGCT	-	rs386811061|rs67988285|rs28420516|rs28712579|rs67168196	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	GCTCCTTCATCTCGCCCCATGGCT	GCTCCTTCATCTCGCCCCATGGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr19:55869880_55869903delGCTCCTTCATCTCGCCCCATGGCT	ENST00000424985.3	-	9	2526_2549	c.2333_2356delAGCCATGGGGCGAGATGAAGGAGC	c.(2332-2358)cagccatggggcgagatgaaggagcca>cca	p.QPWGEMKE778del	CTD-2105E13.6_ENST00000591954.3_In_Frame_Del_p.SHGAR*RS328del	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	778			Missing (in dbSNP:rs35996821). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.							NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						TCCCAGGGTGGCTCCTTCATCTCGCCCCATGGCTGCTCCTTCAT	0.638														4385	0.875599	0.8427	0.8372	5008	,	,		15757	0.9246		0.8738	False		,,,				2504	0.8988																0			19								1811,457		798,215,121						-2.8	0.0		dbSNP_130	22	3445,651		1537,371,140	no	coding	FAM71E2	NM_001145402.1		2335,586,261	A1A1,A1R,RR		15.8936,20.1499,17.4104				5256,1108				60561715	SO:0001651	inframe_deletion	284418			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2333_2356delAGCCATGGGGCGAGATGAAGGAGC	19.37:g.55869880_55869903delGCTCCTTCATCTCGCCCCATGGCT	ENSP00000398617:p.Gln778_Glu785del		60561692	Q8ND99	In_Frame_Del	DEL	ENST00000424985.3	37																																																																																					0.638	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
NINL	22981	hgsc.bcm.edu	37	20	25457050	25457055	+	In_Frame_Del	DEL	CTCCCA	CTCCCA	-	rs68078266|rs146288604|rs200097181|rs34410422|rs201074890	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	CTCCCA	CTCCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr20:25457050_25457055delCTCCCA	ENST00000278886.6	-	17	2945_2950	c.2872_2877delTGGGAG	c.(2872-2877)tgggagdel	p.WE958del	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	958				Missing (in Ref. 4; AAH36380). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCAGGGGTGGCTCCCACATCCGTGGC	0.689														2791	0.557308	0.5356	0.3559	5008	,	,		14584	0.9067		0.4304	False		,,,				2504	0.5																0			20								1921,2191		513,895,648						0.3	0.0		dbSNP_130	17	3184,4816		750,1684,1566	no	coding	NINL	NM_025176.4		1263,2579,2214	A1A1,A1R,RR		39.8,46.7169,42.1483				5105,7007				25405055	SO:0001651	inframe_deletion	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2872_2877delTGGGAG	20.37:g.25457050_25457055delCTCCCA	ENSP00000278886:p.Trp958_Glu959del		25405050	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	In_Frame_Del	DEL	ENST00000278886.6	37	CCDS33452.1																																																																																				0.689	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del		44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
VCX2	51480	hgsc.bcm.edu	37	X	8138165	8138168	+	Frame_Shift_Del	DEL	CCTC	CCTC	-	rs1058237|rs144469326	byFrequency	TCGA-F5-6702-01A-11D-1826-10	TCGA-F5-6702-10A-01D-1826-10	CCTC	CCTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	7e34a04a-ec52-44dc-857c-6ffa656387f4	9c18fd3a-c6b4-4981-9398-e06c753e5b43	g.chrX:8138165_8138168delCCTC	ENST00000317103.4	-	3	631_634	c.325_328delGAGG	c.(325-330)gaggtgfs	p.EV109fs		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	109	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GGTTCTTCCACCTCGCTCTCCTGA	0.642																																																	0			X																																								8098168	SO:0001589	frameshift_variant	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.325_328delGAGG	X.37:g.8138165_8138168delCCTC	ENSP00000321309:p.Glu109fs		8098165	A3KPB6|Q4V9T2|Q9P0H5	Frame_Shift_Del	DEL	ENST00000317103.4	37	CCDS35200.1																																																																																				0.642	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378	
