#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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
MAD1L1	8379	hgsc.bcm.edu	37	7	1976468	1976468	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:1976468C>A	ENST00000406869.1	-	17	2219	c.1662G>T	c.(1660-1662)agG>agT	p.R554S	MAD1L1_ENST00000402746.1_Missense_Mutation_p.R462S|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R554S|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R554S			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	554					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCAGGCGCTGCCTGGCCACAC	0.667																																																	0			7											26.0	32.0	30.0					7																	1976468		2170	4244	6414	1942994	SO:0001583	missense	8379			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1662G>T	7.37:g.1976468C>A	ENSP00000385334:p.Arg554Ser	Somatic		Capture	Illumina HiSeq	Phase_I	1942994	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892801	0.52121	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	4.77	3.88	0.44766	.	0.342816	0.32488	N	0.006022	T	0.24236	0.0587	L	0.59436	1.845	0.09310	N	1	P;P;B	0.45531	0.718;0.86;0.278	B;B;B	0.41332	0.354;0.279;0.148	T	0.13818	-1.0495	10	0.22109	T	0.4	-17.2986	11.0989	0.48161	0.0:0.9051:0.0:0.0949	.	553;462;554	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	S	462;554;554;105;554;105;10	ENSP00000384155:R462S;ENSP00000382562:R554S;ENSP00000385334:R554S;ENSP00000265854:R554S;ENSP00000394886:R105S;ENSP00000394069:R10S	ENSP00000265854:R554S	R	-	3	2	MAD1L1	1942994	0.892000	0.30473	0.360000	0.25837	0.989000	0.77384	1.605000	0.36815	2.199000	0.70637	0.555000	0.69702	AGG		MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
HDAC9	9734	hgsc.bcm.edu	37	7	18975537	18975537	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:18975537C>A	ENST00000432645.2	+	22	2900	c.2900C>A	c.(2899-2901)gCc>gAc	p.A967D	HDAC9_ENST00000406451.4_Missense_Mutation_p.A967D|HDAC9_ENST00000441542.2_Missense_Mutation_p.A970D|HDAC9_ENST00000401921.1_Missense_Mutation_p.A926D	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	967	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCATCAGAAGCCTGTGTAAAT	0.423																																																	0			7											173.0	165.0	168.0					7																	18975537		1890	4123	6013	18942062	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2900C>A	7.37:g.18975537C>A	ENSP00000410337:p.Ala967Asp	Somatic		Capture	Illumina HiSeq	Phase_I	18942062	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103885	0.94245	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.66	5.66	0.87406	Histone deacetylase domain (2);	0.096119	0.45867	D	0.000331	D	0.84678	0.5525	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.71674	0.992;0.998;0.998;0.998;0.998	P;P;P;P;P	0.59221	0.852;0.835;0.658;0.854;0.658	D	0.86812	0.1999	10	0.87932	D	0	-44.9098	19.7469	0.96255	0.0:1.0:0.0:0.0	.	215;926;970;967;967	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	D	967;926;967;970;879	ENSP00000384657:A967D;ENSP00000383912:A926D;ENSP00000410337:A967D;ENSP00000408617:A970D	ENSP00000339165:A879D	A	+	2	0	HDAC9	18942062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.033000	0.70925	2.648000	0.89879	0.563000	0.77884	GCC		HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
DNAH11	8701	hgsc.bcm.edu	37	7	21675658	21675658	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:21675658G>T	ENST00000409508.3	+	26	4701	c.4670G>T	c.(4669-4671)cGa>cTa	p.R1557L	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1562L|DNAH11_ENST00000465593.1_3'UTR	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1562	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGATATTCGAATCCAGCTT	0.388									Kartagener syndrome																																								0			7											85.0	79.0	81.0					7																	21675658		1861	4099	5960	21642183	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4670G>T	7.37:g.21675658G>T	ENSP00000475939:p.Arg1557Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21642183	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.642157	0.87859	.	.	ENSG00000105877	ENST00000328843	T	0.62232	0.04	5.56	3.75	0.43078	Dynein heavy chain, domain-2 (1);	0.154257	0.43919	D	0.000507	T	0.67543	0.2904	.	.	.	0.49389	D	0.999787	P	0.48503	0.911	P	0.51385	0.668	T	0.70710	-0.4797	9	0.66056	D	0.02	.	10.5061	0.44834	0.1594:0.0:0.8406:0.0	.	1562	Q96DT5	DYH11_HUMAN	L	1562	ENSP00000330671:R1562L	ENSP00000330671:R1562L	R	+	2	0	DNAH11	21642183	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.730000	0.47335	1.335000	0.45486	0.650000	0.86243	CGA		DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
HECW1	23072	hgsc.bcm.edu	37	7	43547684	43547684	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:43547684G>A	ENST00000395891.2	+	23	4425	c.3820G>A	c.(3820-3822)Gag>Aag	p.E1274K	HECW1_ENST00000453890.1_Missense_Mutation_p.E1240K|AC011738.4_ENST00000436105.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1274	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTCGCGGAAAGAGCTCCAGCG	0.552																																																	0			7											78.0	81.0	80.0					7																	43547684		1972	4154	6126	43514209	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3820G>A	7.37:g.43547684G>A	ENSP00000379228:p.Glu1274Lys	Somatic		Capture	Illumina HiSeq	Phase_I	43514209	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	36	5.933300	0.97116	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.43688	0.94;0.94	5.85	5.85	0.93711	HECT (3);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.77004	0.989;0.694	T	0.62987	-0.6737	10	0.87932	D	0	.	20.1669	0.98153	0.0:0.0:1.0:0.0	.	1240;1274	B4DH42;Q76N89	.;HECW1_HUMAN	K	1274;1240;1274	ENSP00000379228:E1274K;ENSP00000407774:E1240K	ENSP00000265522:E1274K	E	+	1	0	HECW1	43514209	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.779000	0.99018	2.770000	0.95276	0.650000	0.86243	GAG		HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
EGFR	1956	hgsc.bcm.edu	37	7	55242474	55242474	+	Silent	SNP	A	A	G	rs121913438|rs121913439|rs397517098|rs121913423|rs121913422|rs121913421|rs397517094|rs121913426|rs121913425|rs121913424|rs397509368|rs121913436|rs121913437|rs121913441|rs121913440|rs121913442|rs121913435		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:55242474A>G	ENST00000275493.2	+	19	2421	c.2244A>G	c.(2242-2244)agA>agG	p.R748R	EGFR_ENST00000455089.1_Silent_p.R703R|EGFR_ENST00000454757.2_Silent_p.R695R|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	748	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|R -> P (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.E746_A750>IP(3)|p.L747_S752>Q(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.L747_P753del(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.I744_A750>VK(1)|p.K745_A750del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGGAATTAAGAGAAGCAACAT	0.478	E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1545	Deletion - In frame(1158)|Complex - deletion inframe(386)|Complex - compound substitution(1)	lung(1520)|upper_aerodigestive_tract(7)|salivary_gland(6)|thyroid(3)|large_intestine(2)|breast(2)|ovary(2)|central_nervous_system(1)|prostate(1)|kidney(1)	7											112.0	107.0	109.0					7																	55242474		2203	4300	6503	55209968	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2244A>G	7.37:g.55242474A>G		Somatic		Capture	Illumina HiSeq	Phase_I	55209968	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																				EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ZNF479	90827	hgsc.bcm.edu	37	7	57188621	57188621	+	Silent	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:57188621A>T	ENST00000331162.4	-	5	771	c.501T>A	c.(499-501)ggT>ggA	p.G167G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTGAAAATTTACCAAAGACTT	0.299																																																	0			7											32.0	31.0	31.0					7																	57188621		1820	4079	5899	57192563	SO:0001819	synonymous_variant	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.501T>A	7.37:g.57188621A>T		Somatic		Capture	Illumina HiSeq	Phase_I	57192563		Silent	SNP	ENST00000331162.4	37	CCDS43590.1																																																																																				ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
BAZ1B	9031	hgsc.bcm.edu	37	7	72891394	72891394	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:72891394T>C	ENST00000339594.4	-	7	2735	c.2397A>G	c.(2395-2397)aaA>aaG	p.K799K	BAZ1B_ENST00000404251.1_Silent_p.K799K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	799					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.K799K(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cttccatttctttccgtttct	0.398																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - coding silent(1)	ovary(1)	7											86.0	80.0	82.0					7																	72891394		2203	4300	6503	72529330	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2397A>G	7.37:g.72891394T>C		Somatic		Capture	Illumina HiSeq	Phase_I	72529330	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
BAZ1B	9031	hgsc.bcm.edu	37	7	72891549	72891549	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:72891549T>A	ENST00000339594.4	-	7	2580	c.2242A>T	c.(2242-2244)Atc>Ttc	p.I748F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.I748F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	748					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTGTCAAGATCTGTAGCTTC	0.478																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0			7											112.0	100.0	104.0					7																	72891549		2203	4300	6503	72529485	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2242A>T	7.37:g.72891549T>A	ENSP00000342434:p.Ile748Phe	Somatic		Capture	Illumina HiSeq	Phase_I	72529485	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.367044	0.61513	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.72167	-0.63;-0.63	5.79	5.79	0.91817	.	0.050134	0.85682	D	0.000000	T	0.70710	0.3255	L	0.52573	1.65	0.54753	D	0.999988	D	0.56521	0.976	P	0.46685	0.524	T	0.75252	-0.3383	10	0.87932	D	0	-18.6631	15.3014	0.73955	0.0:0.0:0.0:1.0	.	748	Q9UIG0	BAZ1B_HUMAN	F	748	ENSP00000342434:I748F;ENSP00000385442:I748F	ENSP00000342434:I748F	I	-	1	0	BAZ1B	72529485	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.219000	0.72231	2.219000	0.72066	0.459000	0.35465	ATC		BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
PHTF2	57157	hgsc.bcm.edu	37	7	77569463	77569463	+	Silent	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:77569463C>G	ENST00000248550.7	+	13	1660	c.1584C>G	c.(1582-1584)ctC>ctG	p.L528L	PHTF2_ENST00000416283.2_Silent_p.L494L|PHTF2_ENST00000422959.2_Silent_p.L494L|PHTF2_ENST00000424760.1_Silent_p.L490L|PHTF2_ENST00000307305.8_Silent_p.L490L|PHTF2_ENST00000275575.7_Silent_p.L490L			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGGAACAACTCACAGCACATT	0.378																																																	0			7											116.0	107.0	110.0					7																	77569463		1869	4106	5975	77407399	SO:0001819	synonymous_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1584C>G	7.37:g.77569463C>G		Somatic		Capture	Illumina HiSeq	Phase_I	77407399	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37																																																																																					PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
NYAP1	222950	hgsc.bcm.edu	37	7	100088675	100088675	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:100088675A>T	ENST00000300179.2	+	6	2384	c.2225A>T	c.(2224-2226)cAc>cTc	p.H742L	NYAP1_ENST00000423930.1_Missense_Mutation_p.H743L|NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000454988.1_Missense_Mutation_p.H686L	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	742					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GTCGTGCTCCACACACCCCGG	0.617																																																	0			7											21.0	22.0	22.0					7																	100088675		2173	4245	6418	99926611	SO:0001583	missense	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.2225A>T	7.37:g.100088675A>T	ENSP00000300179:p.His742Leu	Somatic		Capture	Illumina HiSeq	Phase_I	99926611	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618508	0.46736	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.30182	1.54;1.54;1.54	5.08	3.89	0.44902	.	0.134283	0.33895	N	0.004449	T	0.16471	0.0396	N	0.12182	0.205	0.35635	D	0.810556	B;B	0.17038	0.02;0.02	B;B	0.13407	0.009;0.009	T	0.11397	-1.0589	10	0.33940	T	0.23	-10.3463	9.0419	0.36322	0.814:0.186:0.0:0.0	.	686;742	C9JS30;Q6ZVC0	.;CG051_HUMAN	L	742;743;686	ENSP00000300179:H742L;ENSP00000411861:H743L;ENSP00000394424:H686L	ENSP00000300179:H742L	H	+	2	0	C7orf51	99926611	0.860000	0.29831	0.998000	0.56505	0.359000	0.29487	1.854000	0.39368	0.842000	0.35045	0.260000	0.18958	CAC		NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564	
MUC17	140453	hgsc.bcm.edu	37	7	100675088	100675088	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:100675088A>G	ENST00000306151.4	+	3	455	c.391A>G	c.(391-393)Agt>Ggt	p.S131G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	131	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTTTCCCCAGTTCTACTGA	0.468																																																	0			7											170.0	157.0	161.0					7																	100675088		2203	4300	6503	100461808	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.391A>G	7.37:g.100675088A>G	ENSP00000302716:p.Ser131Gly	Somatic		Capture	Illumina HiSeq	Phase_I	100461808	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	0.095	-1.161341	0.01673	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.801	-1.6	0.08426	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44360	-0.9333	9	0.40728	T	0.16	.	3.2032	0.06657	0.543:0.2345:0.2225:0.0	.	131	Q685J3	MUC17_HUMAN	G	131	ENSP00000302716:S131G	ENSP00000302716:S131G	S	+	1	0	MUC17	100461808	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.664000	0.00201	-2.401000	0.00578	-1.360000	0.01215	AGT		MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	hgsc.bcm.edu	37	7	100686648	100686648	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:100686648C>A	ENST00000306151.4	+	3	12015	c.11951C>A	c.(11950-11952)tCt>tAt	p.S3984Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3984					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S3984Y(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACCACATCTTTTTCAACT	0.473																																																	1	Substitution - Missense(1)	ovary(1)	7											140.0	138.0	139.0					7																	100686648		2203	4300	6503	100473368	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11951C>A	7.37:g.100686648C>A	ENSP00000302716:p.Ser3984Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100473368	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	8.106	0.777676	0.16120	.	.	ENSG00000169876	ENST00000306151	T	0.01981	4.52	1.43	-1.99	0.07457	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	P	0.42078	0.77	P	0.46253	0.509	T	0.46034	-0.9220	9	0.24483	T	0.36	.	2.8449	0.05540	0.3061:0.3887:0.3052:0.0	.	3984	Q685J3	MUC17_HUMAN	Y	3984	ENSP00000302716:S3984Y	ENSP00000302716:S3984Y	S	+	2	0	MUC17	100473368	0.000000	0.05858	0.007000	0.13788	0.536000	0.34869	-0.249000	0.08842	-0.108000	0.12066	0.424000	0.28305	TCT		MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
RELN	5649	hgsc.bcm.edu	37	7	103234213	103234213	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:103234213T>C	ENST00000428762.1	-	27	3987	c.3828A>G	c.(3826-3828)gcA>gcG	p.A1276A	RELN_ENST00000343529.5_Silent_p.A1276A|RELN_ENST00000424685.2_Silent_p.A1276A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1276					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAATATCATTGCTGATGGTG	0.403																																					NSCLC(146;835 1944 15585 22231 52158)												0			7											171.0	155.0	161.0					7																	103234213		2203	4300	6503	103021449	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3828A>G	7.37:g.103234213T>C		Somatic		Capture	Illumina HiSeq	Phase_I	103021449	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																				RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
MDFIC	29969	hgsc.bcm.edu	37	7	114619714	114619714	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:114619714C>T	ENST00000393486.1	+	4	961	c.371C>T	c.(370-372)tCa>tTa	p.S124L	MDFIC_ENST00000257724.3_Missense_Mutation_p.S233L	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CGCAAACTTTCAGCACCTGTT	0.428																																																	0			7											88.0	89.0	89.0					7																	114619714		2203	4300	6503	114406950	SO:0001583	missense	29969			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.371C>T	7.37:g.114619714C>T	ENSP00000377126:p.Ser124Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114406950		Missense_Mutation	SNP	ENST00000393486.1	37	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277075	0.95459	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	5.98	0.97165	.	0.065965	0.64402	D	0.000009	D	0.82430	0.5035	M	0.77616	2.38	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.81495	-0.0907	9	0.49607	T	0.09	-2.2248	20.452	0.99131	0.0:1.0:0.0:0.0	.	124	Q9P1T7	MDFIC_HUMAN	L	233;124;110;69	.	ENSP00000257724:S233L	S	+	2	0	MDFIC	114406950	0.999000	0.42202	0.997000	0.53966	0.989000	0.77384	6.317000	0.72862	2.838000	0.97847	0.591000	0.81541	TCA		MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121653015	121653015	+	Silent	SNP	C	C	A	rs143582826		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:121653015C>A	ENST00000393386.2	+	12	4326	c.3915C>A	c.(3913-3915)ccC>ccA	p.P1305P	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1305					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGGCCCATCCCCCAAAAGGAA	0.358																																																	0			7											74.0	66.0	69.0					7																	121653015		2203	4300	6503	121440251	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3915C>A	7.37:g.121653015C>A		Somatic		Capture	Illumina HiSeq	Phase_I	121440251	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																				PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
AASS	10157	hgsc.bcm.edu	37	7	121758477	121758477	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:121758477T>C	ENST00000393376.1	-	5	666	c.571A>G	c.(571-573)Agc>Ggc	p.S191G	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.S191G			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	191	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.S191R(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GCCTGACTGCTATTCCTGTAG	0.413																																																	1	Substitution - Missense(1)	ovary(1)	7											118.0	109.0	112.0					7																	121758477		2203	4300	6503	121545713	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.571A>G	7.37:g.121758477T>C	ENSP00000377040:p.Ser191Gly	Somatic		Capture	Illumina HiSeq	Phase_I	121545713	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	19.85	3.903752	0.72754	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	4.83	4.83	0.62350	.	0.177976	0.64402	D	0.000009	T	0.58779	0.2146	M	0.73962	2.25	0.50171	D	0.999853	P	0.40638	0.725	B	0.40982	0.345	T	0.58891	-0.7556	9	0.21014	T	0.42	-17.1179	14.6123	0.68524	0.0:0.0:0.0:1.0	.	191	Q9UDR5	AASS_HUMAN	G	191	.	ENSP00000351834:S191G	S	-	1	0	AASS	121545713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.902000	0.69869	2.046000	0.60703	0.529000	0.55759	AGC		AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
AGK	55750	hgsc.bcm.edu	37	7	141315312	141315312	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:141315312A>G	ENST00000355413.4	+	8	725	c.465A>G	c.(463-465)ggA>ggG	p.G155G	AGK_ENST00000473247.1_Silent_p.G127G|AGK_ENST00000535825.1_Silent_p.G152G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	155	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TCCCACTGGGAGAGACCAGTA	0.448																																																	0			7											183.0	185.0	184.0					7																	141315312		2203	4300	6503	140961781	SO:0001819	synonymous_variant	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.465A>G	7.37:g.141315312A>G		Somatic		Capture	Illumina HiSeq	Phase_I	140961781	Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	CCDS5865.1																																																																																				AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238	
TRPV6	55503	hgsc.bcm.edu	37	7	142574335	142574335	+	Splice_Site	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:142574335T>A	ENST00000359396.3	-	6	833	c.588A>T	c.(586-588)ggA>ggT	p.G196G	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	196					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACACTGTGTTTCCTGGGGAGG	0.567																																																	0			7											219.0	194.0	203.0					7																	142574335		2203	4300	6503	142284457	SO:0001630	splice_region_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.587-1A>T	7.37:g.142574335T>A		Somatic		Capture	Illumina HiSeq	Phase_I	142284457	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	CCDS5874.1																																																																																				TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	Silent
TPK1	27010	hgsc.bcm.edu	37	7	144345964	144345964	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:144345964G>A	ENST00000360057.3	-	5	296	c.194C>T	c.(193-195)cCt>cTt	p.P65L	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.P60L|TPK1_ENST00000378099.3_Missense_Mutation_p.P65L	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	65					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	GATGAATTCAGGCAAAAAGCT	0.313																																					Ovarian(45;88 1034 2073 5829 28455)												0			7											96.0	108.0	104.0					7																	144345964		2203	4299	6502	143976897	SO:0001583	missense	27010			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.194C>T	7.37:g.144345964G>A	ENSP00000353165:p.Pro65Leu	Somatic		Capture	Illumina HiSeq	Phase_I	143976897	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078404	0.76528	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;D;D;D	0.88046	-2.33;-1.79;-2.33;-2.33	5.92	5.92	0.95590	Thiamin pyrophosphokinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94165	0.7418	10	0.66056	D	0.02	-23.8707	15.8207	0.78638	0.0:0.0:1.0:0.0	.	65;65;60	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	L	65;60;65;65	ENSP00000353165:P65L;ENSP00000438813:P60L;ENSP00000367339:P65L;ENSP00000448655:P65L	ENSP00000353165:P65L	P	-	2	0	TPK1	143976897	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.324000	0.59228	2.809000	0.96659	0.655000	0.94253	CCT		TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	
ATG9B	285973	hgsc.bcm.edu	37	7	150720563	150720563	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr7:150720563A>T	ENST00000377974.2	-	3	703	c.628T>A	c.(628-630)Tgc>Agc	p.C210S	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Missense_Mutation_p.C210S|ATG9B_ENST00000605952.1_Missense_Mutation_p.C210S|ATG9B_ENST00000444312.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	210					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAAGATGCAGGCAAAGCCA	0.617																																																	0			7											32.0	36.0	35.0					7																	150720563		2057	4213	6270	150351496	SO:0001583	missense	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.628T>A	7.37:g.150720563A>T	ENSP00000475005:p.Cys210Ser	Somatic		Capture	Illumina HiSeq	Phase_I	150351496	A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37		.	.	.	.	.	.	.	.	.	.	A	13.48	2.250184	0.39797	.	.	ENSG00000248602	ENST00000377974;ENST00000397266;ENST00000545613	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	.	.	.	.	.	.	D	0.60160	0.987	D	0.62955	0.909	T	0.71692	-0.4516	7	0.25751	T	0.34	-31.5247	13.4119	0.60948	1.0:0.0:0.0:0.0	.	210	Q674R7	ATG9B_HUMAN	S	210	.	ENSP00000444232:C210S	C	-	1	0	AC010973.1	150351496	1.000000	0.71417	0.982000	0.44146	0.553000	0.35397	8.752000	0.91632	2.052000	0.61016	0.533000	0.62120	TGC		ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681	
HAO1	54363	hgsc.bcm.edu	37	20	7886843	7886843	+	Silent	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:7886843T>G	ENST00000378789.3	-	4	730	c.679A>C	c.(679-681)Aga>Cga	p.R227R		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	227	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GATGTCAGTCTTCTCAGCCAT	0.408																																																	0			20											163.0	154.0	157.0					20																	7886843		2203	4300	6503	7834843	SO:0001819	synonymous_variant	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.679A>C	20.37:g.7886843T>G		Somatic		Capture	Illumina HiSeq	Phase_I	7834843	Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	ENST00000378789.3	37	CCDS13100.1																																																																																				HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		
PTPRT	11122	hgsc.bcm.edu	37	20	41076870	41076870	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:41076870G>A	ENST00000373187.1	-	9	1549	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	PTPRT_ENST00000373193.3_Missense_Mutation_p.T517M|PTPRT_ENST00000373190.1_Missense_Mutation_p.T517M|PTPRT_ENST00000373198.4_Missense_Mutation_p.T517M|PTPRT_ENST00000373201.1_Missense_Mutation_p.T517M|PTPRT_ENST00000356100.2_Missense_Mutation_p.T517M|PTPRT_ENST00000373184.1_Missense_Mutation_p.T517M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	517	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCGTAGAGCGTGATGACCCC	0.502																																																	0			20											219.0	209.0	212.0					20																	41076870		1949	4151	6100	40510284	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1550C>T	20.37:g.41076870G>A	ENSP00000362283:p.Thr517Met	Somatic		Capture	Illumina HiSeq	Phase_I	40510284	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500049	0.85176	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.88	5.88	0.94601	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.109581	0.64402	D	0.000009	T	0.78451	0.4285	M	0.87758	2.905	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	P;D	0.63703	0.865;0.917	T	0.81514	-0.0898	10	0.72032	D	0.01	.	17.159	0.86799	0.0:0.0:1.0:0.0	.	517;517	O14522-1;O14522	.;PTPRT_HUMAN	M	517	ENSP00000362286:T517M;ENSP00000362283:T517M;ENSP00000362289:T517M;ENSP00000348408:T517M;ENSP00000362294:T517M;ENSP00000362280:T517M;ENSP00000362297:T517M	ENSP00000348408:T517M	T	-	2	0	PTPRT	40510284	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	6.746000	0.74866	2.782000	0.95742	0.655000	0.94253	ACG		PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
SLC13A3	64849	hgsc.bcm.edu	37	20	45194900	45194900	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:45194900T>C	ENST00000279027.4	-	11	1480	c.1462A>G	c.(1462-1464)Atc>Gtc	p.I488V	SLC13A3_ENST00000435032.1_Missense_Mutation_p.I73V|SLC13A3_ENST00000396360.1_Missense_Mutation_p.I406V|SLC13A3_ENST00000472148.1_Missense_Mutation_p.I406V|SLC13A3_ENST00000413164.2_Missense_Mutation_p.I438V|SLC13A3_ENST00000495082.1_Missense_Mutation_p.I441V|SLC13A3_ENST00000290317.5_Missense_Mutation_p.I441V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	488					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AAGATGATGATGGTCGCCGTG	0.617																																																	0			20											94.0	96.0	95.0					20																	45194900		2203	4300	6503	44628307	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1462A>G	20.37:g.45194900T>C	ENSP00000279027:p.Ile488Val	Somatic		Capture	Illumina HiSeq	Phase_I	44628307	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145051	0.57044	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11;4.11;4.11	5.25	4.14	0.48551	.	0.159490	0.56097	N	0.000039	T	0.06917	0.0176	L	0.49778	1.585	0.80722	D	1	P;P;P;B;B;P	0.43392	0.603;0.684;0.545;0.395;0.45;0.805	P;P;B;B;P;P	0.52031	0.491;0.453;0.442;0.442;0.578;0.688	T	0.38802	-0.9644	10	0.33141	T	0.24	-17.2953	11.036	0.47802	0.0:0.0736:0.0:0.9264	.	438;73;406;441;390;488	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	V	441;406;73;488;406;438;441	ENSP00000290317:I441V;ENSP00000379648:I406V;ENSP00000403394:I73V;ENSP00000279027:I488V;ENSP00000420177:I406V;ENSP00000415852:I438V;ENSP00000419621:I441V	ENSP00000279027:I488V	I	-	1	0	SLC13A3	44628307	1.000000	0.71417	0.991000	0.47740	0.686000	0.39977	6.153000	0.71819	0.825000	0.34637	-0.441000	0.05720	ATC		SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
EYA2	2139	hgsc.bcm.edu	37	20	45801436	45801436	+	Silent	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:45801436C>A	ENST00000327619.5	+	12	1493	c.1119C>A	c.(1117-1119)ggC>ggA	p.G373G	EYA2_ENST00000357410.3_Silent_p.G373G|EYA2_ENST00000317304.6_Silent_p.G343G	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	373					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGCACGGCGGCGTGGACTGGA	0.607																																					Pancreas(120;56 1725 18501 25218 43520)												0			20											109.0	88.0	95.0					20																	45801436		2203	4300	6503	45234843	SO:0001819	synonymous_variant	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1119C>A	20.37:g.45801436C>A		Somatic		Capture	Illumina HiSeq	Phase_I	45234843	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	CCDS13403.1																																																																																				EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
ZNFX1	57169	hgsc.bcm.edu	37	20	47874091	47874091	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:47874091C>T	ENST00000396105.1	-	8	2773	c.2527G>A	c.(2527-2529)Gtg>Atg	p.V843M	ZNFX1_ENST00000371754.4_Missense_Mutation_p.V843M|ZNFX1_ENST00000371752.1_Missense_Mutation_p.V843M	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	843							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCCTCACCACCTCTTCCTCC	0.567																																																	0			20											157.0	141.0	146.0					20																	47874091		2203	4300	6503	47307498	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2527G>A	20.37:g.47874091C>T	ENSP00000379412:p.Val843Met	Somatic		Capture	Illumina HiSeq	Phase_I	47307498	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134012	0.37630	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;T	0.86562	-1.85;-2.14;-2.14;-0.77;-1.48	5.87	4.92	0.64577	.	0.832431	0.10823	N	0.630267	D	0.83092	0.5179	L	0.34521	1.04	0.26474	N	0.97524	B	0.33826	0.427	B	0.37601	0.254	T	0.74490	-0.3648	10	0.48119	T	0.1	-7.7614	11.5259	0.50580	0.1405:0.724:0.1355:0.0	.	843	Q9P2E3	ZNFX1_HUMAN	M	843;843;843;843;843;647	ENSP00000360819:V843M;ENSP00000360817:V843M;ENSP00000379412:V843M;ENSP00000360809:V843M;ENSP00000413800:V647M	ENSP00000360809:V843M	V	-	1	0	ZNFX1	47307498	0.933000	0.31639	1.000000	0.80357	0.982000	0.71751	1.426000	0.34870	1.478000	0.48253	0.655000	0.94253	GTG		ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
SYCP2	10388	hgsc.bcm.edu	37	20	58467684	58467684	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:58467684T>C	ENST00000357552.3	-	23	2091	c.1866A>G	c.(1864-1866)acA>acG	p.T622T	SYCP2_ENST00000371001.2_Silent_p.T622T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	622					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTTCAATGTTTGTTACAGGTG	0.323																																																	0			20											143.0	132.0	135.0					20																	58467684		2202	4298	6500	57901079	SO:0001819	synonymous_variant	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1866A>G	20.37:g.58467684T>C		Somatic		Capture	Illumina HiSeq	Phase_I	57901079	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																				SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
ZBTB46	140685	hgsc.bcm.edu	37	20	62378349	62378349	+	Silent	SNP	C	C	T	rs5019252	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:62378349C>T	ENST00000245663.4	-	5	1854	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E	ZBTB46_ENST00000302995.2_Silent_p.E568E|ZBTB46_ENST00000395104.1_Silent_p.E568E|RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	568					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGAGTCTTCCTCATCCTTGT	0.726													c|||	1350	0.269569	0.1498	0.379	5008	,	,		10337	0.3472		0.336	False		,,,				2504	0.2055																0			20						T		770,3626		79,612,1507	25.0	24.0	25.0		1704	-7.5	0.0	20	dbSNP_113	25	2820,5768		445,1930,1919	no	coding-synonymous	ZBTB46	NM_025224.3		524,2542,3426	TT,TC,CC		32.8365,17.5159,27.6494		568/590	62378349	3590,9394	2198	4294	6492	61848793	SO:0001819	synonymous_variant	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1704G>A	20.37:g.62378349C>T		Somatic		Capture	Illumina HiSeq	Phase_I	61848793	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	CCDS13538.1																																																																																				ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
ZBTB46	140685	hgsc.bcm.edu	37	20	62378364	62378364	+	Silent	SNP	C	C	T	rs12625387	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:62378364C>T	ENST00000245663.4	-	5	1839	c.1689G>A	c.(1687-1689)gcG>gcA	p.A563A	ZBTB46_ENST00000302995.2_Silent_p.A563A|ZBTB46_ENST00000395104.1_Silent_p.A563A|RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	563					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTTGTCGTCCGCCAACAGCG	0.721													C|||	1350	0.269569	0.1392	0.3804	5008	,	,		10252	0.3452		0.3499	False		,,,				2504	0.2065																0			20						C		746,3652		73,600,1526	30.0	29.0	29.0		1689	-0.2	0.3	20	dbSNP_120	29	2911,5675		480,1951,1862	no	coding-synonymous	ZBTB46	NM_025224.3		553,2551,3388	TT,TC,CC		33.904,16.9623,28.1654		563/590	62378364	3657,9327	2199	4293	6492	61848808	SO:0001819	synonymous_variant	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1689G>A	20.37:g.62378364C>T		Somatic		Capture	Illumina HiSeq	Phase_I	61848808	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	CCDS13538.1																																																																																				ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
SAMD10	140700	hgsc.bcm.edu	37	20	62607160	62607160	+	Silent	SNP	C	C	T	rs817343	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr20:62607160C>T	ENST00000369886.3	-	4	645	c.471G>A	c.(469-471)gcG>gcA	p.A157A	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	157	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCAGCTTCTCCGCATTCAGCC	0.682													C|||	1301	0.259784	0.469	0.17	5008	,	,		18212	0.0456		0.1769	False		,,,				2504	0.3466																0			20						C		1825,2553		410,1005,774	15.0	18.0	17.0		471	-6.0	0.8	20	dbSNP_86	17	1455,7105		123,1209,2948	no	coding-synonymous	SAMD10	NM_080621.4		533,2214,3722	TT,TC,CC		16.9977,41.6857,25.3517		157/203	62607160	3280,9658	2189	4280	6469	62077604	SO:0001819	synonymous_variant	140700				CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"""Sterile alpha motif (SAM) domain containing"""	16129	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 136"""	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.471G>A	20.37:g.62607160C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62077604		Silent	SNP	ENST00000369886.3	37	CCDS13549.1																																																																																				SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080255.1	NM_080621	
RASD2	23551	hgsc.bcm.edu	37	22	35947724	35947724	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr22:35947724G>A	ENST00000216127.4	+	3	1088	c.446G>A	c.(445-447)cGc>cAc	p.R149H		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	149					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GAGCTGTGCCGCCAGGTGCCC	0.622																																																	0			22											53.0	46.0	49.0					22																	35947724		2203	4300	6503	34277670	SO:0001583	missense	23551			AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.446G>A	22.37:g.35947724G>A	ENSP00000216127:p.Arg149His	Somatic		Capture	Illumina HiSeq	Phase_I	34277670	O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560690	0.86335	.	.	ENSG00000100302	ENST00000216127	T	0.80304	-1.36	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.047201	0.85682	D	0.000000	D	0.92466	0.7608	M	0.92317	3.295	0.51482	D	0.999923	D	0.89917	1.0	D	0.80764	0.994	D	0.93779	0.7082	10	0.87932	D	0	.	19.5383	0.95264	0.0:0.0:1.0:0.0	.	149	Q96D21	RHES_HUMAN	H	149	ENSP00000216127:R149H	ENSP00000216127:R149H	R	+	2	0	RASD2	34277670	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.437000	0.73421	2.632000	0.89209	0.561000	0.74099	CGC		RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310	
PKDREJ	10343	hgsc.bcm.edu	37	22	46654759	46654759	+	Nonsense_Mutation	SNP	G	G	T	rs141748832	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr22:46654759G>T	ENST00000253255.5	-	1	4460	c.4461C>A	c.(4459-4461)taC>taA	p.Y1487*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1487					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.Y1487Y(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGCAGTTTCGTAAGCATGCC	0.488																																																	1	Substitution - coding silent(1)	endometrium(1)	22											152.0	147.0	149.0					22																	46654759		2203	4300	6503	45033423	SO:0001587	stop_gained	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4461C>A	22.37:g.46654759G>T	ENSP00000253255:p.Tyr1487*	Somatic		Capture	Illumina HiSeq	Phase_I	45033423	B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	g	37	6.553462	0.97658	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.05	-10.1	0.00402	.	2.461340	0.02328	U	0.073668	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.016	5.5277	0.16967	0.1295:0.3034:0.4453:0.1218	.	.	.	.	X	1487	.	ENSP00000253255:Y1487X	Y	-	3	2	PKDREJ	45033423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.631000	0.00206	-4.657000	0.00037	-1.241000	0.01538	TAC		PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
WDHD1	11169	hgsc.bcm.edu	37	14	55433308	55433308	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr14:55433308G>A	ENST00000360586.3	-	18	2260	c.2195C>T	c.(2194-2196)tCa>tTa	p.S732L	WDHD1_ENST00000359167.4_Missense_Mutation_p.S250L|WDHD1_ENST00000420358.2_Missense_Mutation_p.S609L|WDHD1_ENST00000421192.1_Missense_Mutation_p.S609L	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	732					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AAATATAACTGAACGCCAAAA	0.313																																																	0			14											84.0	75.0	78.0					14																	55433308		2201	4295	6496	54503058	SO:0001583	missense	11169			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2195C>T	14.37:g.55433308G>A	ENSP00000353793:p.Ser732Leu	Somatic		Capture	Illumina HiSeq	Phase_I	54503058	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982611	0.74474	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.64991	0.24;0.78;-0.13	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.974	T	0.79266	-0.1874	10	0.49607	T	0.09	.	15.8595	0.79012	0.0:0.0:0.8632:0.1368	.	250;732	F8W7P7;O75717	.;WDHD1_HUMAN	L	732;250;609	ENSP00000353793:S732L;ENSP00000352085:S250L;ENSP00000391049:S609L	ENSP00000352085:S250L	S	-	2	0	WDHD1	54503058	1.000000	0.71417	0.806000	0.32338	0.642000	0.38348	9.229000	0.95273	1.368000	0.46115	0.591000	0.81541	TCA		WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
STK11	6794	hgsc.bcm.edu	37	19	1207091	1207091	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:1207091A>G	ENST00000326873.7	+	1	1352	c.179A>G	c.(178-180)tAc>tGc	p.Y60C	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCTCTTACGGCAAGGTG	0.627		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	19	GRCh37	CI055775	STK11	I							43.0	47.0	45.0					19																	1207091		2089	4197	6286	1158091	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.179A>G	19.37:g.1207091A>G	ENSP00000324856:p.Tyr60Cys	Somatic		Capture	Illumina HiSeq	Phase_I	1158091	B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558907	0.86231	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.84146	-1.81	3.9	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92010	0.5617	10	0.87932	D	0	-28.0487	11.9419	0.52905	1.0:0.0:0.0:0.0	.	60	Q15831	STK11_HUMAN	C	60	ENSP00000324856:Y60C	ENSP00000324856:Y60C	Y	+	2	0	STK11	1158091	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.018000	0.93657	1.416000	0.47057	0.379000	0.24179	TAC		STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	
DOT1L	84444	hgsc.bcm.edu	37	19	2217862	2217862	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:2217862T>C	ENST00000398665.3	+	22	2672	c.2636T>C	c.(2635-2637)cTc>cCc	p.L879P	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	879					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CCCAACAAGCTCCCGGTCAGC	0.697																																																	0			19											18.0	24.0	22.0					19																	2217862		2155	4250	6405	2168862	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2636T>C	19.37:g.2217862T>C	ENSP00000381657:p.Leu879Pro	Somatic		Capture	Illumina HiSeq	Phase_I	2168862	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.1|23.1	4.370572|4.370572	0.82573|0.82573	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.46451|.	0.87|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71426|0.71426	0.3338|0.3338	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.976|.	D;P|.	0.87578|.	0.998;0.877|.	T|T	0.71424|0.71424	-0.4597|-0.4597	10|5	0.87932|.	D|.	0|.	-26.054|-26.054	14.2588|14.2588	0.66070|0.66070	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	879;879|.	Q8TEK3;Q8TEK3-2|.	DOT1L_HUMAN;.|.	P|P	879|666	ENSP00000381657:L879P|.	ENSP00000221482:L879P|.	L|S	+|+	2|1	0|0	DOT1L|DOT1L	2168862|2168862	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.879000|0.879000	0.50718|0.50718	7.337000|7.337000	0.79256|0.79256	1.964000|1.964000	0.57103|0.57103	0.334000|0.334000	0.21626|0.21626	CTC|TCC		DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482	
BRD4	23476	hgsc.bcm.edu	37	19	15376429	15376429	+	Silent	SNP	C	C	A	rs183675300		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:15376429C>A	ENST00000263377.2	-	5	806	c.585G>T	c.(583-585)acG>acT	p.T195T	BRD4_ENST00000360016.5_Silent_p.T195T|BRD4_ENST00000371835.4_Silent_p.T195T|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	195					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.T195T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGTTTGGTACCGTGGAAACGC	0.567			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	2	Substitution - coding silent(2)	ovary(2)	19											293.0	291.0	292.0					19																	15376429		2203	4300	6503	15237429	SO:0001819	synonymous_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.585G>T	19.37:g.15376429C>A		Somatic		Capture	Illumina HiSeq	Phase_I	15237429	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	CCDS12328.1																																																																																				BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243	
ZNF85	7639	hgsc.bcm.edu	37	19	21131694	21131694	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:21131694A>G	ENST00000328178.8	+	4	487	c.374A>G	c.(373-375)aAg>aGg	p.K125R	ZNF85_ENST00000601023.1_Missense_Mutation_p.K66R|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Missense_Mutation_p.K92R	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	125					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GATGAGTGTAAGATGCACAAA	0.323																																																	0			19											63.0	65.0	64.0					19																	21131694		2203	4299	6502	20923534	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.374A>G	19.37:g.21131694A>G	ENSP00000329793:p.Lys125Arg	Somatic		Capture	Illumina HiSeq	Phase_I	20923534	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	5.778	0.327924	0.10956	.	.	ENSG00000105750	ENST00000328178;ENST00000345030	T;T	0.05996	3.44;3.36	0.421	0.421	0.16451	.	.	.	.	.	T	0.18841	0.0452	M	0.87269	2.87	0.09310	N	1	B;B;D	0.69078	0.074;0.014;0.997	B;B;P	0.60682	0.085;0.004;0.878	T	0.09796	-1.0658	9	0.56958	D	0.05	.	2.6241	0.04924	0.6069:0.0:0.3931:0.0	.	92;66;125	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	R	125;92	ENSP00000329793:K125R;ENSP00000342340:K92R	ENSP00000329793:K125R	K	+	2	0	ZNF85	20923534	0.000000	0.05858	0.059000	0.19551	0.057000	0.15508	0.077000	0.14738	0.383000	0.24910	0.374000	0.22700	AAG		ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429	
GRAMD1A	57655	hgsc.bcm.edu	37	19	35504576	35504576	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:35504576G>T	ENST00000317991.5	+	9	1043	c.851G>T	c.(850-852)aGc>aTc	p.S284I	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.S277I|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.S371I|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.S50I	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	284						integral component of membrane (GO:0016021)		p.S284I(1)|p.S284V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCCCGAGCCAGCAGCGACGCA	0.652																																																	2	Substitution - Missense(2)	lung(2)	19											31.0	36.0	34.0					19																	35504576		2063	4198	6261	40196416	SO:0001583	missense	57655			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.851G>T	19.37:g.35504576G>T	ENSP00000441032:p.Ser284Ile	Somatic		Capture	Illumina HiSeq	Phase_I	40196416	A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637841	0.47049	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.51574	0.7;1.64;1.66	4.86	4.86	0.63082	.	0.308060	0.28257	N	0.016004	T	0.42675	0.1213	N	0.14661	0.345	0.31455	N	0.670231	P;D;D;P;P	0.64830	0.919;0.989;0.994;0.551;0.889	B;P;P;B;P	0.56960	0.316;0.651;0.81;0.444;0.726	T	0.49263	-0.8958	10	0.56958	D	0.05	.	9.0309	0.36258	0.0982:0.0:0.9018:0.0	.	284;284;50;277;371	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.;.	I	371;50;284;277	ENSP00000423728:S50I;ENSP00000441032:S284I;ENSP00000439267:S277I	ENSP00000441032:S284I	S	+	2	0	GRAMD1A	40196416	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.706000	0.54830	2.538000	0.85594	0.485000	0.47835	AGC		GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895	
CD22	933	hgsc.bcm.edu	37	19	35823643	35823643	+	Silent	SNP	C	C	T	rs139372163	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:35823643C>T	ENST00000085219.5	+	3	294	c.228C>T	c.(226-228)ctC>ctT	p.L76L	U62631.5_ENST00000597110.1_RNA|CD22_ENST00000544992.2_Silent_p.L76L|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000341773.6_Silent_p.L76L|CD22_ENST00000594250.1_Silent_p.L76L|CD22_ENST00000536635.2_Silent_p.L76L|CD22_ENST00000419549.2_5'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	76	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGACAAGACTCTATGAAAGCA	0.483																																					Ovarian(42;1009 1133 23674 26041)												0			19						C	,,,	2,4404	4.2+/-10.8	0,2,2201	100.0	95.0	97.0		228,228,228,228	-3.0	0.1	19	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	76/760,76/752,76/671,76/848	35823643	2,13004	2203	4300	6503	40515483	SO:0001819	synonymous_variant	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.228C>T	19.37:g.35823643C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40515483	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																				CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
ZNF570	148268	hgsc.bcm.edu	37	19	37976014	37976014	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:37976014C>G	ENST00000330173.1	+	5	2019	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	CTD-2086O20.3_ENST00000591976.1_lincRNA|ZNF570_ENST00000388801.3_Missense_Mutation_p.P294R|ZNF570_ENST00000586475.1_Missense_Mutation_p.P553R	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P497L(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGAGAGACCCTATGAATGT	0.448																																																	1	Substitution - Missense(1)	ovary(1)	19											111.0	114.0	113.0					19																	37976014		2203	4300	6503	42667854	SO:0001583	missense	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1490C>G	19.37:g.37976014C>G	ENSP00000331540:p.Pro497Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42667854	A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702627	0.48307	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.17213	2.29;2.29	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000910	T	0.38665	0.1049	M	0.62016	1.91	0.41698	D	0.989383	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.25082	-1.0142	10	0.72032	D	0.01	.	14.532	0.67934	0.0:1.0:0.0:0.0	.	294;497	B4DMP1;Q96NI8	.;ZN570_HUMAN	R	497;294	ENSP00000331540:P497R;ENSP00000373453:P294R	ENSP00000331540:P497R	P	+	2	0	ZNF570	42667854	0.985000	0.35326	1.000000	0.80357	0.996000	0.88848	2.814000	0.48010	2.351000	0.79841	0.563000	0.77884	CCC		ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694	
FCGBP	8857	hgsc.bcm.edu	37	19	40433812	40433812	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:40433812C>A	ENST00000221347.6	-	2	464	c.457G>T	c.(457-459)Gcc>Tcc	p.A153S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	153	IgGFc-binding.					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)			ACATTCCTGGCTGAGGTGCCG	0.602																																																	0			19											51.0	50.0	51.0					19																	40433812		2203	4300	6503	45125652	SO:0001583	missense	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.457G>T	19.37:g.40433812C>A	ENSP00000221347:p.Ala153Ser	Somatic		Capture	Illumina HiSeq	Phase_I	45125652	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	0.375	-0.932050	0.02359	.	.	ENSG00000090920	ENST00000221347	T	0.18016	2.24	4.37	-5.29	0.02747	.	1.961470	0.02998	N	0.147695	T	0.03520	0.0101	N	0.00707	-1.245	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.27434	-1.0074	10	0.12430	T	0.62	.	1.2234	0.01929	0.442:0.1665:0.1033:0.2883	.	153	Q9Y6R7	FCGBP_HUMAN	S	153	ENSP00000221347:A153S	ENSP00000221347:A153S	A	-	1	0	FCGBP	45125652	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.620000	0.00879	-0.796000	0.04456	-0.150000	0.13652	GCC		FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
CEACAM1	634	hgsc.bcm.edu	37	19	43025455	43025455	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:43025455A>G	ENST00000161559.6	-	4	1056	c.922T>C	c.(922-924)Tgc>Cgc	p.C308R	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.C308R|CEACAM1_ENST00000599389.1_Missense_Mutation_p.C308R|CEACAM1_ENST00000403444.3_Missense_Mutation_p.C308R|CEACAM1_ENST00000403461.1_Missense_Mutation_p.C308R|CEACAM1_ENST00000358394.3_Missense_Mutation_p.C308R|CEACAM1_ENST00000308072.4_Missense_Mutation_p.C268R	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	308	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.C308G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTCCTGTTGCAGCCAGTGACT	0.443																																																	1	Substitution - Missense(1)	ovary(1)	19											207.0	187.0	194.0					19																	43025455		2203	4300	6503	47717295	SO:0001583	missense	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.922T>C	19.37:g.43025455A>G	ENSP00000161559:p.Cys308Arg	Somatic		Capture	Illumina HiSeq	Phase_I	47717295	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	g	0.040	-1.290482	0.01387	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T	0.13657	2.74;2.74;2.74;2.74;2.74;2.57	5.24	3.06	0.35304	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02688	0.0081	N	0.00116	-2.08	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.40813	-0.9543	9	0.22109	T	0.4	.	7.8353	0.29365	0.2631:0.0:0.7369:0.0	.	308;308;308;308;308;308;308;308;308	P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;CEAM1_HUMAN	R	308;308;335;268;308;308;308;268;308;308;308	ENSP00000161559:C308R;ENSP00000351165:C308R;ENSP00000244291:C308R;ENSP00000384709:C308R;ENSP00000384083:C308R;ENSP00000312184:C268R	ENSP00000161559:C308R	C	-	1	0	CEACAM1	47717295	0.002000	0.14202	0.009000	0.14445	0.102000	0.19082	0.507000	0.22675	0.803000	0.34113	-0.227000	0.12334	TGC		CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712	
ZNF229	7772	hgsc.bcm.edu	37	19	44934173	44934173	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:44934173T>C	ENST00000588931.1	-	6	1216	c.783A>G	c.(781-783)ggA>ggG	p.G261G	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.G255G|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G261G(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCCATTCTCTCCAGGGTTAA	0.423																																																	1	Substitution - coding silent(1)	ovary(1)	19											101.0	94.0	96.0					19																	44934173		1910	4107	6017	49626013	SO:0001819	synonymous_variant	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.783A>G	19.37:g.44934173T>C		Somatic		Capture	Illumina HiSeq	Phase_I	49626013	B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	CCDS42574.1																																																																																				ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
EML2	24139	hgsc.bcm.edu	37	19	46128003	46128003	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:46128003C>A	ENST00000245925.3	-	9	865	c.815G>T	c.(814-816)gGg>gTg	p.G272V	EML2_ENST00000589876.1_Missense_Mutation_p.G272V|EML2_ENST00000587152.1_Missense_Mutation_p.G473V|EML2_ENST00000536630.1_Missense_Mutation_p.G419V|EML2_ENST00000586902.1_5'UTR	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	272	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAGGTTCCCCCCAGAGTCCCC	0.537																																																	0			19											85.0	63.0	71.0					19																	46128003		2203	4300	6503	50819843	SO:0001583	missense	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.815G>T	19.37:g.46128003C>A	ENSP00000245925:p.Gly272Val	Somatic		Capture	Illumina HiSeq	Phase_I	50819843	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813421	0.70912	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.46819	0.86;0.86;4.96	4.09	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.110120	0.64402	D	0.000011	T	0.43986	0.1272	L	0.29908	0.895	0.58432	D	0.999996	D;P;P;P	0.52996	0.957;0.849;0.779;0.554	P;P;B;B	0.52823	0.71;0.467;0.299;0.424	T	0.43147	-0.9409	10	0.87932	D	0	-16.4938	7.6226	0.28193	0.0:0.8844:0.0:0.1156	.	272;438;419;272	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	V	419;272;473;430	ENSP00000442365:G419V;ENSP00000245925:G272V;ENSP00000382503:G430V	ENSP00000245925:G272V	G	-	2	0	EML2	50819843	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	2.847000	0.48270	2.117000	0.64856	0.650000	0.86243	GGG		EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
LIG1	3978	hgsc.bcm.edu	37	19	48657141	48657141	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:48657141T>C	ENST00000263274.7	-	6	873	c.454A>G	c.(454-456)Aag>Gag	p.K152E	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000599165.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.K122E	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	152			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.K152E(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	tcctcctccttcttcctcttg	0.582								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	large_intestine(1)	19											196.0	113.0	141.0					19																	48657141		2203	4300	6503	53348953	SO:0001583	missense	26018				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.454A>G	19.37:g.48657141T>C	ENSP00000263274:p.Lys152Glu	Somatic		Capture	Illumina HiSeq	Phase_I	53348953	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	6.303	0.423919	0.11928	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526	T;T	0.58506	0.44;0.33	3.99	3.99	0.46301	.	0.866238	0.10215	N	0.701604	T	0.46908	0.1417	L	0.54323	1.7	0.80722	D	1	B;B	0.30482	0.281;0.231	B;B	0.27608	0.081;0.027	T	0.33445	-0.9868	10	0.05959	T	0.93	-18.4584	9.5636	0.39385	0.0:0.0:0.0:1.0	.	122;152	B4DTU4;P18858	.;DNLI1_HUMAN	E	152;184;122	ENSP00000263274:K152E;ENSP00000442841:K122E	ENSP00000263274:K152E	K	-	1	0	LIG1	53348953	0.563000	0.26594	0.998000	0.56505	0.189000	0.23516	1.790000	0.38734	2.028000	0.59812	0.496000	0.49642	AAG		LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
SPIB	6689	hgsc.bcm.edu	37	19	50931488	50931488	+	Silent	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:50931488G>A	ENST00000595883.1	+	6	709	c.684G>A	c.(682-684)gcG>gcA	p.A228A	SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000439922.2_Silent_p.A137A|SPIB_ENST00000596074.1_3'UTR|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.A363T	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	228					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGAAGCTGGCGCGCGCCCTCC	0.662																																																	0			19											29.0	24.0	26.0					19																	50931488		2175	4253	6428	55623300	SO:0001819	synonymous_variant	6689				CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.684G>A	19.37:g.50931488G>A		Somatic		Capture	Illumina HiSeq	Phase_I	55623300	A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	CCDS33080.1																																																																																				SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121	
ADRB3	155	hgsc.bcm.edu	37	8	37823967	37823967	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:37823967C>A	ENST00000345060.3	-	1	516	c.21G>T	c.(19-21)gaG>gaT	p.E7D	ADRB3_ENST00000520341.1_5'Flank	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	7					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	GAGAGCTGTTCTCGTGAGGCC	0.692																																																	0			8											12.0	15.0	14.0					8																	37823967		2195	4293	6488	37943124	SO:0001583	missense	155			AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.21G>T	8.37:g.37823967C>A	ENSP00000343782:p.Glu7Asp	Somatic		Capture	Illumina HiSeq	Phase_I	37943124	Q4JFT4	Missense_Mutation	SNP	ENST00000345060.3	37	CCDS6099.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311756	0.10789	.	.	ENSG00000188778	ENST00000345060	T	0.55588	0.51	4.16	0.33	0.15929	.	1.000120	0.08080	N	1.000000	T	0.35970	0.0950	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.20384	0.029	T	0.31724	-0.9933	10	0.56958	D	0.05	.	4.7949	0.13267	0.0:0.4405:0.3023:0.2572	.	7	P13945	ADRB3_HUMAN	D	7	ENSP00000343782:E7D	ENSP00000343782:E7D	E	-	3	2	ADRB3	37943124	0.001000	0.12720	0.114000	0.21550	0.073000	0.16967	-0.088000	0.11198	-0.048000	0.13401	0.462000	0.41574	GAG		ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025	
ZFHX4	79776	hgsc.bcm.edu	37	8	77617811	77617811	+	Silent	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:77617811T>A	ENST00000521891.2	+	2	1936	c.1488T>A	c.(1486-1488)ggT>ggA	p.G496G	ZFHX4_ENST00000050961.6_Silent_p.G496G|ZFHX4_ENST00000455469.2_Silent_p.G496G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.G496G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAGTATTGGTAACAAAGATT	0.423										HNSCC(33;0.089)																																							0			8											48.0	48.0	48.0					8																	77617811		1958	4144	6102	77780366	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1488T>A	8.37:g.77617811T>A		Somatic		Capture	Illumina HiSeq	Phase_I	77780366	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
MMP16	4325	hgsc.bcm.edu	37	8	89128916	89128916	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:89128916T>C	ENST00000286614.6	-	6	1184	c.903A>G	c.(901-903)agA>agG	p.R301R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	301					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCGGTAGAGGTCTTGTAGGTG	0.512																																																	0			8											198.0	205.0	202.0					8																	89128916		2203	4300	6503	89198032	SO:0001819	synonymous_variant	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.903A>G	8.37:g.89128916T>C		Somatic		Capture	Illumina HiSeq	Phase_I	89198032	B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	CCDS6246.1																																																																																				MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
EIF3E	3646	hgsc.bcm.edu	37	8	109240604	109240604	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:109240604A>G	ENST00000220849.5	-	7	676	c.614T>C	c.(613-615)cTt>cCt	p.L205P	RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.L112P	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.L205H(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAGAGACTGAAGTGGAGAACT	0.348																																					GBM(15;360 410 8460 34179 52246)												1	Substitution - Missense(1)	ovary(1)	8											74.0	74.0	74.0					8																	109240604		2203	4300	6503	109309780	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.614T>C	8.37:g.109240604A>G	ENSP00000220849:p.Leu205Pro	Somatic		Capture	Illumina HiSeq	Phase_I	109309780		Missense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403034	0.83230	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.50277	0.75;0.75;0.75	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	T	0.79902	-0.1607	10	0.87932	D	0	-11.5618	15.9153	0.79512	1.0:0.0:0.0:0.0	.	205;205	B2R806;P60228	.;EIF3E_HUMAN	P	205;112;78	ENSP00000220849:L205P;ENSP00000428796:L112P;ENSP00000430839:L78P	ENSP00000220849:L205P	L	-	2	0	EIF3E	109309780	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.287000	0.95975	2.213000	0.71641	0.477000	0.44152	CTT		EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568	
CSMD3	114788	hgsc.bcm.edu	37	8	113293501	113293501	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:113293501A>T	ENST00000297405.5	-	59	9654	c.9410T>A	c.(9409-9411)gTc>gAc	p.V3137D	CSMD3_ENST00000352409.3_Missense_Mutation_p.V3067D|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2968D|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3097D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3137	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAATAAATGACTGAACTAGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											127.0	112.0	117.0					8																	113293501		2203	4300	6503	113362677	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.9410T>A	8.37:g.113293501A>T	ENSP00000297405:p.Val3137Asp	Somatic		Capture	Illumina HiSeq	Phase_I	113362677	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.267782	0.80469	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (3);	0.338199	0.27327	N	0.019879	D	0.89518	0.6738	H	0.97315	3.98	0.80722	D	1	D;D;D	0.67145	0.996;0.98;0.971	D;D;P	0.70716	0.97;0.953;0.894	D	0.93185	0.6578	10	0.87932	D	0	.	15.6084	0.76692	1.0:0.0:0.0:0.0	.	2968;3137;3097	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	3097;3137;2407;2968;3067	ENSP00000345799:V3097D;ENSP00000297405:V3137D;ENSP00000341558:V2407D;ENSP00000412263:V2968D;ENSP00000343124:V3067D	ENSP00000297405:V3137D	V	-	2	0	CSMD3	113362677	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	9.284000	0.95882	2.086000	0.62901	0.524000	0.50904	GTC		CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRIB1	10221	hgsc.bcm.edu	37	8	126448706	126448706	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:126448706T>C	ENST00000519576.1	+	2	682	c.419T>C	c.(418-420)tTc>tCc	p.F140S	TRIB1_ENST00000311922.3_Missense_Mutation_p.F371S|TRIB1_ENST00000520847.1_Missense_Mutation_p.F205S					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGTTCCTTCTTCTGCTAATCC	0.453																																																	0			8											65.0	67.0	66.0					8																	126448706		2203	4300	6503	126517888	SO:0001583	missense	10221			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.419T>C	8.37:g.126448706T>C	ENSP00000428879:p.Phe140Ser	Somatic		Capture	Illumina HiSeq	Phase_I	126517888		Missense_Mutation	SNP	ENST00000519576.1	37		.	.	.	.	.	.	.	.	.	.	T	18.41	3.617795	0.66787	.	.	ENSG00000173334	ENST00000311922;ENST00000520847;ENST00000519576	T;T;T	0.48836	0.8;0.89;1.13	5.88	5.88	0.94601	.	0.000000	0.34531	U	0.003885	T	0.54647	0.1871	L	0.32530	0.975	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.58154	-0.7686	10	0.87932	D	0	-27.9815	15.9721	0.80027	0.0:0.0:0.0:1.0	.	371	Q96RU8	TRIB1_HUMAN	S	371;205;140	ENSP00000312150:F371S;ENSP00000429063:F205S;ENSP00000428879:F140S	ENSP00000312150:F371S	F	+	2	0	TRIB1	126517888	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.764000	0.62264	2.257000	0.74773	0.459000	0.35465	TTC		TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195	
KCNQ3	3786	hgsc.bcm.edu	37	8	133196504	133196504	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:133196504C>A	ENST00000388996.4	-	3	1008	c.588G>T	c.(586-588)aaG>aaT	p.K196N	KCNQ3_ENST00000521134.1_Missense_Mutation_p.K76N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.K196N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	196					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGCACAGGGGCTTCCTGGCAA	0.522																																																	0			8											94.0	94.0	94.0					8																	133196504		2203	4300	6503	133265686	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.588G>T	8.37:g.133196504C>A	ENSP00000373648:p.Lys196Asn	Somatic		Capture	Illumina HiSeq	Phase_I	133265686	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793099	0.70452	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98329	-4.87;-4.87;-4.87	5.87	4.06	0.47325	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	L	0.36672	1.1	0.48341	D	0.99963	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97692	1.0179	10	0.87932	D	0	-29.2397	9.3712	0.38254	0.0:0.7807:0.0:0.2193	.	196;196	E7ET42;O43525	.;KCNQ3_HUMAN	N	196;76;196;185;75	ENSP00000373648:K196N;ENSP00000429799:K76N;ENSP00000428790:K196N	ENSP00000373648:K196N	K	-	3	2	KCNQ3	133265686	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.286000	0.33273	1.480000	0.48289	0.655000	0.94253	AAG		KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
TG	7038	hgsc.bcm.edu	37	8	133882057	133882057	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:133882057G>A	ENST00000220616.4	+	3	300	c.260G>A	c.(259-261)gGa>gAa	p.G87E	TG_ENST00000377869.1_Missense_Mutation_p.G87E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	87	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGCAGCCAGGACGGCCTGTG	0.627																																																	0			8											51.0	48.0	49.0					8																	133882057		2203	4300	6503	133951239	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.260G>A	8.37:g.133882057G>A	ENSP00000220616:p.Gly87Glu	Somatic		Capture	Illumina HiSeq	Phase_I	133951239	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.937079	0.34189	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.64085	-0.08;-0.08	5.16	4.28	0.50868	Thyroglobulin type-1 (5);	0.102227	0.43260	D	0.000600	T	0.65133	0.2662	M	0.83953	2.67	0.35251	D	0.778671	P	0.38420	0.63	B	0.36534	0.227	T	0.77512	-0.2560	10	0.87932	D	0	.	13.2177	0.59869	0.0:0.1593:0.8407:0.0	.	87	P01266	THYG_HUMAN	E	87	ENSP00000367100:G87E;ENSP00000220616:G87E	ENSP00000220616:G87E	G	+	2	0	TG	133951239	1.000000	0.71417	0.020000	0.16555	0.397000	0.30659	3.849000	0.55910	1.160000	0.42584	0.462000	0.41574	GGA		TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
BAI1	575	hgsc.bcm.edu	37	8	143603366	143603366	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:143603366T>A	ENST00000517894.1	+	21	3959	c.3065T>A	c.(3064-3066)tTc>tAc	p.F1022Y	BAI1_ENST00000323289.5_Missense_Mutation_p.F1022Y			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1022					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)			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)					CACTTCTTCTTCCTGTCCTCC	0.692																																																	0			8											40.0	47.0	45.0					8																	143603366		2198	4296	6494	143600368	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.3065T>A	8.37:g.143603366T>A	ENSP00000430945:p.Phe1022Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	143600368		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	T	20.5	4.008632	0.75046	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.47177	0.85;0.85	3.5	3.5	0.40072	.	0.143965	0.47093	U	0.000251	T	0.49830	0.1580	L	0.36672	1.1	0.54753	D	0.999986	P	0.44006	0.824	P	0.54499	0.754	T	0.44787	-0.9305	10	0.40728	T	0.16	.	11.1951	0.48709	0.0:0.0:0.0:1.0	.	1022	E9PBK0	.	Y	1022	ENSP00000430945:F1022Y;ENSP00000313046:F1022Y	ENSP00000313046:F1022Y	F	+	2	0	BAI1	143600368	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.769000	0.85360	1.218000	0.43458	0.254000	0.18369	TTC		BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702	
CCNL2	81669	hgsc.bcm.edu	37	1	1322689	1322689	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:1322689T>C	ENST00000400809.3	-	11	1490	c.1485A>G	c.(1483-1485)cgA>cgG	p.R495R	CCNL2_ENST00000408952.5_Silent_p.R273R|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	495					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCGAGCGCTCTCGTCGCTGAT	0.592																																																	0			1											151.0	159.0	157.0					1																	1322689		2203	4296	6499	1312552	SO:0001819	synonymous_variant	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1485A>G	1.37:g.1322689T>C		Somatic		Capture	Illumina HiSeq	Phase_I	1312552	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	CCDS30557.1																																																																																				CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937	
CROCC	9696	hgsc.bcm.edu	37	1	17281854	17281854	+	Silent	SNP	C	C	T	rs150383004	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:17281854C>T	ENST00000375541.5	+	24	3582	c.3513C>T	c.(3511-3513)gaC>gaT	p.D1171D		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ATGCCCGTGACGGGCTGCGGC	0.716																																																	0			1						C		2,4354		0,2,2176	16.0	20.0	19.0		3513	-8.6	0.0	1	dbSNP_134	19	2,8550		0,2,4274	no	coding-synonymous	CROCC	NM_014675.3		0,4,6450	TT,TC,CC		0.0234,0.0459,0.031		1171/2018	17281854	4,12904	2178	4276	6454	17154441	SO:0001819	synonymous_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3513C>T	1.37:g.17281854C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17154441		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																				CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	
ARID1A	8289	hgsc.bcm.edu	37	1	27056181	27056181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:27056181C>T	ENST00000324856.7	+	2	1548	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q393*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q10*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	393					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q393*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGAGACCTCAGCCATATGG	0.527			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	ovary(1)	1											107.0	109.0	109.0					1																	27056181		2203	4300	6503	26928768	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1177C>T	1.37:g.27056181C>T	ENSP00000320485:p.Gln393*	Somatic		Capture	Illumina HiSeq	Phase_I	26928768	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	37	6.437309	0.97568	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	6.16	6.16	0.99307	.	0.059713	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.5437	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	393;393;10;10	.	ENSP00000320485:Q393X	Q	+	1	0	ARID1A	26928768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.937000	0.99478	0.650000	0.86243	CAG		ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
EIF3I	8668	hgsc.bcm.edu	37	1	32691860	32691860	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:32691860C>T	ENST00000373586.1	+	5	411	c.339C>T	c.(337-339)gaC>gaT	p.D113D	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TCTCCACGGACAAGCAGATGG	0.557																																					Colon(102;1138 2140 2180 17876)												0			1											106.0	100.0	102.0					1																	32691860		2203	4300	6503	32464447	SO:0001819	synonymous_variant	8668			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.339C>T	1.37:g.32691860C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32464447		Silent	SNP	ENST00000373586.1	37	CCDS357.1																																																																																				EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2	NM_003757	
CSMD2	114784	hgsc.bcm.edu	37	1	34209047	34209047	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:34209047A>G	ENST00000373381.4	-	14	2183	c.2007T>C	c.(2005-2007)ttT>ttC	p.F669F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	629	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGGAAATCAAACTGAGGCT	0.607																																																	0			1											82.0	82.0	82.0					1																	34209047		2203	4300	6503	33981634	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2007T>C	1.37:g.34209047A>G		Somatic		Capture	Illumina HiSeq	Phase_I	33981634	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
GRIK3	2899	hgsc.bcm.edu	37	1	37325531	37325531	+	Missense_Mutation	SNP	C	C	A	rs373548070		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:37325531C>A	ENST00000373091.3	-	6	890	c.874G>T	c.(874-876)Gtc>Ttc	p.V292F	GRIK3_ENST00000462621.1_5'Flank|GRIK3_ENST00000373093.4_Missense_Mutation_p.V292F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	292					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ATGGCCGAGACGTGTGGGTTG	0.587																																																	0			1											101.0	105.0	103.0					1																	37325531		2203	4300	6503	37098118	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.874G>T	1.37:g.37325531C>A	ENSP00000362183:p.Val292Phe	Somatic		Capture	Illumina HiSeq	Phase_I	37098118	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983410	0.93044	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.80994	-1.44;-1.44	5.7	5.7	0.88788	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90383	0.6990	M	0.82132	2.575	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	D	0.89543	0.3794	10	0.45353	T	0.12	.	19.8471	0.96713	0.0:1.0:0.0:0.0	.	292;292	A9Z1Z8;Q13003	.;GRIK3_HUMAN	F	292	ENSP00000362183:V292F;ENSP00000362185:V292F	ENSP00000362183:V292F	V	-	1	0	GRIK3	37098118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.688000	0.91661	0.655000	0.94253	GTC		GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
TIE1	7075	hgsc.bcm.edu	37	1	43783728	43783728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:43783728C>A	ENST00000372476.3	+	17	2986	c.2907C>A	c.(2905-2907)taC>taA	p.Y969*	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Nonsense_Mutation_p.Y614*	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	969	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCATGCAGTACCTGAGTGAGA	0.612																																																	0			1											49.0	50.0	50.0					1																	43783728		2203	4300	6503	43556315	SO:0001587	stop_gained	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2907C>A	1.37:g.43783728C>A	ENSP00000361554:p.Tyr969*	Somatic		Capture	Illumina HiSeq	Phase_I	43556315	B5A949|B5A950	Nonsense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	41	8.840990	0.98974	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	.	.	.	6.06	4.13	0.48395	.	0.000000	0.35495	N	0.003180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.143	0.48413	0.0:0.8449:0.0:0.1551	.	.	.	.	X	969;372;252;614	.	ENSP00000361553:Y372X	Y	+	3	2	TIE1	43556315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.084000	0.41625	0.811000	0.34303	0.655000	0.94253	TAC		TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
ZCCHC11	23318	hgsc.bcm.edu	37	1	52937648	52937648	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:52937648C>G	ENST00000371544.3	-	14	3116	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D952H|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	952					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CATACTAAATCAAGTATTTCC	0.303																																																	0			1											79.0	78.0	78.0					1																	52937648		2203	4300	6503	52710236	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2854G>C	1.37:g.52937648C>G	ENSP00000360599:p.Asp952His	Somatic		Capture	Illumina HiSeq	Phase_I	52710236	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674740	0.88445	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.56	5.56	0.83823	.	0.101890	0.64402	D	0.000003	T	0.65312	0.2679	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68621	0.947;0.959	T	0.66724	-0.5851	10	0.62326	D	0.03	.	19.5244	0.95197	0.0:1.0:0.0:0.0	.	711;952	E9PKX1;Q5TAX3	.;TUT4_HUMAN	H	952;952;881;711	ENSP00000257177:D952H;ENSP00000360599:D952H;ENSP00000433486:D881H;ENSP00000435256:D711H	ENSP00000257177:D952H	D	-	1	0	ZCCHC11	52710236	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.267000	0.78462	2.619000	0.88677	0.650000	0.86243	GAT		ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
L1TD1	54596	hgsc.bcm.edu	37	1	62675768	62675768	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:62675768A>G	ENST00000498273.1	+	4	1617	c.1322A>G	c.(1321-1323)gAa>gGa	p.E441G	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	441	Glu-rich.							p.E441G(1)|p.E441V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CAGACTTCAGAACAGGACTCA	0.493																																																	2	Substitution - Missense(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	1											72.0	68.0	69.0					1																	62675768		2203	4300	6503	62448356	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1322A>G	1.37:g.62675768A>G	ENSP00000419901:p.Glu441Gly	Somatic		Capture	Illumina HiSeq	Phase_I	62448356	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569768	0.28003	.	.	ENSG00000240563	ENST00000498273	T	0.15952	2.38	1.53	-3.07	0.05363	.	.	.	.	.	T	0.08313	0.0207	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.29971	-0.9994	9	0.48119	T	0.1	.	0.229	0.00177	0.2447:0.1972:0.1663:0.3918	.	441	Q5T7N2	LITD1_HUMAN	G	441	ENSP00000419901:E441G	ENSP00000419901:E441G	E	+	2	0	L1TD1	62448356	0.005000	0.15991	0.000000	0.03702	0.673000	0.39480	0.035000	0.13797	-1.938000	0.01046	0.172000	0.16884	GAA		L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
LRRIQ3	127255	hgsc.bcm.edu	37	1	74649272	74649272	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:74649272C>G	ENST00000395089.1	-	1	96	c.97G>C	c.(97-99)Gtg>Ctg	p.V33L	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.V33L|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.V33L|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.V33L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	33										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ttgaacttcacaaaaacaAAA	0.333																																																	0			1											57.0	60.0	59.0					1																	74649272		2200	4295	6495	74421860	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.97G>C	1.37:g.74649272C>G	ENSP00000378524:p.Val33Leu	Somatic		Capture	Illumina HiSeq	Phase_I	74421860	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701272	0.30142	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.31247	2.55;2.55;1.5;2.55	5.06	-1.99	0.07457	.	0.783752	0.10842	N	0.628097	T	0.04363	0.0120	N	0.17082	0.46	0.25114	N	0.990692	B	0.26708	0.157	B	0.20767	0.031	T	0.42682	-0.9437	10	0.14656	T	0.56	.	7.1773	0.25753	0.0:0.4068:0.1139:0.4793	.	33	A6PVS8	LRIQ3_HUMAN	L	33	ENSP00000378524:V33L;ENSP00000346414:V33L;ENSP00000359946:V33L;ENSP00000359948:V33L	ENSP00000346414:V33L	V	-	1	0	LRRIQ3	74421860	0.995000	0.38212	0.966000	0.40874	0.971000	0.66376	0.509000	0.22707	-0.310000	0.08766	-0.302000	0.09304	GTG		LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
MSH4	4438	hgsc.bcm.edu	37	1	76262704	76262704	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:76262704T>A	ENST00000263187.3	+	1	138	c.34T>A	c.(34-36)Tct>Act	p.S12T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	12					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AACCTCGCCTTCTGCCCCGGC	0.607								Mismatch excision repair (MMR)																																									0			1											45.0	44.0	44.0					1																	76262704		2203	4300	6503	76035292	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.34T>A	1.37:g.76262704T>A	ENSP00000263187:p.Ser12Thr	Somatic		Capture	Illumina HiSeq	Phase_I	76035292	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864414	0.32977	.	.	ENSG00000057468	ENST00000263187	D	0.89123	-2.47	2.97	2.97	0.34412	.	.	.	.	.	T	0.60932	0.2307	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.55854	-0.8075	9	0.66056	D	0.02	-0.0887	4.8348	0.13458	0.0:0.1408:0.0:0.8592	.	12	O15457	MSH4_HUMAN	T	12	ENSP00000263187:S12T	ENSP00000263187:S12T	S	+	1	0	MSH4	76035292	0.004000	0.15560	0.003000	0.11579	0.205000	0.24178	0.347000	0.20014	1.596000	0.50062	0.260000	0.18958	TCT		MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
ZNF644	84146	hgsc.bcm.edu	37	1	91404921	91404921	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:91404921T>C	ENST00000370440.1	-	3	2207	c.1990A>G	c.(1990-1992)Aca>Gca	p.T664A	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T664A			Q9H582	ZN644_HUMAN	zinc finger protein 644	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GATCCAAATGTTCGCTTCACA	0.373																																																	0			1											141.0	140.0	140.0					1																	91404921		2203	4300	6503	91177509	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1990A>G	1.37:g.91404921T>C	ENSP00000359469:p.Thr664Ala	Somatic		Capture	Illumina HiSeq	Phase_I	91177509	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	9.117	1.007980	0.19199	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00578	6.44;6.44	6.02	2.52	0.30459	.	0.493565	0.22492	N	0.059345	T	0.00144	0.0004	L	0.36672	1.1	0.28812	N	0.898193	B	0.22480	0.07	B	0.21546	0.035	T	0.41520	-0.9504	10	0.07813	T	0.8	-3.0935	1.2141	0.01910	0.1242:0.2128:0.2174:0.4457	.	664	Q9H582	ZN644_HUMAN	A	664;664;236	ENSP00000359469:T664A;ENSP00000337008:T664A	ENSP00000337008:T664A	T	-	1	0	ZNF644	91177509	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.816000	0.27267	0.186000	0.20125	-0.263000	0.10527	ACA		ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
CELSR2	1952	hgsc.bcm.edu	37	1	109814051	109814051	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:109814051G>A	ENST00000271332.3	+	27	7781	c.7720G>A	c.(7720-7722)Gcc>Acc	p.A2574T	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2574					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTGCTGAGCGCCACGTGGCT	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)												0			1											103.0	85.0	91.0					1																	109814051		2203	4300	6503	109615574	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7720G>A	1.37:g.109814051G>A	ENSP00000271332:p.Ala2574Thr	Somatic		Capture	Illumina HiSeq	Phase_I	109615574	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743967	0.49151	.	.	ENSG00000143126	ENST00000271332	T	0.44482	0.92	4.59	3.67	0.42095	GPCR, family 2-like (1);	.	.	.	.	T	0.26593	0.0650	L	0.28344	0.845	0.31364	N	0.681051	D	0.56521	0.976	P	0.52909	0.713	T	0.04579	-1.0941	9	0.36615	T	0.2	.	13.7527	0.62917	0.0:0.0:0.8449:0.1551	.	2574	Q9HCU4	CELR2_HUMAN	T	2574	ENSP00000271332:A2574T	ENSP00000271332:A2574T	A	+	1	0	CELSR2	109615574	0.048000	0.20356	0.457000	0.27056	0.833000	0.47200	1.581000	0.36558	1.124000	0.41980	0.561000	0.74099	GCC		CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
REG4	83998	hgsc.bcm.edu	37	1	120341217	120341217	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:120341217C>T	ENST00000354219.1	-	6	751	c.312G>A	c.(310-312)caG>caA	p.Q104Q	REG4_ENST00000530654.1_Intron|REG4_ENST00000256585.5_Silent_p.Q104Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	104	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TCCACTGCCACTGCTGCCTCT	0.517																																																	0			1											137.0	127.0	130.0					1																	120341217		2203	4300	6503	120142740	SO:0001819	synonymous_variant	83998			AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.312G>A	1.37:g.120341217C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120142740	Q8NER6|Q8NER7	Silent	SNP	ENST00000354219.1	37	CCDS906.1																																																																																				REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044	
FLG	2312	hgsc.bcm.edu	37	1	152278093	152278093	+	Missense_Mutation	SNP	C	C	T	rs553781249	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:152278093C>T	ENST00000368799.1	-	3	9304	c.9269G>A	c.(9268-9270)cGc>cAc	p.R3090H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3090	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)			CTGCTCATGGCGGGATCCTTG	0.582									Ichthyosis				c|||	13	0.00259585	0.0091	0.0	5008	,	,		16620	0.0		0.0	False		,,,				2504	0.001																0			1																																								150544717	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.9269G>A	1.37:g.152278093C>T	ENSP00000357789:p.Arg3090His	Somatic		Capture	Illumina HiSeq	Phase_I	150544717	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	5.948	0.358913	0.11239	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.1	-3.68	0.04463	.	.	.	.	.	T	0.00271	0.0008	N	0.04636	-0.2	0.09310	N	1	P	0.35155	0.487	B	0.24541	0.054	T	0.45614	-0.9249	9	0.44086	T	0.13	.	4.4892	0.11805	0.0:0.3239:0.3493:0.3268	.	3090	P20930	FILA_HUMAN	H	3090	ENSP00000357789:R3090H	ENSP00000357789:R3090H	R	-	2	0	FLG	150544717	0.960000	0.32886	0.000000	0.03702	0.097000	0.18754	-0.243000	0.08915	-0.962000	0.03604	-0.384000	0.06662	CGC		FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
KCNN3	3782	hgsc.bcm.edu	37	1	154842330	154842330	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:154842330T>C	ENST00000271915.4	-	1	426	c.111A>G	c.(109-111)caA>caG	p.Q37Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	37	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgttgctgctgct	0.677																																																	0			1											8.0	8.0	8.0					1																	154842330		1936	3838	5774	153108954	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.111A>G	1.37:g.154842330T>C		Somatic		Capture	Illumina HiSeq	Phase_I	153108954	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																				KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
ASH1L	55870	hgsc.bcm.edu	37	1	155313423	155313423	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:155313423G>A	ENST00000368346.3	-	23	8746	c.8107C>T	c.(8107-8109)Cgc>Tgc	p.R2703C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2698C|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2703	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCTCAATGCGAAAGATGTCA	0.488																																																	0			1											111.0	105.0	107.0					1																	155313423		2203	4300	6503	153580047	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8107C>T	1.37:g.155313423G>A	ENSP00000357330:p.Arg2703Cys	Somatic		Capture	Illumina HiSeq	Phase_I	153580047	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.342670	0.82022	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.87809	-2.3;-2.3	4.82	3.88	0.44766	Bromo adjacent homology (BAH) domain (3);	0.055371	0.64402	D	0.000001	D	0.89223	0.6654	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.90640	0.4574	10	0.87932	D	0	.	13.7104	0.62665	0.0:0.0:0.8394:0.1606	.	2703;2698	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	C	2703;2698	ENSP00000357330:R2703C;ENSP00000376204:R2698C	ENSP00000357330:R2703C	R	-	1	0	ASH1L	153580047	1.000000	0.71417	0.969000	0.41365	0.982000	0.71751	6.019000	0.70818	1.178000	0.42870	0.561000	0.74099	CGC		ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
FCRL3	115352	hgsc.bcm.edu	37	1	157668305	157668305	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:157668305G>A	ENST00000368184.3	-	4	458	c.167C>T	c.(166-168)aCa>aTa	p.T56I	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'Flank|FCRL3_ENST00000368186.5_Missense_Mutation_p.T56I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	56	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATACCAATATGTGTCTCCCTG	0.448																																																	0			1											192.0	169.0	177.0					1																	157668305		2203	4300	6503	155934929	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.167C>T	1.37:g.157668305G>A	ENSP00000357167:p.Thr56Ile	Somatic		Capture	Illumina HiSeq	Phase_I	155934929	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	2.629	-0.286780	0.05605	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.11063	2.81;2.81	5.46	-0.143	0.13444	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.054180	0.02832	N	0.126886	T	0.02156	0.0067	N	0.13327	0.33	0.09310	N	1	B;B	0.24186	0.099;0.081	B;B	0.28011	0.085;0.051	T	0.44772	-0.9306	10	0.21540	T	0.41	.	9.45	0.38721	0.661:0.0:0.339:0.0	.	56;56	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	56	ENSP00000357169:T56I;ENSP00000357167:T56I	ENSP00000292392:T56I	T	-	2	0	FCRL3	155934929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.445000	0.06845	-0.053000	0.13289	0.591000	0.81541	ACA		FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
CD1E	913	hgsc.bcm.edu	37	1	158324361	158324361	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:158324361T>G	ENST00000368167.3	+	2	492	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V	CD1E_ENST00000368160.3_Missense_Mutation_p.F85V|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.F85V|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.F85V|CD1E_ENST00000368156.1_Missense_Mutation_p.F85V|CD1E_ENST00000434258.1_Missense_Mutation_p.F83V|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.F85V|CD1E_ENST00000368163.3_Missense_Mutation_p.F85V|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	85					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCATGGAAACTTCAGCAAGCA	0.498																																																	0			1											59.0	62.0	61.0					1																	158324361		2109	4272	6381	156590985	SO:0001583	missense	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.253T>G	1.37:g.158324361T>G	ENSP00000357149:p.Phe85Val	Somatic		Capture	Illumina HiSeq	Phase_I	156590985	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996658	0.54147	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.06608	3.3;3.3;3.28;3.3;3.3;3.3;3.51;3.42	3.8	3.8	0.43715	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.42294	D	0.000721	T	0.17238	0.0414	M	0.89095	3.005	0.80722	D	1	P;D;D;D;P;P;B;P	0.67145	0.863;0.979;0.979;0.996;0.863;0.952;0.1;0.714	P;P;P;D;P;P;B;P	0.71414	0.519;0.785;0.785;0.973;0.463;0.787;0.047;0.707	T	0.00641	-1.1631	10	0.62326	D	0.03	-26.5519	9.222	0.37382	0.0:0.0:0.0:1.0	.	83;85;85;85;85;85;85;85	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	V	83;85;85;85;85;85;85;85	ENSP00000401957:F83V;ENSP00000357149:F85V;ENSP00000357147:F85V;ENSP00000357145:F85V;ENSP00000357142:F85V;ENSP00000357143:F85V;ENSP00000357138:F85V;ENSP00000357137:F85V	ENSP00000357137:F85V	F	+	1	0	CD1E	156590985	0.382000	0.25148	0.843000	0.33291	0.489000	0.33432	0.667000	0.25112	1.957000	0.56846	0.460000	0.39030	TTC		CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
FMO3	2328	hgsc.bcm.edu	37	1	171086456	171086456	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:171086456C>A	ENST00000367755.4	+	9	1584	c.1473C>A	c.(1471-1473)gaC>gaA	p.D491E	FMO3_ENST00000542847.1_Missense_Mutation_p.D471E|FMO3_ENST00000392085.2_Missense_Mutation_p.D491E|FMO3_ENST00000538429.1_Missense_Mutation_p.D428E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	491					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CCCAGTGGGACCGGTCGTTGA	0.517																																																	0			1											119.0	109.0	112.0					1																	171086456		2203	4300	6503	169353080	SO:0001583	missense	2328			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1473C>A	1.37:g.171086456C>A	ENSP00000356729:p.Asp491Glu	Somatic		Capture	Illumina HiSeq	Phase_I	169353080	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	9.269	1.045087	0.19748	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.36	1.11	0.20524	.	0.053541	0.85682	D	0.000000	T	0.13756	0.0333	L	0.35341	1.055	0.37004	D	0.895384	B;B;B	0.20052	0.003;0.041;0.003	B;B;B	0.26202	0.005;0.067;0.032	T	0.10337	-1.0634	10	0.13108	T	0.6	-25.9605	0.5426	0.00648	0.2413:0.3316:0.1984:0.2287	.	428;471;491	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	E	491;491;471;428	ENSP00000356729:D491E;ENSP00000375935:D491E;ENSP00000444073:D471E;ENSP00000439500:D428E	ENSP00000356729:D491E	D	+	3	2	FMO3	169353080	0.003000	0.15002	0.991000	0.47740	0.685000	0.39939	-0.489000	0.06490	0.232000	0.21100	-0.152000	0.13540	GAC		FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
SUCO	51430	hgsc.bcm.edu	37	1	172579290	172579290	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:172579290T>C	ENST00000263688.3	+	24	3875	c.3656T>C	c.(3655-3657)cTa>cCa	p.L1219P	SUCO_ENST00000608151.1_Missense_Mutation_p.L1371P|SUCO_ENST00000367723.4_Missense_Mutation_p.L1370P|SUCO_ENST00000610051.1_Missense_Mutation_p.L848P	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1219					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATAAAAACTCTAATACAGACT	0.418																																																	0			1											57.0	59.0	58.0					1																	172579290		2202	4300	6502	170845913	SO:0001583	missense	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3656T>C	1.37:g.172579290T>C	ENSP00000263688:p.Leu1219Pro	Somatic		Capture	Illumina HiSeq	Phase_I	170845913	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987737	0.53934	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	5.26	0.73747	.	0.156119	0.43579	D	0.000542	T	0.55641	0.1933	M	0.65975	2.015	0.80722	D	1	B;P;P	0.48503	0.296;0.911;0.911	B;P;P	0.49192	0.097;0.602;0.602	T	0.64166	-0.6471	9	0.87932	D	0	-9.4595	14.2866	0.66249	0.0:0.0:0.0:1.0	.	848;1371;1219	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	P	1371;1219	.	ENSP00000263688:L1219P	L	+	2	0	C1orf9	170845913	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.789000	0.69029	2.115000	0.64714	0.528000	0.53228	CTA		SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
PAPPA2	60676	hgsc.bcm.edu	37	1	176709259	176709259	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:176709259T>A	ENST00000367662.3	+	14	5242	c.4078T>A	c.(4078-4080)Tcc>Acc	p.S1360T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1360					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTAAGGACATCCTCCCGCAT	0.517																																																	0			1											140.0	138.0	138.0					1																	176709259		2029	4176	6205	174975882	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4078T>A	1.37:g.176709259T>A	ENSP00000356634:p.Ser1360Thr	Somatic		Capture	Illumina HiSeq	Phase_I	174975882	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	4.350	0.064468	0.08388	.	.	ENSG00000116183	ENST00000367662	T	0.01665	4.7	5.91	-4.66	0.03329	.	0.615939	0.19076	N	0.123375	T	0.01835	0.0058	M	0.69823	2.125	0.09310	N	0.999999	B	0.25850	0.136	B	0.25405	0.06	T	0.42498	-0.9448	10	0.25751	T	0.34	-0.2505	2.9409	0.05830	0.1114:0.3731:0.2289:0.2866	.	1360	Q9BXP8	PAPP2_HUMAN	T	1360	ENSP00000356634:S1360T	ENSP00000356634:S1360T	S	+	1	0	PAPPA2	174975882	0.008000	0.16893	0.009000	0.14445	0.049000	0.14656	1.112000	0.31172	-1.211000	0.02624	-0.290000	0.09829	TCC		PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
PRG4	10216	hgsc.bcm.edu	37	1	186280289	186280289	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:186280289C>G	ENST00000445192.2	+	9	3668	c.3623C>G	c.(3622-3624)aCt>aGt	p.T1208S	RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367485.4_Missense_Mutation_p.T1115S|PRG4_ENST00000367483.4_Missense_Mutation_p.T1167S|PRG4_ENST00000367486.3_Missense_Mutation_p.T1165S|PRG4_ENST00000367484.3_Missense_Mutation_p.T737S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1208					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAAGGAAAAACTTTCTTCTTT	0.343																																																	0			1											88.0	84.0	85.0					1																	186280289		2203	4300	6503	184546912	SO:0001583	missense	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3623C>G	1.37:g.186280289C>G	ENSP00000399679:p.Thr1208Ser	Somatic		Capture	Illumina HiSeq	Phase_I	184546912	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000144	0.35320	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.03212	4.01;4.01;4.01;4.01;4.01	4.86	4.86	0.63082	Hemopexin/matrixin (2);	0.000000	0.45126	U	0.000390	T	0.20129	0.0484	M	0.85859	2.78	0.39481	D	0.967888	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.00942	-1.1506	10	0.87932	D	0	-10.6096	13.7014	0.62611	0.0:0.9224:0.0:0.0776	.	1074;1115;1208;1167	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	1165;737;1167;1115;1208	ENSP00000356456:T1165S;ENSP00000356454:T737S;ENSP00000356453:T1167S;ENSP00000356455:T1115S;ENSP00000399679:T1208S	ENSP00000356453:T1167S	T	+	2	0	PRG4	184546912	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.275000	0.58927	2.386000	0.81285	0.585000	0.79938	ACT		PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
BRINP3	339479	hgsc.bcm.edu	37	1	190129886	190129886	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:190129886A>G	ENST00000367462.3	-	7	1327	c.1096T>C	c.(1096-1098)Ttc>Ctc	p.F366L	BRINP3_ENST00000534846.1_Missense_Mutation_p.F264L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	366					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GCCTTTAGGAAAAGTTGTTTC	0.393																																																	0			1											145.0	149.0	147.0					1																	190129886		2203	4300	6503	188396509	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1096T>C	1.37:g.190129886A>G	ENSP00000356432:p.Phe366Leu	Somatic		Capture	Illumina HiSeq	Phase_I	188396509	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	6.053	0.378116	0.11466	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.15256	2.71;2.44	5.75	4.6	0.57074	.	0.309345	0.36234	N	0.002705	T	0.06690	0.0171	N	0.04508	-0.205	0.35441	D	0.794884	B;B	0.12630	0.006;0.003	B;B	0.08055	0.003;0.001	T	0.22312	-1.0220	10	0.02654	T	1	.	11.0791	0.48049	0.8443:0.1557:0.0:0.0	.	264;366	B7Z260;Q76B58	.;FAM5C_HUMAN	L	366;264	ENSP00000356432:F366L;ENSP00000438022:F264L	ENSP00000356432:F366L	F	-	1	0	FAM5C	188396509	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	3.930000	0.56522	0.972000	0.38314	0.467000	0.42956	TTC		BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
CAMSAP2	23271	hgsc.bcm.edu	37	1	200817795	200817795	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:200817795C>T	ENST00000236925.4	+	12	1980	c.1931C>T	c.(1930-1932)aCt>aTt	p.T644I	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T617I|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T633I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	644					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AGAGATTATACTGTAAGCTTG	0.403																																																	0			1											136.0	134.0	135.0					1																	200817795		2203	4300	6503	199084418	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1931C>T	1.37:g.200817795C>T	ENSP00000236925:p.Thr644Ile	Somatic		Capture	Illumina HiSeq	Phase_I	199084418	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37		.	.	.	.	.	.	.	.	.	.	C	18.32	3.597335	0.66332	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.44482	0.92;0.92;0.92	5.62	5.62	0.85841	.	0.155786	0.56097	D	0.000028	T	0.55768	0.1941	L	0.47716	1.5	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.964;0.979	P;P;P	0.59889	0.865;0.614;0.846	T	0.48514	-0.9029	10	0.36615	T	0.2	-26.7531	19.6614	0.95875	0.0:1.0:0.0:0.0	.	617;644;633	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	I	633;617;644	ENSP00000351684:T633I;ENSP00000416800:T617I;ENSP00000236925:T644I	ENSP00000236925:T644I	T	+	2	0	CAMSAP1L1	199084418	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	5.907000	0.69908	2.633000	0.89246	0.655000	0.94253	ACT		CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
ATP2B4	493	hgsc.bcm.edu	37	1	203708819	203708819	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:203708819A>G	ENST00000357681.5	+	21	4578	c.3455A>G	c.(3454-3456)gAg>gGg	p.E1152G	ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1188					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.E1152V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGAGGAAGAGGAGGAAAAT	0.498																																																	1	Substitution - Missense(1)	ovary(1)	1											123.0	110.0	114.0					1																	203708819		2203	4300	6503	201975442	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3455A>G	1.37:g.203708819A>G	ENSP00000350310:p.Glu1152Gly	Somatic		Capture	Illumina HiSeq	Phase_I	201975442	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012101	0.54468	.	.	ENSG00000058668	ENST00000357681	T	0.79554	-1.28	5.46	5.46	0.80206	.	1.166840	0.06393	N	0.717426	T	0.77558	0.4148	L	0.38175	1.15	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.57717	-0.7763	10	0.51188	T	0.08	-11.0127	15.1947	0.73078	1.0:0.0:0.0:0.0	.	1152	P23634-6	.	G	1152	ENSP00000350310:E1152G	ENSP00000350310:E1152G	E	+	2	0	ATP2B4	201975442	1.000000	0.71417	0.966000	0.40874	0.400000	0.30750	2.550000	0.45811	2.077000	0.62373	0.533000	0.62120	GAG		ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
USH2A	7399	hgsc.bcm.edu	37	1	216500979	216500979	+	Missense_Mutation	SNP	C	C	G	rs111033280		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:216500979C>G	ENST00000307340.3	-	5	1188	c.802G>C	c.(802-804)Gga>Cga	p.G268R	USH2A_ENST00000366942.3_Missense_Mutation_p.G268R|USH2A_ENST00000366943.2_Missense_Mutation_p.G268R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	268			G -> R (in USH2A; unknown pathological significance). {ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCATTCTTCCGACAAACTGC	0.363										HNSCC(13;0.011)																																							0			1	GRCh37	CM080595	USH2A	M	rs111033280						144.0	137.0	139.0					1																	216500979		2203	4300	6503	214567602	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.802G>C	1.37:g.216500979C>G	ENSP00000305941:p.Gly268Arg	Somatic		Capture	Illumina HiSeq	Phase_I	214567602	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441589	0.83993	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.90444	-2.67;-2.67;-2.67	5.52	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.40385	U	0.001117	D	0.95053	0.8398	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95516	0.8590	10	0.87932	D	0	.	15.4614	0.75359	0.1397:0.8603:0.0:0.0	.	268;268	O75445-2;O75445	.;USH2A_HUMAN	R	268	ENSP00000305941:G268R;ENSP00000355910:G268R;ENSP00000355909:G268R	ENSP00000305941:G268R	G	-	1	0	USH2A	214567602	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.352000	0.66028	1.278000	0.44430	0.563000	0.77884	GGA		USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
OBSCN	84033	hgsc.bcm.edu	37	1	228468143	228468143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:228468143C>T	ENST00000422127.1	+	29	7971	c.7927C>T	c.(7927-7929)Cga>Tga	p.R2643*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2643*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1490*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R3072*|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2643	Ig-like 25.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGGAGGTCCGAGGTGAGTC	0.652																																																	0			1											28.0	32.0	31.0					1																	228468143		2091	4209	6300	226534766	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7927C>T	1.37:g.228468143C>T	ENSP00000409493:p.Arg2643*	Somatic		Capture	Illumina HiSeq	Phase_I	226534766	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	49	16.007496	0.99851	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	.	.	.	5.3	1.57	0.23409	.	0.598909	0.16224	N	0.223927	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	13.1531	0.59500	0.6032:0.3968:0.0:0.0	.	.	.	.	X	2643;2643;1490;342;49	.	ENSP00000284548:R2643X	R	+	1	2	OBSCN	226534766	1.000000	0.71417	0.189000	0.23252	0.753000	0.42808	4.401000	0.59716	0.012000	0.14892	0.550000	0.68814	CGA		OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
RYR2	6262	hgsc.bcm.edu	37	1	237947292	237947292	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:237947292A>G	ENST00000366574.2	+	90	12597	c.12280A>G	c.(12280-12282)Atc>Gtc	p.I4094V	RYR2_ENST00000360064.6_Missense_Mutation_p.I4100V|RYR2_ENST00000542537.1_Missense_Mutation_p.I4078V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4094					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGAAGGACATCGGCTTCAA	0.502																																																	0			1											43.0	44.0	44.0					1																	237947292		2023	4201	6224	236013915	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12280A>G	1.37:g.237947292A>G	ENSP00000355533:p.Ile4094Val	Somatic		Capture	Illumina HiSeq	Phase_I	236013915	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290484	0.80914	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.97505	-0.11;-4.41;-0.11	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000005	D	0.98191	0.9402	M	0.75615	2.305	0.80722	D	1	P;P	0.51240	0.943;0.912	D;P	0.66716	0.946;0.809	D	0.99226	1.0880	10	0.87932	D	0	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	1068;4094	B4DGV4;Q92736	.;RYR2_HUMAN	V	4094;4100;4078;1068	ENSP00000355533:I4094V;ENSP00000353174:I4100V;ENSP00000443798:I4078V	ENSP00000353174:I4100V	I	+	1	0	RYR2	236013915	1.000000	0.71417	0.999000	0.59377	0.760000	0.43138	9.287000	0.95975	2.233000	0.73108	0.533000	0.62120	ATC		RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
WDR64	128025	hgsc.bcm.edu	37	1	241929585	241929585	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:241929585G>C	ENST00000366552.2	+	15	2190	c.1983G>C	c.(1981-1983)ttG>ttC	p.L661F	WDR64_ENST00000437684.2_Missense_Mutation_p.L661F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	661										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GATATAATTTGATAGCAGCTG	0.333																																																	0			1											140.0	139.0	139.0					1																	241929585		2203	4300	6503	239996208	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1983G>C	1.37:g.241929585G>C	ENSP00000355510:p.Leu661Phe	Somatic		Capture	Illumina HiSeq	Phase_I	239996208	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.00|11.00	1.510691|1.510691	0.27036|0.27036	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.60171|.	0.21;0.21;0.21|.	4.91|4.91	4.91|4.91	0.64330|0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.376505|.	0.19403|.	N|.	0.115136|.	T|.	0.72003|.	0.3407|.	M|M	0.68952|0.68952	2.095|2.095	0.38019|0.38019	D|D	0.93477|0.93477	D;P|.	0.69078|.	0.997;0.89|.	D;P|.	0.65684|.	0.937;0.481|.	T|.	0.75233|.	-0.3390|.	10|.	0.30854|.	T|.	0.27|.	-5.8978|-5.8978	15.0212|15.0212	0.71632|0.71632	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	661;381|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	F|S	661;661;432|140	ENSP00000355510:L661F;ENSP00000402446:L661F;ENSP00000406656:L432F|.	ENSP00000355510:L661F|.	L|X	+|+	3|2	2|2	WDR64|WDR64	239996208|239996208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.154000|0.154000	0.21943|0.21943	5.343000|5.343000	0.65976|0.65976	2.276000|2.276000	0.75962|0.75962	0.650000|0.650000	0.86243|0.86243	TTG|TGA		WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
OR2M2	391194	hgsc.bcm.edu	37	1	248343714	248343714	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:248343714C>T	ENST00000359682.2	+	1	427	c.427C>T	c.(427-429)Ctt>Ttt	p.L143F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATTTGTGGACTTATGGCTAC	0.428																																																	0			1											205.0	213.0	210.0					1																	248343714		2203	4300	6503	246410337	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.427C>T	1.37:g.248343714C>T	ENSP00000352710:p.Leu143Phe	Somatic		Capture	Illumina HiSeq	Phase_I	246410337	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	4.638	0.118564	0.08881	.	.	ENSG00000198601	ENST00000359682	T	0.00188	8.59	1.28	-0.154	0.13399	GPCR, rhodopsin-like superfamily (1);	0.000000	0.24050	U	0.042006	T	0.00178	0.0005	L	0.53249	1.67	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.39333	-0.9619	10	0.39692	T	0.17	.	1.3921	0.02253	0.2007:0.4341:0.1997:0.1655	.	143	Q96R28	OR2M2_HUMAN	F	143	ENSP00000352710:L143F	ENSP00000352710:L143F	L	+	1	0	OR2M2	246410337	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-4.021000	0.00311	0.669000	0.31146	0.298000	0.19748	CTT		OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
ZNF692	55657	hgsc.bcm.edu	37	1	249144901	249144901	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr1:249144901G>C	ENST00000306601.4	-	11	1399	c.1233C>G	c.(1231-1233)caC>caG	p.H411Q	ZNF692_ENST00000427146.1_Missense_Mutation_p.H366Q|ZNF692_ENST00000366469.5_Missense_Mutation_p.H410Q|ZNF692_ENST00000451251.1_Missense_Mutation_p.H416Q|ZNF692_ENST00000366471.3_Missense_Mutation_p.H366Q	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTTCTCCAGTGTGGATACGTC	0.577																																																	0			1											89.0	84.0	86.0					1																	249144901		2203	4300	6503	247111524	SO:0001583	missense	55657			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1233C>G	1.37:g.249144901G>C	ENSP00000305483:p.His411Gln	Somatic		Capture	Illumina HiSeq	Phase_I	247111524	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	CCDS31127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.23|19.23	3.788105|3.788105	0.70337|0.70337	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000476503|ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251	T|T;T;T;T;T	0.67698|0.66995	-0.28|-0.24;-0.24;-0.24;-0.24;-0.24	4.54|4.54	2.66|2.66	0.31614|0.31614	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000|0.000000	0.64402|0.64402	D|D	0.000020|0.000020	T|T	0.82222|0.82222	0.4990|0.4990	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.998;0.998;1.0;0.998	.|D;D;D;D;D	.|0.87578	.|0.998;0.98;0.98;0.998;0.966	T|T	0.82458|0.82458	-0.0447|-0.0447	8|10	0.87932|0.87932	D|D	0|0	-12.4799|-12.4799	6.2913|6.2913	0.21061|0.21061	0.2195:0.0:0.7805:0.0|0.2195:0.0:0.7805:0.0	.|.	.|416;366;239;411;144	.|B4DXZ0;Q9BU19-2;Q9BU19-3;Q9BU19;Q59EV5	.|.;.;.;ZN692_HUMAN;.	D|Q	165|411;366;239;366;410;416	ENSP00000431582:H165D|ENSP00000305483:H411Q;ENSP00000390044:H366Q;ENSP00000355427:H366Q;ENSP00000355425:H410Q;ENSP00000391200:H416Q	ENSP00000431582:H165D|ENSP00000305483:H411Q	H|H	-|-	1|3	0|2	ZNF692|ZNF692	247111524|247111524	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.948000|0.948000	0.59901|0.59901	4.154000|4.154000	0.58125|0.58125	1.277000|1.277000	0.44412|0.44412	0.462000|0.462000	0.41574|0.41574	CAC|CAC		ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865	
NUP98	4928	hgsc.bcm.edu	37	11	3756485	3756485	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:3756485T>A	ENST00000324932.7	-	13	1898	c.1478A>T	c.(1477-1479)tAc>tTc	p.Y493F	NUP98_ENST00000397007.4_Missense_Mutation_p.Y510F|NUP98_ENST00000397004.4_Missense_Mutation_p.Y493F|NUP98_ENST00000355260.3_Missense_Mutation_p.Y493F|NUP98_ENST00000359171.4_Missense_Mutation_p.Y493F	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	510					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.Y493F(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AAAAGGTGAGTATGTTAGACT	0.378			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	1	Substitution - Missense(1)	kidney(1)	11											56.0	59.0	58.0					11																	3756485		2201	4298	6499	3713061	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1478A>T	11.37:g.3756485T>A	ENSP00000316032:p.Tyr493Phe	Somatic		Capture	Illumina HiSeq	Phase_I	3713061	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.1|29.1	4.973851|4.973851	0.92919|0.92919	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000529379|ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.66939|0.66939	2.045|2.045	0.51767|0.51767	D|D	0.999935|0.999935	.|D;D;D;D	.|0.76494	.|0.998;0.99;0.999;0.999	.|D;P;D;D	.|0.85130	.|0.994;0.829;0.997;0.997	T|T	0.71130|0.71130	-0.4682|-0.4682	5|9	.|0.13108	.|T	.|0.6	-8.718|-8.718	14.7811|14.7811	0.69769|0.69769	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|510;493;493;493	.|P52948-3;P52948-4;P52948-2;P52948-5	.|.;.;.;.	S|F	95|493;493;493;493;510	.|.	.|ENSP00000316032:Y493F	T|Y	-|-	1|2	0|0	NUP98|NUP98	3713061|3713061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.431000|7.431000	0.80335|0.80335	2.085000|2.085000	0.62840|0.62840	0.482000|0.482000	0.46254|0.46254	ACT|TAC		NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
OR51B2	79345	hgsc.bcm.edu	37	11	5344652	5344652	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:5344652G>C	ENST00000328813.2	-	1	930	c.876C>G	c.(874-876)atC>atG	p.I292M	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTGGTTTTGATGCTGTAGA	0.373																																																	0			11											102.0	96.0	98.0					11																	5344652		2201	4297	6498	5301228	SO:0001583	missense	79345			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.876C>G	11.37:g.5344652G>C	ENSP00000327540:p.Ile292Met	Somatic		Capture	Illumina HiSeq	Phase_I	5301228	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	9.521	1.108200	0.20714	.	.	ENSG00000184881	ENST00000328813	T	0.38722	1.12	4.38	0.026	0.14148	.	0.000000	0.39146	U	0.001456	T	0.33614	0.0869	M	0.71920	2.185	0.26246	N	0.978795	B	0.17667	0.023	B	0.17098	0.017	T	0.36456	-0.9747	10	0.72032	D	0.01	.	1.1063	0.01694	0.2771:0.2688:0.317:0.1372	.	292	Q9Y5P1	O51B2_HUMAN	M	292	ENSP00000327540:I292M	ENSP00000327540:I292M	I	-	3	3	OR51B2	5301228	0.000000	0.05858	0.998000	0.56505	0.928000	0.56348	-3.172000	0.00572	0.098000	0.17522	-0.175000	0.13238	ATC		OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180	
OR52W1	120787	hgsc.bcm.edu	37	11	6220833	6220833	+	Missense_Mutation	SNP	G	G	A	rs146972287		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:6220833G>A	ENST00000311352.2	+	1	458	c.380G>A	c.(379-381)cGt>cAt	p.R127H	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R127H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGTGATCGTGCTGCGGCA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		24071	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	endometrium(1)	11						G	HIS/ARG	0,4402		0,0,2201	142.0	98.0	113.0		380	5.8	0.9	11	dbSNP_134	113	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR52W1	NM_001005178.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	127/321	6220833	1,12993	2201	4296	6497	6177409	SO:0001583	missense	120787			AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.380G>A	11.37:g.6220833G>A	ENSP00000309673:p.Arg127His	Somatic		Capture	Illumina HiSeq	Phase_I	6177409	Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	CCDS31407.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.97	3.736425	0.69189	0.0	1.16E-4	ENSG00000175485	ENST00000311352	T	0.77489	-1.1	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.197016	0.25156	N	0.032710	D	0.90191	0.6934	M	0.92555	3.32	0.47308	D	0.999381	D	0.76494	0.999	P	0.60068	0.868	D	0.91810	0.5459	10	0.72032	D	0.01	.	19.1459	0.93467	0.0:0.0:1.0:0.0	.	127	Q6IF63	O52W1_HUMAN	H	127	ENSP00000309673:R127H	ENSP00000309673:R127H	R	+	2	0	OR52W1	6177409	1.000000	0.71417	0.936000	0.37596	0.471000	0.32888	7.373000	0.79623	2.767000	0.95098	0.655000	0.94253	CGT		OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178	
ZNF215	7762	hgsc.bcm.edu	37	11	6977230	6977230	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:6977230T>G	ENST00000278319.5	+	7	1610	c.1022T>G	c.(1021-1023)tTc>tGc	p.F341C	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.F341C	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	341					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAAACTTACTTCAAATTTAAT	0.318																																																	0			11											48.0	53.0	51.0					11																	6977230		2201	4294	6495	6933806	SO:0001583	missense	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1022T>G	11.37:g.6977230T>G	ENSP00000278319:p.Phe341Cys	Somatic		Capture	Illumina HiSeq	Phase_I	6933806	Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.378863	0.42207	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.06687	3.27;3.27	3.99	2.82	0.32997	.	0.145178	0.32459	N	0.006062	T	0.08133	0.0203	N	0.08118	0	0.21719	N	0.999576	D	0.69078	0.997	P	0.55667	0.781	T	0.13764	-1.0497	10	0.87932	D	0	-0.2188	9.0113	0.36142	0.0:0.0:0.1866:0.8134	.	341	Q9UL58	ZN215_HUMAN	C	341	ENSP00000278319:F341C;ENSP00000393202:F341C	ENSP00000278319:F341C	F	+	2	0	ZNF215	6933806	0.005000	0.15991	0.002000	0.10522	0.022000	0.10575	1.548000	0.36201	0.832000	0.34804	0.533000	0.62120	TTC		ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1		
DENND5A	23258	hgsc.bcm.edu	37	11	9168658	9168658	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:9168658C>T	ENST00000328194.3	-	16	3096	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	DENND5A_ENST00000530044.1_Missense_Mutation_p.E926K|DENND5A_ENST00000527700.1_Missense_Mutation_p.E269K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	926	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCTCCTTCTCGTCATCACAG	0.463																																																	0			11											173.0	145.0	155.0					11																	9168658		2201	4296	6497	9125234	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2776G>A	11.37:g.9168658C>T	ENSP00000328524:p.Glu926Lys	Somatic		Capture	Illumina HiSeq	Phase_I	9125234	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.771634|5.771634	0.96922|0.96922	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	5.64|5.64	5.64|5.64	0.86602|0.86602	RUN (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73179|0.73179	0.3554|0.3554	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	D;B|.	0.54047|.	0.964;0.348|.	P;B|.	0.51385|.	0.668;0.272|.	T|T	0.69694|0.69694	-0.5076|-0.5076	10|5	0.51188|.	T|.	0.08|.	.|.	19.7069|19.7069	0.96076|0.96076	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	926;926|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	K|Q	926;926;269|96	ENSP00000328524:E926K;ENSP00000435866:E926K;ENSP00000432549:E269K|.	ENSP00000328524:E926K|.	E|R	-|-	1|2	0|0	DENND5A|DENND5A	9125234|9125234	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	7.818000|7.818000	0.86416|0.86416	2.654000|2.654000	0.90174|0.90174	0.563000|0.563000	0.77884|0.77884	GAG|CGA		DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213	
PDE3B	5140	hgsc.bcm.edu	37	11	14853310	14853310	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:14853310G>C	ENST00000282096.4	+	9	2434	c.2081G>C	c.(2080-2082)aGg>aCg	p.R694T	PDE3B_ENST00000455098.2_Missense_Mutation_p.R643T	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	694					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AAATCAGGAAGGATTCTCAGT	0.274																																																	0			11											57.0	63.0	61.0					11																	14853310		2197	4291	6488	14809886	SO:0001583	missense	5140			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2081G>C	11.37:g.14853310G>C	ENSP00000282096:p.Arg694Thr	Somatic		Capture	Illumina HiSeq	Phase_I	14809886	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686806	0.68157	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.77358	-1.09;-1.09	5.95	5.04	0.67666	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	M	0.77103	2.36	0.53688	D	0.999974	D;D	0.67145	0.995;0.996	P;P	0.57502	0.82;0.822	D	0.87682	0.2548	10	0.72032	D	0.01	.	15.1414	0.72612	0.0675:0.0:0.9325:0.0	.	643;694	B7ZM37;Q13370	.;PDE3B_HUMAN	T	694;643	ENSP00000282096:R694T;ENSP00000388644:R643T	ENSP00000282096:R694T	R	+	2	0	PDE3B	14809886	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	7.113000	0.77095	1.529000	0.49120	-0.253000	0.11424	AGG		PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
QSER1	79832	hgsc.bcm.edu	37	11	32956633	32956633	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:32956633G>C	ENST00000399302.2	+	4	3777	c.3442G>C	c.(3442-3444)Gga>Cga	p.G1148R	QSER1_ENST00000527788.1_Missense_Mutation_p.G909R	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1148										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGTCAAAACAGGATTTATTGC	0.443																																																	0			11											84.0	83.0	83.0					11																	32956633		1847	4090	5937	32913209	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3442G>C	11.37:g.32956633G>C	ENSP00000382241:p.Gly1148Arg	Somatic		Capture	Illumina HiSeq	Phase_I	32913209	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.99|19.99	3.927918|3.927918	0.73327|0.73327	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.75050|.	-0.52;-0.9|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.77618|0.77618	0.4157|0.4157	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	T|T	0.76623|0.76623	-0.2891|-0.2891	10|5	0.87932|.	D|.	0|.	.|.	19.573|19.573	0.95428|0.95428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	909;909;1148|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	R|H	1148;909;909|168	ENSP00000382241:G1148R;ENSP00000432766:G909R|.	ENSP00000078652:G909R|.	G|Q	+|+	1|3	0|2	QSER1|QSER1	32913209|32913209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.476000|9.476000	0.97823|0.97823	2.628000|2.628000	0.89032|0.89032	0.563000|0.563000	0.77884|0.77884	GGA|CAG		QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
ALX4	60529	hgsc.bcm.edu	37	11	44286517	44286517	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:44286517G>A	ENST00000329255.3	-	4	1226	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	375					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGAGGCCTGGGCTGAGGCTG	0.657																																																	0			11											56.0	52.0	53.0					11																	44286517		2203	4299	6502	44243093	SO:0001583	missense	60529			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1123C>T	11.37:g.44286517G>A	ENSP00000332744:p.Pro375Ser	Somatic		Capture	Illumina HiSeq	Phase_I	44243093	Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770356	0.69992	.	.	ENSG00000052850	ENST00000329255	D	0.92495	-3.05	5.19	5.19	0.71726	.	0.296491	0.33772	N	0.004572	D	0.90584	0.7048	L	0.57536	1.79	0.39363	D	0.965952	B	0.22683	0.073	B	0.20184	0.028	D	0.87469	0.2413	10	0.30854	T	0.27	.	19.084	0.93194	0.0:0.0:1.0:0.0	.	375	Q9H161	ALX4_HUMAN	S	375	ENSP00000332744:P375S	ENSP00000332744:P375S	P	-	1	0	ALX4	44243093	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.802000	0.47916	2.575000	0.86900	0.561000	0.74099	CCA		ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1		
OR4A15	81328	hgsc.bcm.edu	37	11	55135901	55135901	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:55135901T>G	ENST00000314706.3	+	1	542	c.542T>G	c.(541-543)tTt>tGt	p.F181C		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTGGAGGCTTTCTTCACTCA	0.418																																																	0			11											200.0	180.0	187.0					11																	55135901		2201	4296	6497	54892477	SO:0001583	missense	81328			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.542T>G	11.37:g.55135901T>G	ENSP00000325065:p.Phe181Cys	Somatic		Capture	Illumina HiSeq	Phase_I	54892477	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	10.50	1.367427	0.24771	.	.	ENSG00000181958	ENST00000314706	T	0.00188	8.59	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.258526	0.27460	N	0.019267	T	0.00300	0.0009	M	0.63843	1.955	0.09310	N	1	B	0.28378	0.209	B	0.43225	0.412	T	0.12734	-1.0536	10	0.46703	T	0.11	.	10.0108	0.41986	0.0:0.0:0.0:1.0	.	181	Q8NGL6	O4A15_HUMAN	C	181	ENSP00000325065:F181C	ENSP00000325065:F181C	F	+	2	0	OR4A15	54892477	0.000000	0.05858	0.034000	0.17996	0.512000	0.34134	0.766000	0.26560	1.456000	0.47831	0.403000	0.27427	TTT		OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
OR5D13	390142	hgsc.bcm.edu	37	11	55541198	55541198	+	Silent	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:55541198T>A	ENST00000361760.1	+	1	285	c.285T>A	c.(283-285)tcT>tcA	p.S95S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	95						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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GAACCATCTCTTTCTCTGGTT	0.403																																																	0			11											185.0	179.0	181.0					11																	55541198		2200	4296	6496	55297774	SO:0001819	synonymous_variant	390142			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.285T>A	11.37:g.55541198T>A		Somatic		Capture	Illumina HiSeq	Phase_I	55297774	Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	CCDS31507.1																																																																																				OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR8K5	219453	hgsc.bcm.edu	37	11	55927008	55927008	+	Silent	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:55927008G>T	ENST00000313447.1	-	1	785	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P262P(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGTGGAATTGGGCTGCATGT	0.418																																																	1	Substitution - coding silent(1)	ovary(1)	11											109.0	94.0	99.0					11																	55927008		2201	4296	6497	55683584	SO:0001819	synonymous_variant	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.786C>A	11.37:g.55927008G>T		Somatic		Capture	Illumina HiSeq	Phase_I	55683584	Q6IFB5	Silent	SNP	ENST00000313447.1	37	CCDS31521.1																																																																																				OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058	
OR5AP2	338675	hgsc.bcm.edu	37	11	56409290	56409290	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:56409290G>A	ENST00000302981.1	-	1	625	c.626C>T	c.(625-627)tCa>tTa	p.S209L	OR5AP2_ENST00000544374.1_Missense_Mutation_p.S210L	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AATAAAACTTGAGAATGCCAT	0.443																																																	0			11											212.0	206.0	208.0					11																	56409290		2201	4296	6497	56165866	SO:0001583	missense	338675			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.626C>T	11.37:g.56409290G>A	ENSP00000303111:p.Ser209Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56165866	B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471436	0.43942	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.36878	1.23;1.23	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000179	T	0.38639	0.1048	M	0.69185	2.1	0.09310	N	1	P	0.40000	0.698	B	0.40702	0.338	T	0.45011	-0.9290	10	0.62326	D	0.03	.	10.3966	0.44205	0.0:0.1431:0.7093:0.1476	.	209	Q8NGF4	O5AP2_HUMAN	L	210;209	ENSP00000442701:S210L;ENSP00000303111:S209L	ENSP00000303111:S209L	S	-	2	0	OR5AP2	56165866	0.051000	0.20477	1.000000	0.80357	0.910000	0.53928	2.063000	0.41423	2.588000	0.87417	0.637000	0.83480	TCA		OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925	
RCOR2	283248	hgsc.bcm.edu	37	11	63681555	63681555	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:63681555T>C	ENST00000301459.4	-	8	1149	c.762A>G	c.(760-762)cgA>cgG	p.R254R	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	254					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GACGCCGGGTTCGCAAGGGAT	0.642																																																	0			11											105.0	97.0	100.0					11																	63681555		2201	4297	6498	63438131	SO:0001819	synonymous_variant	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.762A>G	11.37:g.63681555T>C		Somatic		Capture	Illumina HiSeq	Phase_I	63438131	Q96FP3	Silent	SNP	ENST00000301459.4	37	CCDS8052.1																																																																																				RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587	
ATG2A	23130	hgsc.bcm.edu	37	11	64681704	64681704	+	Splice_Site	SNP	C	C	A	rs373062101		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:64681704C>A	ENST00000377264.3	-	3	448	c.336G>T	c.(334-336)gcG>gcT	p.A112A	ATG2A_ENST00000421419.2_Splice_Site_p.A112A	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	112					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGCCCCTGGCGCTGTAGGGA	0.682																																																	0			11											15.0	16.0	16.0					11																	64681704		2158	4229	6387	64438280	SO:0001630	splice_region_variant	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.335-1G>T	11.37:g.64681704C>A		Somatic		Capture	Illumina HiSeq	Phase_I	64438280	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	c	3.771	-0.047637	0.07407	.	.	ENSG00000110046	ENST00000377262	.	.	.	4.07	-3.32	0.04973	.	0.209300	0.24172	N	0.040882	T	0.40222	0.1108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25502	-1.0130	6	0.39692	T	0.17	.	0.268	0.00227	0.246:0.2333:0.2636:0.2571	.	.	.	.	S	110	.	ENSP00000366473:A110S	A	-	1	0	ATG2A	64438280	0.000000	0.05858	0.883000	0.34634	0.398000	0.30690	-1.598000	0.02087	-0.776000	0.04578	-0.482000	0.04802	GCC		ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	Silent
SPTBN2	6712	hgsc.bcm.edu	37	11	66478110	66478110	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:66478110C>T	ENST00000533211.1	-	10	1347	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	SPTBN2_ENST00000529997.1_Missense_Mutation_p.G339E|SPTBN2_ENST00000309996.2_Missense_Mutation_p.G339E|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	339					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTTCTGGACCCCGCTAAGGGA	0.622																																																	0			11											73.0	58.0	63.0					11																	66478110		2200	4295	6495	66234686	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1016G>A	11.37:g.66478110C>T	ENSP00000432568:p.Gly339Glu	Somatic		Capture	Illumina HiSeq	Phase_I	66234686	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712653	0.68730	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.64260	-0.09;-0.09;-0.09	5.0	5.0	0.66597	.	0.122296	0.56097	D	0.000038	T	0.80984	0.4729	M	0.82716	2.605	0.52099	D	0.999941	D	0.89917	1.0	D	0.85130	0.997	D	0.83567	0.0110	10	0.66056	D	0.02	.	17.2122	0.86934	0.0:1.0:0.0:0.0	.	339	O15020	SPTN2_HUMAN	E	339	ENSP00000432568:G339E;ENSP00000311489:G339E;ENSP00000433593:G339E	ENSP00000311489:G339E	G	-	2	0	SPTBN2	66234686	0.967000	0.33354	0.896000	0.35187	0.738000	0.42128	2.378000	0.44309	2.595000	0.87683	0.563000	0.77884	GGG		SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
PPP6R3	55291	hgsc.bcm.edu	37	11	68331813	68331813	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:68331813T>C	ENST00000393800.2	+	9	1142	c.888T>C	c.(886-888)caT>caC	p.H296H	PPP6R3_ENST00000524845.1_Silent_p.H296H|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Silent_p.H296H|PPP6R3_ENST00000393799.2_Silent_p.H296H|PPP6R3_ENST00000524904.1_Silent_p.H296H|PPP6R3_ENST00000265637.4_Silent_p.H296H|PPP6R3_ENST00000393801.3_Silent_p.H296H|PPP6R3_ENST00000527403.2_Silent_p.H296H|PPP6R3_ENST00000529710.1_Silent_p.H296H	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	296					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCATGAGCCATTCAGCTTGTT	0.413																																																	0			11											107.0	108.0	107.0					11																	68331813		2200	4294	6494	68088389	SO:0001819	synonymous_variant	0			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.888T>C	11.37:g.68331813T>C		Somatic		Capture	Illumina HiSeq	Phase_I	68088389	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																				PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	
P2RY6	5031	hgsc.bcm.edu	37	11	73007692	73007692	+	Silent	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:73007692G>A	ENST00000393590.2	+	2	428	c.129G>A	c.(127-129)ctG>ctA	p.L43L	P2RY6_ENST00000393592.2_Silent_p.L43L|P2RY6_ENST00000540342.1_Silent_p.L43L|P2RY6_ENST00000393591.1_Silent_p.L43L|P2RY6_ENST00000542092.1_Silent_p.L43L|P2RY6_ENST00000538328.1_Silent_p.L43L|P2RY6_ENST00000540124.1_Silent_p.L43L|P2RY6_ENST00000349767.2_Silent_p.L43L	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	43					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCTGCCGCTGAACATCTGTG	0.617																																																	0			11											128.0	136.0	133.0					11																	73007692		2200	4293	6493	72685340	SO:0001819	synonymous_variant	5031				CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.129G>A	11.37:g.73007692G>A		Somatic		Capture	Illumina HiSeq	Phase_I	72685340	Q15754	Silent	SNP	ENST00000393590.2	37	CCDS8220.1																																																																																				P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1		
C2CD3	26005	hgsc.bcm.edu	37	11	73834107	73834107	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:73834107C>T	ENST00000334126.7	-	8	1517	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	C2CD3_ENST00000313663.7_Missense_Mutation_p.V431M			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	431					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATGCAATACACATCACTCCCA	0.448																																																	0			11											80.0	79.0	79.0					11																	73834107		2200	4293	6493	73511755	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1291G>A	11.37:g.73834107C>T	ENSP00000334379:p.Val431Met	Somatic		Capture	Illumina HiSeq	Phase_I	73511755	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	19.10	3.761572	0.69763	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.14640	2.49;2.51	5.52	4.55	0.56014	.	0.377637	0.26352	N	0.024861	T	0.27205	0.0667	L	0.56769	1.78	0.23449	N	0.997655	D;P	0.62365	0.991;0.919	P;P	0.60286	0.872;0.682	T	0.02991	-1.1085	10	0.62326	D	0.03	-0.6089	10.6088	0.45410	0.1477:0.7095:0.1427:0.0	.	431;431	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	M	431	ENSP00000334379:V431M;ENSP00000323339:V431M	ENSP00000323339:V431M	V	-	1	0	C2CD3	73511755	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.779000	0.38624	2.586000	0.87340	0.561000	0.74099	GTG		C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
EED	8726	hgsc.bcm.edu	37	11	85967512	85967512	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:85967512C>T	ENST00000263360.6	+	5	1196	c.510C>T	c.(508-510)ggC>ggT	p.G170G	EED_ENST00000327320.4_Silent_p.G170G|EED_ENST00000528180.1_Silent_p.G170G|EED_ENST00000351625.6_Silent_p.G170G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	170	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GATCTAGAGGCATAATTAGGA	0.378																																																	0			11											99.0	99.0	99.0					11																	85967512		2202	4299	6501	85645160	SO:0001819	synonymous_variant	8726			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.510C>T	11.37:g.85967512C>T		Somatic		Capture	Illumina HiSeq	Phase_I	85645160	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Silent	SNP	ENST00000263360.6	37	CCDS8273.1																																																																																				EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797	
FAT3	120114	hgsc.bcm.edu	37	11	92086824	92086824	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:92086824T>A	ENST00000298047.6	+	1	1563	c.1546T>A	c.(1546-1548)Ttg>Atg	p.L516M	FAT3_ENST00000409404.2_Missense_Mutation_p.L516M|FAT3_ENST00000541502.1_Missense_Mutation_p.L516M|FAT3_ENST00000525166.1_Missense_Mutation_p.L366M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCCTGAATTTGTTACCATT	0.388										TCGA Ovarian(4;0.039)																																							0			11											108.0	110.0	109.0					11																	92086824		1882	4112	5994	91726472	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1546T>A	11.37:g.92086824T>A	ENSP00000298047:p.Leu516Met	Somatic		Capture	Illumina HiSeq	Phase_I	91726472	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	3.890	-0.024218	0.07634	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.84	-11.7	0.00046	.	.	.	.	.	T	0.24547	0.0595	L	0.28556	0.865	0.09310	N	1	P	0.35272	0.493	B	0.33690	0.168	T	0.23976	-1.0173	9	0.48119	T	0.1	.	3.7161	0.08438	0.124:0.3056:0.3251:0.2453	.	516	Q8TDW7-3	.	M	516;516;516;366	ENSP00000298047:L516M;ENSP00000387040:L516M;ENSP00000443786:L516M;ENSP00000432586:L366M	ENSP00000298047:L516M	L	+	1	2	FAT3	91726472	0.000000	0.05858	0.000000	0.03702	0.787000	0.44495	-2.003000	0.01463	-3.697000	0.00119	-1.963000	0.00474	TTG		FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
CWF19L2	143884	hgsc.bcm.edu	37	11	107219711	107219711	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:107219711G>T	ENST00000282251.5	-	14	2181	c.2154C>A	c.(2152-2154)caC>caA	p.H718Q	CWF19L2_ENST00000433523.1_Missense_Mutation_p.H718Q	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	718							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTGCTCTATGGTGCTGCAAAG	0.388																																																	0			11											75.0	74.0	75.0					11																	107219711		2201	4298	6499	106724921	SO:0001583	missense	143884			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2154C>A	11.37:g.107219711G>T	ENSP00000282251:p.His718Gln	Somatic		Capture	Illumina HiSeq	Phase_I	106724921	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846511	0.71603	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;D	0.89123	0.07;-2.47	5.86	2.78	0.32641	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	H	0.95539	3.685	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94393	0.7616	10	0.87932	D	0	-14.6588	8.9957	0.36050	0.2693:0.0:0.7307:0.0	.	718	Q2TBE0	C19L2_HUMAN	Q	718	ENSP00000282251:H718Q;ENSP00000387533:H718Q	ENSP00000282251:H718Q	H	-	3	2	CWF19L2	106724921	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	1.409000	0.34680	0.690000	0.31570	0.655000	0.94253	CAC		CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
NXPE4	54827	hgsc.bcm.edu	37	11	114453431	114453431	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:114453431A>C	ENST00000375478.3	-	3	589	c.409T>G	c.(409-411)Ttc>Gtc	p.F137V	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	137						extracellular vesicular exosome (GO:0070062)											GCCCTCAGGAAATCCCCGCCA	0.572																																																	0			11											76.0	81.0	80.0					11																	114453431		2198	4296	6494	113958641	SO:0001583	missense	54827			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.409T>G	11.37:g.114453431A>C	ENSP00000364627:p.Phe137Val	Somatic		Capture	Illumina HiSeq	Phase_I	113958641	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.330667	0.60853	.	.	ENSG00000137634	ENST00000375478	T	0.20598	2.06	5.01	5.01	0.66863	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.085834	0.50627	D	0.000109	T	0.51092	0.1654	M	0.90082	3.085	0.34434	D	0.698832	D	0.89917	1.0	D	0.81914	0.995	T	0.70328	-0.4902	10	0.72032	D	0.01	.	10.6877	0.45852	0.8401:0.1599:0.0:0.0	.	137	Q6UWF7	FA55D_HUMAN	V	137	ENSP00000364627:F137V	ENSP00000364627:F137V	F	-	1	0	FAM55D	113958641	1.000000	0.71417	0.985000	0.45067	0.578000	0.36192	5.489000	0.66875	2.007000	0.58848	0.482000	0.46254	TTC		NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
CEP164	22897	hgsc.bcm.edu	37	11	117278743	117278743	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:117278743G>A	ENST00000278935.3	+	28	3751	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1202					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTCTCTTTGGGAAGAGGTGCA	0.552																																																	0			11											83.0	68.0	73.0					11																	117278743		2201	4293	6494	116783953	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3604G>A	11.37:g.117278743G>A	ENSP00000278935:p.Glu1202Lys	Somatic		Capture	Illumina HiSeq	Phase_I	116783953	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355347	0.41700	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.34472	1.36	5.17	4.24	0.50183	.	0.000000	0.49305	D	0.000151	T	0.55353	0.1915	M	0.74258	2.255	0.38895	D	0.957204	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.60415	0.874;0.874;0.874	T	0.63278	-0.6673	10	0.62326	D	0.03	-7.843	13.321	0.60432	0.0:0.0:0.8414:0.1586	.	976;1202;1205	Q9NTH6;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	K	1202;1113	ENSP00000278935:E1202K	ENSP00000278935:E1202K	E	+	1	0	CEP164	116783953	1.000000	0.71417	0.738000	0.30950	0.495000	0.33615	6.548000	0.73896	1.270000	0.44297	0.591000	0.81541	GAA		CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
HLA-G	3135	hgsc.bcm.edu	37	6	29797678	29797678	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:29797678C>T	ENST00000360323.6	+	5	1005	c.981C>T	c.(979-981)gtC>gtT	p.V327V	HLA-G_ENST00000376828.2_Silent_p.V332V|HLA-G_ENST00000376818.3_Silent_p.V235V|HLA-G_ENST00000376815.3_Silent_p.V143V|HLA-G_ENST00000428701.1_Silent_p.V327V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	327					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V327V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAGCTGCGGTCGCTGCTGTGC	0.567																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	6											91.0	79.0	83.0					6																	29797678		2203	4300	6503	29905657	SO:0001819	synonymous_variant	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.981C>T	6.37:g.29797678C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29905657		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																				HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	
MICB	4277	hgsc.bcm.edu	37	6	31473513	31473513	+	Missense_Mutation	SNP	C	C	T	rs2240858	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:31473513C>T	ENST00000252229.6	+	2	269	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	MICB_ENST00000399150.3_Missense_Mutation_p.R64C|MICB_ENST00000538442.1_Missense_Mutation_p.R32C	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CAGGCAGAAACGCAGGGCAAA	0.572													c|||	4	0.000798722	0.0	0.0014	5008	,	,		19845	0.0		0.0	False		,,,				2504	0.0031																0			6											72.0	76.0	75.0					6																	31473513		1286	2551	3837	31581492	SO:0001583	missense	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.190C>T	6.37:g.31473513C>T	ENSP00000252229:p.Arg64Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31581492		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	3.472	-0.107702	0.06924	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.01887	4.58;4.58;4.58	2.35	-4.71	0.03279	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.688810	0.03892	U	0.278939	T	0.00440	0.0014	N	0.12422	0.21	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.002;0.004;0.005	T	0.47548	-0.9109	10	0.42905	T	0.14	.	2.3151	0.04197	0.1242:0.3189:0.378:0.1788	rs2240858	32;64;64	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	C	32;64;64	ENSP00000442345:R32C;ENSP00000382103:R64C;ENSP00000252229:R64C	ENSP00000252229:R64C	R	+	1	0	MICB	31581492	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.334000	0.02665	-1.193000	0.02688	-3.051000	0.00069	CGC		MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	
BTNL2	56244	hgsc.bcm.edu	37	6	32364076	32364076	+	Missense_Mutation	SNP	G	G	A	rs138515121	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:32364076G>A	ENST00000374993.1	-	5	817	c.818C>T	c.(817-819)gCg>gTg	p.A273V	HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000454136.3_Missense_Mutation_p.A273V|BTNL2_ENST00000540315.1_Missense_Mutation_p.A63V|BTNL2_ENST00000374995.3_Missense_Mutation_p.A179V|BTNL2_ENST00000429232.2_Missense_Mutation_p.A180V|BTNL2_ENST00000414363.1_Missense_Mutation_p.A63V|BTNL2_ENST00000544175.1_5'UTR	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	273	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CTGTGCATTCGCCTTGGGGGA	0.522													g|||	27	0.00539137	0.0174	0.0058	5008	,	,		21499	0.0		0.0	False		,,,				2504	0.0																0			6							VAL/ALA	54,2966		1,52,1457	96.0	82.0	87.0		818	0.1	0.0	6	dbSNP_134	87	0,5418		0,0,2709	yes	missense	BTNL2	NM_019602.1	64	1,52,4166	AA,AG,GG		0.0,1.7881,0.64	benign	273/456	32364076	54,8384	1510	2709	4219	32472054	SO:0001583	missense	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.818C>T	6.37:g.32364076G>A	ENSP00000364132:p.Ala273Val	Somatic		Capture	Illumina HiSeq	Phase_I	32472054	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		13	0.005952380952380952	11	0.022357723577235773	2	0.0055248618784530384	0	0.0	0	0.0	g	5.390	0.257249	0.10239	0.017881	0.0	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000429232	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.16	0.135	0.14775	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.312890	0.05180	N	0.501248	T	0.02230	0.0069	N	0.03608	-0.345	0.09310	N	1	B;B	0.24963	0.115;0.048	B;B	0.20767	0.016;0.031	T	0.40478	-0.9561	10	0.21540	T	0.41	.	4.5611	0.12161	0.3979:0.0:0.4584:0.1437	.	63;273	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	V	273;179;63;273;63;180	ENSP00000364134:A179V;ENSP00000390512:A63V;ENSP00000364132:A273V;ENSP00000444714:A63V;ENSP00000411166:A180V	ENSP00000364132:A273V	A	-	2	0	BTNL2	32472054	0.000000	0.05858	0.000000	0.03702	0.736000	0.42039	0.472000	0.22116	0.080000	0.16959	-0.178000	0.13098	GCG		BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	
DAXX	1616	hgsc.bcm.edu	37	6	33287859	33287859	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:33287859T>C	ENST00000374542.5	-	5	1598	c.1394A>G	c.(1393-1395)gAg>gGg	p.E465G	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.E465G|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.E390G|DAXX_ENST00000477162.1_5'UTR	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	465	Asp/Glu-rich (acidic).|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						ttccagatcctcctcctcttc	0.527			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0			6											177.0	125.0	143.0					6																	33287859		2203	4300	6503	33395837	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.1394A>G	6.37:g.33287859T>C	ENSP00000363668:p.Glu465Gly	Somatic		Capture	Illumina HiSeq	Phase_I	33395837	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480554	0.26598	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	T;T	0.03772	3.81;3.81	4.1	4.1	0.47936	.	0.352110	0.28504	N	0.015119	T	0.03263	0.0095	M	0.63428	1.95	0.33765	D	0.622304	P;P	0.41784	0.762;0.762	B;B	0.42163	0.378;0.378	T	0.39121	-0.9629	10	0.36615	T	0.2	-2.5961	9.6964	0.40161	0.0:0.0:0.0:1.0	.	477;465	B4E1C1;Q9UER7	.;DAXX_HUMAN	G	465;465;390	ENSP00000266000:E465G;ENSP00000363668:E465G	ENSP00000266000:E465G	E	-	2	0	DAXX	33395837	1.000000	0.71417	0.983000	0.44433	0.537000	0.34900	2.167000	0.42415	1.860000	0.53959	0.443000	0.29094	GAG		DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1		
KCNK16	83795	hgsc.bcm.edu	37	6	39282826	39282826	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:39282826T>A	ENST00000373229.5	-	6	895	c.882A>T	c.(880-882)caA>caT	p.Q294H	KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000373227.4_Missense_Mutation_p.Q247H|KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000507712.1_Missense_Mutation_p.Q182H	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	294					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GGGGTGTGACTTGGACTCCTC	0.597																																																	0			6											157.0	143.0	148.0					6																	39282826		2203	4300	6503	39390804	SO:0001583	missense	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.882A>T	6.37:g.39282826T>A	ENSP00000362326:p.Gln294His	Somatic		Capture	Illumina HiSeq	Phase_I	39390804	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753884	0.31046	.	.	ENSG00000095981	ENST00000373229;ENST00000507712;ENST00000373227	T;T;T	0.16597	2.52;2.33;2.83	2.35	-1.81	0.07882	.	7739.210000	0.00166	N	0.000000	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B;B	0.30664	0.289;0.191	B;B	0.23150	0.044;0.02	T	0.35943	-0.9768	10	0.87932	D	0	.	6.4462	0.21877	0.0:0.3901:0.0:0.6099	.	247;294	Q96T55-5;Q96T55	.;KCNKG_HUMAN	H	294;182;247	ENSP00000362326:Q294H;ENSP00000423842:Q182H;ENSP00000362324:Q247H	ENSP00000362324:Q247H	Q	-	3	2	KCNK16	39390804	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	0.220000	0.17660	-0.543000	0.06240	-0.456000	0.05471	CAA		KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115	
TFEB	7942	hgsc.bcm.edu	37	6	41652465	41652465	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:41652465G>C	ENST00000230323.4	-	10	1604	c.1303C>G	c.(1303-1305)Ctc>Gtc	p.L435V	TFEB_ENST00000403298.4_Missense_Mutation_p.L435V|TFEB_ENST00000420312.1_Missense_Mutation_p.L350V|AL035588.1_ENST00000597468.1_5'Flank|TFEB_ENST00000373033.1_Missense_Mutation_p.L435V|TFEB_ENST00000358871.2_Missense_Mutation_p.L449V	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	435					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGAGCATGAGGTCCAGATCC	0.672			T	ALPHA	renal (childhood epithelioid)																																			Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	0			6											68.0	63.0	65.0					6																	41652465		2202	4300	6502	41760443	SO:0001583	missense	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.1303C>G	6.37:g.41652465G>C	ENSP00000230323:p.Leu435Val	Somatic		Capture	Illumina HiSeq	Phase_I	41760443	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124590	0.56613	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033	T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.05	2.11	0.27256	.	0.215065	0.37809	N	0.001929	T	0.53997	0.1831	L	0.60455	1.87	0.43714	D	0.996189	B;P;B	0.51449	0.201;0.945;0.073	B;P;B	0.55055	0.26;0.767;0.121	T	0.56007	-0.8050	10	0.54805	T	0.06	-16.6971	7.2089	0.25923	0.4534:0.0:0.5466:0.0	.	449;435;350	B0QYS6;P19484;P19484-2	.;TFEB_HUMAN;.	V	293;521;435;449;435;350;435	ENSP00000383998:L293V;ENSP00000343948:L521V;ENSP00000230323:L435V;ENSP00000351742:L449V;ENSP00000384203:L435V;ENSP00000412551:L350V;ENSP00000362124:L435V	ENSP00000230323:L435V	L	-	1	0	TFEB	41760443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.600000	0.46240	0.444000	0.26612	0.655000	0.94253	CTC		TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3		
PRPH2	5961	hgsc.bcm.edu	37	6	42689612	42689612	+	Missense_Mutation	SNP	T	T	C	rs61755786		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:42689612T>C	ENST00000230381.5	-	1	700	c.461A>G	c.(460-462)aAg>aGg	p.K154R		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	154					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTCGATGGTCTTCTTCATGAA	0.542																																																	0			6											119.0	105.0	110.0					6																	42689612		2203	4300	6503	42797590	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.461A>G	6.37:g.42689612T>C	ENSP00000230381:p.Lys154Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42797590	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	8.112	0.779109	0.16120	.	.	ENSG00000112619	ENST00000230381	T	0.78816	-1.21	5.78	5.78	0.91487	Tetraspanin, EC2 domain (1);	0.042558	0.85682	D	0.000000	T	0.41166	0.1147	N	0.04686	-0.185	0.43874	D	0.996483	B	0.02656	0.0	B	0.11329	0.006	T	0.47195	-0.9136	10	0.09084	T	0.74	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	154	P23942	PRPH2_HUMAN	R	154	ENSP00000230381:K154R	ENSP00000230381:K154R	K	-	2	0	PRPH2	42797590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.331000	0.52075	2.333000	0.79357	0.533000	0.62120	AAG		PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
ABCC10	89845	hgsc.bcm.edu	37	6	43400851	43400851	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:43400851G>A	ENST00000372530.4	+	3	1348	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	ABCC10_ENST00000244533.3_Missense_Mutation_p.G335E|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	378	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCTCCTACTGGGGAGGCCCTG	0.587																																																	0			6											59.0	61.0	60.0					6																	43400851		2203	4300	6503	43508829	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1133G>A	6.37:g.43400851G>A	ENSP00000361608:p.Gly378Glu	Somatic		Capture	Illumina HiSeq	Phase_I	43508829	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617825	0.87359	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.97752	-4.52;-4.52	5.2	5.2	0.72013	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99087	1.0839	10	0.87932	D	0	-10.6028	18.7462	0.91794	0.0:0.0:1.0:0.0	.	335;378	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	E	378;335	ENSP00000361608:G378E;ENSP00000244533:G335E	ENSP00000244533:G335E	G	+	2	0	ABCC10	43508829	1.000000	0.71417	0.945000	0.38365	0.985000	0.73830	9.869000	0.99810	2.445000	0.82738	0.561000	0.74099	GGG		ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
KIAA1586	57691	hgsc.bcm.edu	37	6	56918146	56918146	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:56918146T>C	ENST00000370733.4	+	4	1056	c.849T>C	c.(847-849)aaT>aaC	p.N283N	KIAA1586_ENST00000545356.1_Silent_p.N256N	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	283							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTGTTTAAATACACGTTACA	0.303																																																	0			6											34.0	37.0	36.0					6																	56918146		2199	4292	6491	57026105	SO:0001819	synonymous_variant	57691			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.849T>C	6.37:g.56918146T>C		Somatic		Capture	Illumina HiSeq	Phase_I	57026105	A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	CCDS34480.1																																																																																				KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	
PHF3	23469	hgsc.bcm.edu	37	6	64401918	64401918	+	Silent	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:64401918C>G	ENST00000262043.3	+	5	2821	c.2481C>G	c.(2479-2481)gtC>gtG	p.V827V	PHF3_ENST00000393387.1_Silent_p.V827V			Q92576	PHF3_HUMAN	PHD finger protein 3	827					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCACAAGGTCAAAATTTTAA	0.303																																					GBM(135;136 1820 29512 34071 46235)												0			6											46.0	48.0	47.0					6																	64401918		2203	4300	6503	64459877	SO:0001819	synonymous_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2481C>G	6.37:g.64401918C>G		Somatic		Capture	Illumina HiSeq	Phase_I	64459877	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	CCDS4966.1																																																																																				PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
LCA5	167691	hgsc.bcm.edu	37	6	80197476	80197476	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:80197476G>C	ENST00000392959.1	-	9	1950	c.1339C>G	c.(1339-1341)Cca>Gca	p.P447A	LCA5_ENST00000369846.4_Missense_Mutation_p.P447A	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	447					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTCTGAATTGGATACATTCCT	0.368																																																	0			6											125.0	126.0	126.0					6																	80197476		2203	4300	6503	80254195	SO:0001583	missense	167691				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1339C>G	6.37:g.80197476G>C	ENSP00000376686:p.Pro447Ala	Somatic		Capture	Illumina HiSeq	Phase_I	80254195	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	0.618	-0.822325	0.02755	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.28666	1.6;1.6	5.62	2.74	0.32292	.	0.617506	0.14991	N	0.286697	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.35151	-0.9800	10	0.37606	T	0.19	-0.5448	4.2777	0.10816	0.0791:0.1258:0.5296:0.2655	.	447	Q86VQ0	LCA5_HUMAN	A	447	ENSP00000358861:P447A;ENSP00000376686:P447A	ENSP00000358861:P447A	P	-	1	0	LCA5	80254195	0.045000	0.20229	0.002000	0.10522	0.002000	0.02628	0.826000	0.27407	0.705000	0.31890	0.491000	0.48974	CCA		LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
EPHA7	2045	hgsc.bcm.edu	37	6	94120432	94120432	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:94120432A>G	ENST00000369303.4	-	3	803	c.619T>C	c.(619-621)Tcc>Ccc	p.S207P	EPHA7_ENST00000369297.1_Missense_Mutation_p.S207P	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	207	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCAATAATGGACCAGCACTTC	0.438																																																	0			6											79.0	83.0	81.0					6																	94120432		2203	4300	6503	94177153	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.619T>C	6.37:g.94120432A>G	ENSP00000358309:p.Ser207Pro	Somatic		Capture	Illumina HiSeq	Phase_I	94177153	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181951	0.57800	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.72282	-0.64;4.38	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	L	0.38838	1.175	0.49213	D	0.999765	D;D;D;D	0.60575	0.965;0.967;0.988;0.98	P;P;P;P	0.55391	0.461;0.747;0.775;0.601	T	0.67193	-0.5732	10	0.40728	T	0.16	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	207;207;207;207	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	P	207	ENSP00000358309:S207P;ENSP00000358303:S207P	ENSP00000358303:S207P	S	-	1	0	EPHA7	94177153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.961000	0.63681	2.279000	0.76181	0.533000	0.62120	TCC		EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
BVES	11149	hgsc.bcm.edu	37	6	105564595	105564595	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:105564595T>A	ENST00000314641.5	-	6	1013	c.797A>T	c.(796-798)gAt>gTt	p.D266V	BVES_ENST00000336775.5_Missense_Mutation_p.D266V|BVES_ENST00000446408.2_Missense_Mutation_p.D266V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	266					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TAAGGTGGGATCATTCAATGA	0.279																																																	0			6											72.0	67.0	69.0					6																	105564595		2202	4296	6498	105671288	SO:0001583	missense	11149			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.797A>T	6.37:g.105564595T>A	ENSP00000313172:p.Asp266Val	Somatic		Capture	Illumina HiSeq	Phase_I	105671288	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374234	0.82573	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.37411	1.2;1.2;1.2	5.55	5.55	0.83447	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	M	0.73217	2.22	0.80722	D	1	P	0.51791	0.948	P	0.56088	0.791	T	0.49934	-0.8886	10	0.66056	D	0.02	-33.8687	15.9824	0.80121	0.0:0.0:0.0:1.0	.	266	Q8NE79	POPD1_HUMAN	V	266	ENSP00000313172:D266V;ENSP00000337259:D266V;ENSP00000397310:D266V	ENSP00000313172:D266V	D	-	2	0	BVES	105671288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.234000	0.73211	0.528000	0.53228	GAT		BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
UTRN	7402	hgsc.bcm.edu	37	6	144768791	144768791	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:144768791G>C	ENST00000367545.3	+	15	1776	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	592	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCTGAGTGAGATTGGCCAGG	0.383																																																	0			6											138.0	134.0	136.0					6																	144768791		2203	4300	6503	144810484	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1776G>C	6.37:g.144768791G>C	ENSP00000356515:p.Glu592Asp	Somatic		Capture	Illumina HiSeq	Phase_I	144810484	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944182	0.53079	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.36340	1.26	5.87	1.17	0.20885	.	0.000000	0.53938	D	0.000041	T	0.14657	0.0354	L	0.48362	1.52	0.80722	D	1	P	0.45594	0.862	B	0.40982	0.345	T	0.04242	-1.0966	10	0.23302	T	0.38	.	11.1818	0.48633	0.3594:0.0:0.6406:0.0	.	592	P46939	UTRO_HUMAN	D	592	ENSP00000356515:E592D	ENSP00000356499:E592D	E	+	3	2	UTRN	144810484	0.990000	0.36364	0.996000	0.52242	0.970000	0.65996	0.210000	0.17455	-0.004000	0.14419	-0.119000	0.15052	GAG		UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
LATS1	9113	hgsc.bcm.edu	37	6	150005395	150005395	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:150005395T>C	ENST00000543571.1	-	4	1377	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	LATS1_ENST00000253339.5_Missense_Mutation_p.Y277C|LATS1_ENST00000392273.3_Missense_Mutation_p.Y277C|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTTTCCAGAATAGCGCTTTGT	0.542																																																	0			6											179.0	170.0	173.0					6																	150005395		2203	4300	6503	150047088	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.830A>G	6.37:g.150005395T>C	ENSP00000437550:p.Tyr277Cys	Somatic		Capture	Illumina HiSeq	Phase_I	150047088		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755251	0.49362	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.55052	0.54;0.54;3.08	4.83	4.83	0.62350	.	0.000000	0.47093	D	0.000245	T	0.57359	0.2048	L	0.50333	1.59	0.51482	D	0.999926	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.98;0.997	T	0.58261	-0.7667	9	.	.	.	.	14.3767	0.66884	0.0:0.0:0.0:1.0	.	129;277;277	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	C	277	ENSP00000437550:Y277C;ENSP00000253339:Y277C;ENSP00000444678:Y277C	.	Y	-	2	0	LATS1	150047088	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.508000	0.60441	1.802000	0.52723	0.533000	0.62120	TAT		LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
SYNE1	23345	hgsc.bcm.edu	37	6	152651268	152651268	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:152651268T>G	ENST00000367255.5	-	78	15153	c.14552A>C	c.(14551-14553)tAt>tCt	p.Y4851S	SYNE1_ENST00000448038.1_Missense_Mutation_p.Y4780S|SYNE1_ENST00000341594.5_Missense_Mutation_p.Y4598S|SYNE1_ENST00000265368.4_Missense_Mutation_p.Y4851S|SYNE1_ENST00000423061.1_Missense_Mutation_p.Y4780S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4851					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTTTCTCATAAGCCAAGGG	0.502										HNSCC(10;0.0054)																																							0			6											78.0	66.0	70.0					6																	152651268		2203	4300	6503	152692961	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14552A>C	6.37:g.152651268T>G	ENSP00000356224:p.Tyr4851Ser	Somatic		Capture	Illumina HiSeq	Phase_I	152692961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	0.503	-0.870093	0.02570	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52295	0.77;0.76;0.67;0.76;0.85	5.78	3.36	0.38483	.	0.359316	0.24085	N	0.041687	T	0.16214	0.0390	L	0.48642	1.525	0.31344	N	0.683261	B;B;B;B	0.33883	0.43;0.304;0.304;0.43	B;B;B;B	0.32762	0.142;0.072;0.072;0.152	T	0.10567	-1.0624	10	0.22706	T	0.39	.	5.0076	0.14295	0.1157:0.064:0.121:0.6993	.	4851;4851;4851;4780	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	4851;4780;4851;4780;4598	ENSP00000356224:Y4851S;ENSP00000396024:Y4780S;ENSP00000265368:Y4851S;ENSP00000390975:Y4780S;ENSP00000341887:Y4598S	ENSP00000265368:Y4851S	Y	-	2	0	SYNE1	152692961	0.998000	0.40836	0.110000	0.21437	0.095000	0.18619	2.776000	0.47709	0.448000	0.26722	-0.332000	0.08345	TAT		SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
LPA	4018	hgsc.bcm.edu	37	6	160977190	160977190	+	Silent	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr6:160977190G>T	ENST00000316300.5	-	30	4884	c.4840C>A	c.(4840-4842)Cgg>Agg	p.R1614R	LPA_ENST00000447678.1_Silent_p.R1614R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGCACTGCCGGACCACAGGG	0.463																																																	0			6											105.0	108.0	107.0					6																	160977190		2161	4296	6457	160897180	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4840C>A	6.37:g.160977190G>T		Somatic		Capture	Illumina HiSeq	Phase_I	160897180	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
NUP88	4927	hgsc.bcm.edu	37	17	5298291	5298291	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:5298291A>C	ENST00000573584.1	-	9	1811	c.1302T>G	c.(1300-1302)gaT>gaG	p.D434E		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	434					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						AACTATCCTTATCTTCTTCAT	0.388																																																	0			17											148.0	136.0	140.0					17																	5298291		2203	4300	6503	5239015	SO:0001583	missense	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1302T>G	17.37:g.5298291A>C	ENSP00000458954:p.Asp434Glu	Somatic		Capture	Illumina HiSeq	Phase_I	5239015	D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582247	0.65992	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	5.16	1.64	0.23874	.	0.050355	0.85682	D	0.000000	T	0.64505	0.2604	M	0.71581	2.175	0.48632	D	0.999688	P;P;D	0.71674	0.775;0.817;0.998	B;B;D	0.67725	0.428;0.284;0.953	T	0.67292	-0.5707	9	0.05436	T	0.98	9.6813	9.5368	0.39226	0.7131:0.0:0.2869:0.0	.	434;303;434	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	E	434;303	.	ENSP00000225696:D434E	D	-	3	2	NUP88	5239015	0.932000	0.31603	1.000000	0.80357	0.994000	0.84299	0.086000	0.14935	0.144000	0.18951	0.528000	0.53228	GAT		NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532	
FXR2	9513	hgsc.bcm.edu	37	17	7496124	7496124	+	Silent	SNP	G	G	C	rs138143492	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:7496124G>C	ENST00000250113.7	-	14	1951	c.1617C>G	c.(1615-1617)ccC>ccG	p.P539P	SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	539						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CACTTGCTGGGGGGGGTTCCC	0.612																																																	0			17											21.0	23.0	22.0					17																	7496124		1813	4065	5878	7436849	SO:0001819	synonymous_variant	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1617C>G	17.37:g.7496124G>C		Somatic		Capture	Illumina HiSeq	Phase_I	7436849	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	CCDS45604.1																																																																																				FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic		Capture	Illumina HiSeq	Phase_I	7519131	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	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH1	4619	hgsc.bcm.edu	37	17	10401992	10401992	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:10401992T>G	ENST00000226207.5	-	30	4226	c.4132A>C	c.(4132-4134)Aaa>Caa	p.K1378Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1378					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCTCATATTTGGTCCTCCAC	0.517																																																	0			17											159.0	140.0	146.0					17																	10401992		2203	4300	6503	10342717	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4132A>C	17.37:g.10401992T>G	ENSP00000226207:p.Lys1378Gln	Somatic		Capture	Illumina HiSeq	Phase_I	10342717	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872306	0.91587	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.84589	-1.87	5.41	5.41	0.78517	Myosin tail (1);	0.000000	0.45867	U	0.000322	D	0.94817	0.8326	H	0.95917	3.74	0.58432	D	0.999993	D	0.76494	0.999	D	0.76071	0.987	D	0.96402	0.9297	10	0.87932	D	0	.	15.7287	0.77784	0.0:0.0:0.0:1.0	.	1378	P12882	MYH1_HUMAN	Q	1378;467	ENSP00000226207:K1378Q	ENSP00000226207:K1378Q	K	-	1	0	MYH1	10342717	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.993000	0.88291	2.177000	0.69029	0.533000	0.62120	AAA		MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
ALDH3A2	224	hgsc.bcm.edu	37	17	19552331	19552331	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:19552331G>T	ENST00000176643.6	+	1	493	c.47G>T	c.(46-48)cGg>cTg	p.R16L	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.R16L|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.R16L|Y_RNA_ENST00000578640.1_RNA|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.R16L|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.R16L			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	16					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					CTGTCCGGCCGGTCGCGACCT	0.701																																																	0			17											10.0	12.0	11.0					17																	19552331		2164	4256	6420	19492923	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.47G>T	17.37:g.19552331G>T	ENSP00000176643:p.Arg16Leu	Somatic		Capture	Illumina HiSeq	Phase_I	19492923	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099397	0.56183	.	.	ENSG00000072210	ENST00000446398;ENST00000176643;ENST00000395575;ENST00000339618	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.170384	0.48767	D	0.000162	T	0.80270	0.4592	M	0.71296	2.17	0.80722	D	1	P;P	0.50943	0.915;0.94	P;P	0.46076	0.46;0.503	T	0.82748	-0.0304	10	0.54805	T	0.06	-14.5518	16.0554	0.80798	0.0:0.0:1.0:0.0	.	16;16	P51648;P51648-2	AL3A2_HUMAN;.	L	16	ENSP00000395845:R16L;ENSP00000176643:R16L;ENSP00000378942:R16L;ENSP00000345774:R16L	ENSP00000176643:R16L	R	+	2	0	ALDH3A2	19492923	0.949000	0.32298	0.974000	0.42286	0.741000	0.42261	1.657000	0.37366	2.457000	0.83068	0.585000	0.79938	CGG		ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1		
ATAD5	79915	hgsc.bcm.edu	37	17	29204470	29204470	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:29204470A>G	ENST00000321990.4	+	16	4199	c.3821A>G	c.(3820-3822)cAg>cGg	p.Q1274R		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1274					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAAATTACTCAGACTAAATCT	0.303																																																	0			17											52.0	56.0	55.0					17																	29204470		2203	4298	6501	26228596	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3821A>G	17.37:g.29204470A>G	ENSP00000313171:p.Gln1274Arg	Somatic		Capture	Illumina HiSeq	Phase_I	26228596	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.494112	0.26774	.	.	ENSG00000176208	ENST00000321990	T	0.06608	3.28	5.09	1.58	0.23477	ATPase, AAA+ type, core (1);	2.948060	0.00890	N	0.002224	T	0.05960	0.0155	L	0.31294	0.92	0.09310	N	1	B	0.22414	0.069	B	0.12837	0.008	T	0.35151	-0.9800	10	0.28530	T	0.3	.	4.7657	0.13130	0.6665:0.1619:0.1717:0.0	.	1274	Q96QE3	ATAD5_HUMAN	R	1274	ENSP00000313171:Q1274R	ENSP00000313171:Q1274R	Q	+	2	0	ATAD5	26228596	0.113000	0.22115	0.046000	0.18839	0.939000	0.58152	0.686000	0.25392	0.341000	0.23771	0.397000	0.26171	CAG		ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
NF1	4763	hgsc.bcm.edu	37	17	29546045	29546045	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:29546045A>G	ENST00000358273.4	+	14	1933	c.1550A>G	c.(1549-1551)gAa>gGa	p.E517G	NF1_ENST00000431387.4_Missense_Mutation_p.E517G|NF1_ENST00000356175.3_Missense_Mutation_p.E517G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	517					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGGGGCCCGAAACCCAAGGC	0.428			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	17											61.0	59.0	59.0					17																	29546045		2203	4300	6503	26570171	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1550A>G	17.37:g.29546045A>G	ENSP00000351015:p.Glu517Gly	Somatic		Capture	Illumina HiSeq	Phase_I	26570171	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833390	0.71258	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.12039	2.72;2.97;3.11;2.81	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	M	0.69823	2.125	0.80722	D	1	B;B;B;P;B	0.42692	0.425;0.081;0.258;0.787;0.361	B;B;B;B;B	0.40199	0.125;0.068;0.11;0.322;0.244	T	0.01757	-1.1280	10	0.72032	D	0.01	.	15.8667	0.79071	1.0:0.0:0.0:0.0	.	517;517;517;517;517	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	G	517;517;517;183	ENSP00000412921:E517G;ENSP00000351015:E517G;ENSP00000348498:E517G;ENSP00000389907:E183G	ENSP00000348498:E517G	E	+	2	0	NF1	26570171	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	8.645000	0.91049	2.152000	0.67230	0.477000	0.44152	GAA		NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
ASIC2	40	hgsc.bcm.edu	37	17	31618780	31618780	+	Intron	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:31618780C>T	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Silent_p.T118T	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GGTGCACCCGCGTGTGTGACG	0.657																																																	0			17											31.0	31.0	31.0					17																	31618780		2203	4296	6499	28642893	SO:0001627	intron_variant	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179695G>A	17.37:g.31618780C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28642893	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	CCDS42296.1																																																																																				ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
MED1	5469	hgsc.bcm.edu	37	17	37566376	37566376	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:37566376G>T	ENST00000300651.6	-	17	2321	c.2098C>A	c.(2098-2100)Cca>Aca	p.P700T	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGGTGCTTTGGTTTCTCAGGT	0.463										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0			17											141.0	147.0	145.0					17																	37566376		2203	4300	6503	34819902	SO:0001583	missense	8930			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2098C>A	17.37:g.37566376G>T	ENSP00000300651:p.Pro700Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34819902	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	3.733	-0.055237	0.07362	.	.	ENSG00000125686	ENST00000300651	T	0.44083	0.93	5.8	5.8	0.92144	.	.	.	.	.	T	0.26702	0.0653	N	0.14661	0.345	0.44485	D	0.997424	B	0.18461	0.028	B	0.13407	0.009	T	0.09465	-1.0673	9	0.16420	T	0.52	-8.3344	14.8426	0.70237	0.0:0.0:0.8562:0.1438	.	700	Q15648	MED1_HUMAN	T	700	ENSP00000300651:P700T	ENSP00000300651:P700T	P	-	1	0	MED1	34819902	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	4.989000	0.63870	2.739000	0.93911	0.561000	0.74099	CCA		MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774	
CBX1	10951	hgsc.bcm.edu	37	17	46148800	46148800	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:46148800G>T	ENST00000393408.3	-	5	1035	c.555C>A	c.(553-555)aaC>aaA	p.N185K	CBX1_ENST00000225603.4_Missense_Mutation_p.N185K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	185					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						AGGAGCGTTAGTTCTTGTCAT	0.493																																					NSCLC(136;694 2497 38792 39034)												0			17											111.0	98.0	103.0					17																	46148800		2203	4300	6503	43503799	SO:0001583	missense	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.555C>A	17.37:g.46148800G>T	ENSP00000377060:p.Asn185Lys	Somatic		Capture	Illumina HiSeq	Phase_I	43503799	P23197	Missense_Mutation	SNP	ENST00000393408.3	37	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353344	0.61293	.	.	ENSG00000108468	ENST00000225603;ENST00000393408	.	.	.	5.17	1.75	0.24633	.	0.168352	0.37348	U	0.002129	T	0.45796	0.1360	N	0.08118	0	0.80722	D	1	P	0.51653	0.947	D	0.65140	0.932	T	0.47129	-0.9141	9	0.72032	D	0.01	.	7.2394	0.26088	0.5769:0.0:0.4231:0.0	.	185	P83916	CBX1_HUMAN	K	185	.	ENSP00000225603:N185K	N	-	3	2	CBX1	43503799	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.180000	0.42537	0.392000	0.25172	-0.427000	0.05922	AAC		CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807	
OR4D2	124538	hgsc.bcm.edu	37	17	56247304	56247304	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:56247304C>T	ENST00000545221.1	+	1	288	c.288C>T	c.(286-288)ggC>ggT	p.G96G		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTTACCAGGGCTGCATGGGTC	0.527																																																	0			17											113.0	104.0	107.0					17																	56247304		2203	4300	6503	53602303	SO:0001819	synonymous_variant	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.288C>T	17.37:g.56247304C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53602303	Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	CCDS32688.1																																																																																				OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1		
TEX14	56155	hgsc.bcm.edu	37	17	56642287	56642287	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:56642287T>G	ENST00000240361.8	-	29	4230	c.4145A>C	c.(4144-4146)gAa>gCa	p.E1382A	TEX14_ENST00000584699.1_5'Flank|TEX14_ENST00000389934.3_Missense_Mutation_p.E1376A|TEX14_ENST00000349033.5_Missense_Mutation_p.E1336A			Q8IWB6	TEX14_HUMAN	testis expressed 14	1382					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTACTATCTTCTTTTTTACT	0.323																																																	0			17											133.0	125.0	127.0					17																	56642287		2202	4297	6499	53997286	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4145A>C	17.37:g.56642287T>G	ENSP00000240361:p.Glu1382Ala	Somatic		Capture	Illumina HiSeq	Phase_I	53997286	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789798	0.50102	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.26067	1.76;1.76;1.76	4.58	1.16	0.20824	.	0.433332	0.21616	N	0.071714	T	0.28532	0.0706	L	0.54323	1.7	0.22280	N	0.999238	P;P;P	0.51791	0.792;0.948;0.868	B;P;B	0.50490	0.257;0.642;0.443	T	0.09818	-1.0657	10	0.52906	T	0.07	-3.1646	6.0873	0.19975	0.0:0.3217:0.0:0.6783	.	1382;1336;1376	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	A	1382;1376;1336	ENSP00000240361:E1382A;ENSP00000374584:E1376A;ENSP00000268910:E1336A	ENSP00000240361:E1382A	E	-	2	0	TEX14	53997286	1.000000	0.71417	0.913000	0.36048	0.832000	0.47134	0.650000	0.24858	0.013000	0.14918	0.477000	0.44152	GAA		TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
DUS1L	64118	hgsc.bcm.edu	37	17	80017882	80017882	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr17:80017882C>T	ENST00000354321.7	-	10	1595	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	DUS1L_ENST00000306796.5_Silent_p.K370K			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	370							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TTTGCTTGTTCTTGGACAGGA	0.632																																																	0			17											143.0	128.0	133.0					17																	80017882		2203	4300	6503	77611171	SO:0001819	synonymous_variant	64118				CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1110G>A	17.37:g.80017882C>T		Somatic		Capture	Illumina HiSeq	Phase_I	77611171	A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	CCDS32775.1																																																																																				DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156	
DSCAM	1826	hgsc.bcm.edu	37	21	41559867	41559867	+	Silent	SNP	A	A	G	rs367614504		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr21:41559867A>G	ENST00000400454.1	-	13	3078	c.2601T>C	c.(2599-2601)gcT>gcC	p.A867A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	867	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGAATTAATAGCATGGCAGG	0.398																																					Melanoma(134;970 1778 1785 21664 32388)												0			21						A		0,3730		0,0,1865	113.0	103.0	106.0		2601	-0.6	1.0	21		106	1,8203		0,1,4101	no	coding-synonymous	DSCAM	NM_001389.3		0,1,5966	GG,GA,AA		0.0122,0.0,0.0084		867/2013	41559867	1,11933	1865	4102	5967	40481737	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2601T>C	21.37:g.41559867A>G		Somatic		Capture	Illumina HiSeq	Phase_I	40481737	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
TMPRSS3	64699	hgsc.bcm.edu	37	21	43802319	43802319	+	Silent	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr21:43802319G>A	ENST00000291532.3	-	9	1762	c.807C>T	c.(805-807)acC>acT	p.T269T	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.T269T|TMPRSS3_ENST00000398405.1_Silent_p.T267T|TMPRSS3_ENST00000380399.1_Silent_p.T353T|TMPRSS3_ENST00000398397.3_Silent_p.T269T	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	269	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCACCTGGATGGTCCATGACT	0.502																																																	0			21											82.0	61.0	69.0					21																	43802319		2203	4300	6503	42675388	SO:0001819	synonymous_variant	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.807C>T	21.37:g.43802319G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42675388	D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	CCDS13686.1																																																																																				TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1		
SIK1	150094	hgsc.bcm.edu	37	21	44845357	44845357	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr21:44845357A>G	ENST00000270162.6	-	3	335	c.203T>C	c.(202-204)tTg>tCg	p.L68S		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GATTTTCTCCAAATTGCTTGA	0.333																																																	0			21											83.0	76.0	78.0					21																	44845357		2203	4300	6503	43669785	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.203T>C	21.37:g.44845357A>G	ENSP00000270162:p.Leu68Ser	Somatic		Capture	Illumina HiSeq	Phase_I	43669785	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716809	0.89205	.	.	ENSG00000142178	ENST00000270162	T	0.64438	-0.1	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.71160	0.3307	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74833	-0.3530	10	0.87932	D	0	.	14.7308	0.69379	1.0:0.0:0.0:0.0	.	68	P57059	SIK1_HUMAN	S	68	ENSP00000270162:L68S	ENSP00000270162:L68S	L	-	2	0	SIK1	43669785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.804000	0.91921	1.871000	0.54225	0.533000	0.62120	TTG		SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354	
TPSD1	23430	hgsc.bcm.edu	37	16	1306347	1306347	+	Silent	SNP	G	G	C	rs2005937	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:1306347G>C	ENST00000211076.3	+	1	214	c.66G>C	c.(64-66)ccG>ccC	p.P22P	TPSD1_ENST00000397534.2_Silent_p.P15P|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	22			P -> R (in dbSNP:rs3865205). {ECO:0000269|PubMed:9920877}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGGCGAGCCCGGCCTACGTGG	0.721													-|||	1100	0.219649	0.112	0.1571	5008	,	,		14369	0.3641		0.1938	False		,,,				2504	0.2873																0			16											31.0	38.0	36.0					16																	1306347		2197	4298	6495	1246348	SO:0001819	synonymous_variant	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.66G>C	16.37:g.1306347G>C		Somatic		Capture	Illumina HiSeq	Phase_I	1246348	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																				TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
SMG1	23049	hgsc.bcm.edu	37	16	18882777	18882777	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:18882777T>C	ENST00000446231.2	-	16	2623	c.2211A>G	c.(2209-2211)gaA>gaG	p.E737E	SMG1_ENST00000389467.3_Silent_p.E737E|snoU13_ENST00000459248.1_RNA			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		Somatic		Capture	Illumina HiSeq	Phase_I	18790278	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
ACSM3	6296	hgsc.bcm.edu	37	16	20781479	20781479	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:20781479C>T	ENST00000289416.5	+	2	598	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ACSM3_ENST00000440284.2_Silent_p.S41S|ACSM3_ENST00000450120.2_5'Flank	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	41					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.S41S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGAATTTCTCCAACTATGAAT	0.418																																																	1	Substitution - coding silent(1)	ovary(1)	16											88.0	84.0	86.0					16																	20781479		2201	4300	6501	20688980	SO:0001819	synonymous_variant	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.123C>T	16.37:g.20781479C>T		Somatic		Capture	Illumina HiSeq	Phase_I	20688980	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	CCDS10589.1																																																																																				ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	
ZNF689	115509	hgsc.bcm.edu	37	16	30616166	30616166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:30616166G>A	ENST00000287461.3	-	3	1259	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	308					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TGGATGCGCTGGTGGATGACG	0.672																																																	0			16											57.0	41.0	47.0					16																	30616166		2197	4300	6497	30523667	SO:0001587	stop_gained	115509			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.922C>T	16.37:g.30616166G>A	ENSP00000287461:p.Gln308*	Somatic		Capture	Illumina HiSeq	Phase_I	30523667	Q658J5	Nonsense_Mutation	SNP	ENST00000287461.3	37	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	33	5.205899	0.95033	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	.	.	.	5.08	5.08	0.68730	.	0.000000	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-52.947	9.6912	0.40129	0.0923:0.0:0.9077:0.0	.	.	.	.	X	308	.	ENSP00000287461:Q308X	Q	-	1	0	ZNF689	30523667	0.996000	0.38824	1.000000	0.80357	0.673000	0.39480	1.998000	0.40796	2.821000	0.97095	0.555000	0.69702	CAG		ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447	
PRR14	78994	hgsc.bcm.edu	37	16	30664106	30664106	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:30664106T>C	ENST00000542965.2	+	3	713	c.257T>C	c.(256-258)gTc>gCc	p.V86A	PRR14_ENST00000300835.4_Missense_Mutation_p.V86A			Q9BWN1	PRR14_HUMAN	proline rich 14	86	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CAGGATCCTGTCCACAGGCAG	0.642																																																	0			16											45.0	45.0	45.0					16																	30664106		2197	4300	6497	30571607	SO:0001583	missense	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.257T>C	16.37:g.30664106T>C	ENSP00000441641:p.Val86Ala	Somatic		Capture	Illumina HiSeq	Phase_I	30571607	Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192656	0.38707	.	.	ENSG00000156858	ENST00000300835;ENST00000542965	T;T	0.44083	0.93;0.93	5.3	1.18	0.20946	.	0.936261	0.08886	N	0.879322	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.23691	-1.0181	10	0.20046	T	0.44	-0.876	4.7687	0.13144	0.2504:0.0:0.3196:0.43	.	86	Q9BWN1	PRR14_HUMAN	A	86	ENSP00000300835:V86A;ENSP00000441641:V86A	ENSP00000300835:V86A	V	+	2	0	PRR14	30571607	0.063000	0.20901	0.008000	0.14137	0.333000	0.28666	0.326000	0.19646	0.819000	0.34492	0.477000	0.44152	GTC		PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031	
ABCC11	85320	hgsc.bcm.edu	37	16	48221275	48221275	+	Missense_Mutation	SNP	C	C	T	rs138453043		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:48221275C>T	ENST00000394747.1	-	20	3119	c.2770G>A	c.(2770-2772)Gca>Aca	p.A924T	ABCC11_ENST00000394748.1_Missense_Mutation_p.A924T|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A924T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A924T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	924	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGTCCCCTGCGAAGCAGTTC	0.522																																																	0			16						C	THR/ALA,THR/ALA,THR/ALA	0,4402		0,0,2201	53.0	48.0	50.0		2770,2770,2770	-4.9	0.0	16	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	58,58,58	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	924/1383,924/1383,924/1345	48221275	2,13000	2201	4300	6501	46778776	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2770G>A	16.37:g.48221275C>T	ENSP00000378230:p.Ala924Thr	Somatic		Capture	Illumina HiSeq	Phase_I	46778776	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119059	0.77323	0.0	2.33E-4	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.02	-4.87	0.03123	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.727994	0.13006	N	0.421300	T	0.72195	0.3430	N	0.11427	0.14	0.09310	N	0.999999	P;B	0.52170	0.951;0.042	B;B	0.40134	0.32;0.016	T	0.68059	-0.5509	10	0.52906	T	0.07	-3.6884	15.2142	0.73250	0.7913:0.2087:0.0:0.0	.	924;924	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	924	ENSP00000311326:A924T;ENSP00000349017:A924T;ENSP00000378231:A924T;ENSP00000378230:A924T	ENSP00000311326:A924T	A	-	1	0	ABCC11	46778776	0.005000	0.15991	0.004000	0.12327	0.860000	0.49131	-0.769000	0.04710	-0.377000	0.07930	0.563000	0.77884	GCA		ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
ADCY7	113	hgsc.bcm.edu	37	16	50346936	50346936	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:50346936G>A	ENST00000394697.2	+	22	3080	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	ADCY7_ENST00000254235.3_Missense_Mutation_p.D914N			P51828	ADCY7_HUMAN	adenylate cyclase 7	914	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GATCATTGCCGACTTCGACGA	0.567																																																	0			16											162.0	122.0	135.0					16																	50346936		2198	4300	6498	48904437	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2740G>A	16.37:g.50346936G>A	ENSP00000378187:p.Asp914Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48904437	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798834	0.90538	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.81415	-1.49;-1.49	5.39	4.44	0.53790	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.46145	U	0.000305	D	0.89132	0.6628	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90388	0.4393	10	0.87932	D	0	.	14.1413	0.65322	0.0722:0.0:0.9278:0.0	.	914	P51828	ADCY7_HUMAN	N	914	ENSP00000378187:D914N;ENSP00000254235:D914N	ENSP00000254235:D914N	D	+	1	0	ADCY7	48904437	1.000000	0.71417	0.712000	0.30502	0.793000	0.44817	9.828000	0.99408	1.276000	0.44395	0.491000	0.48974	GAC		ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
SLC12A4	6560	hgsc.bcm.edu	37	16	67979683	67979683	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:67979683G>A	ENST00000316341.3	-	21	2971	c.2831C>T	c.(2830-2832)aCt>aTt	p.T944I	CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.T938I|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.T944I|SLC12A4_ENST00000422611.2_Missense_Mutation_p.T946I|SLC12A4_ENST00000541864.2_Missense_Mutation_p.T913I|SLC12A4_ENST00000572037.1_Missense_Mutation_p.T896I|LCAT_ENST00000264005.5_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	944					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCCCGCTCAGTCTTGGTCAG	0.602																																																	0			16											92.0	68.0	76.0					16																	67979683		2198	4300	6498	66537184	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2831C>T	16.37:g.67979683G>A	ENSP00000318557:p.Thr944Ile	Somatic		Capture	Illumina HiSeq	Phase_I	66537184	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486167	0.63962	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.43	4.46	0.54185	.	0.055231	0.64402	D	0.000001	T	0.40297	0.1111	L	0.29908	0.895	0.80722	D	1	B;P;P;P;P;B	0.48230	0.391;0.711;0.907;0.809;0.713;0.291	B;B;P;B;B;B	0.48141	0.257;0.19;0.568;0.35;0.35;0.125	T	0.21075	-1.0256	10	0.40728	T	0.16	.	15.3799	0.74648	0.0:0.0:0.8595:0.1405	.	946;938;913;938;944;944	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	I	946;913;938;944	ENSP00000395983:T946I;ENSP00000438334:T913I;ENSP00000445962:T938I;ENSP00000318557:T944I	ENSP00000318557:T944I	T	-	2	0	SLC12A4	66537184	1.000000	0.71417	0.898000	0.35279	0.959000	0.62525	6.627000	0.74258	1.257000	0.44085	0.557000	0.71058	ACT		SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072	
WWOX	51741	hgsc.bcm.edu	37	16	78466521	78466521	+	Missense_Mutation	SNP	C	C	G	rs193001955	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:78466521C>G	ENST00000566780.1	+	8	1294	c.928C>G	c.(928-930)Cgc>Ggc	p.R310G	WWOX_ENST00000408984.3_Missense_Mutation_p.R310G|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	310	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GCTGCACCGTCGCCTCTCCCC	0.532																																																	0			16											121.0	124.0	123.0					16																	78466521		2070	4204	6274	77024022	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.928C>G	16.37:g.78466521C>G	ENSP00000457230:p.Arg310Gly	Somatic		Capture	Illumina HiSeq	Phase_I	77024022	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585471	0.86748	.	.	ENSG00000186153	ENST00000408984	D	0.90133	-2.62	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.106718	0.64402	D	0.000003	D	0.97263	0.9105	H	0.98218	4.175	0.80722	D	1	D	0.67145	0.996	D	0.63192	0.912	D	0.98030	1.0376	10	0.87932	D	0	.	20.3261	0.98701	0.0:1.0:0.0:0.0	.	310	Q9NZC7	WWOX_HUMAN	G	310	ENSP00000386161:R310G	ENSP00000386161:R310G	R	+	1	0	WWOX	77024022	1.000000	0.71417	0.974000	0.42286	0.423000	0.31445	7.487000	0.81328	2.814000	0.96858	0.655000	0.94253	CGC		WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1		
MAF	4094	hgsc.bcm.edu	37	16	79628417	79628417	+	3'UTR	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr16:79628417C>T	ENST00000393350.1	-	0	6194				MAF_ENST00000569649.1_Intron|MAF_ENST00000326043.4_Silent_p.V384V	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog						cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TGGCGTATCCCACTGATGGCT	0.398			T	IGH@	MM																																			Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0			16											53.0	45.0	48.0					16																	79628417		2198	4293	6491	78185918	SO:0001624	3_prime_UTR_variant	4094				CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.*4261G>A	16.37:g.79628417C>T		Somatic		Capture	Illumina HiSeq	Phase_I	78185918	Q66I47|Q9UP93	Silent	SNP	ENST00000393350.1	37	CCDS42198.1																																																																																				MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1		
OSBPL1A	114876	hgsc.bcm.edu	37	18	21897130	21897130	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr18:21897130T>C	ENST00000319481.3	-	11	1059	c.853A>G	c.(853-855)Act>Gct	p.T285A		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)	p.T285P(1)		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)					ACTGCTTGAGTCAGGTGTTTG	0.368																																																	1	Substitution - Missense(1)	ovary(1)	18											109.0	106.0	107.0					18																	21897130		2203	4300	6503	20151128	SO:0001583	missense	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.853A>G	18.37:g.21897130T>C	ENSP00000320291:p.Thr285Ala	Somatic		Capture	Illumina HiSeq	Phase_I	20151128	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211954	0.79240	.	.	ENSG00000141447	ENST00000319481	T	0.40225	1.04	5.73	5.73	0.89815	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.048710	0.85682	D	0.000000	T	0.55737	0.1939	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.75020	0.985;0.97	T	0.49041	-0.8980	10	0.11794	T	0.64	-23.2478	16.0013	0.80294	0.0:0.0:0.0:1.0	.	285;285	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	A	285	ENSP00000320291:T285A	ENSP00000320291:T285A	T	-	1	0	OSBPL1A	20151128	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.896000	0.75665	2.180000	0.69256	0.528000	0.53228	ACT		OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597	
CNTN6	27255	hgsc.bcm.edu	37	3	1424682	1424682	+	Silent	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:1424682G>C	ENST00000446702.2	+	18	2850	c.2223G>C	c.(2221-2223)cgG>cgC	p.R741R	CNTN6_ENST00000539053.1_Silent_p.R669R|CNTN6_ENST00000350110.2_Silent_p.R741R			Q9UQ52	CNTN6_HUMAN	contactin 6	741	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCATGTTCCGGCCAGTGGGCT	0.438																																																	0			3											129.0	119.0	122.0					3																	1424682		2203	4300	6503	1399682	SO:0001819	synonymous_variant	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2223G>C	3.37:g.1424682G>C		Somatic		Capture	Illumina HiSeq	Phase_I	1399682	Q2KHM2	Silent	SNP	ENST00000446702.2	37	CCDS2557.1																																																																																				CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
VHL	7428	hgsc.bcm.edu	37	3	10188269	10188269	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:10188269C>T	ENST00000256474.2	+	2	1252	c.412C>T	c.(412-414)Cca>Tca	p.P138S	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	138	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P138fs*1(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATTATTTGTGCCATCTCTCAA	0.418		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	2	Deletion - Frameshift(2)	kidney(2)	3											218.0	202.0	207.0					3																	10188269		2203	4300	6503	10163269	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.412C>T	3.37:g.10188269C>T	ENSP00000256474:p.Pro138Ser	Somatic		Capture	Illumina HiSeq	Phase_I	10163269	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525453	0.85600	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99910	-7.91	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.055770	0.64402	D	0.000001	D	0.99885	0.9945	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95853	0.8876	10	0.72032	D	0.01	-3.5977	16.3181	0.82935	0.0:1.0:0.0:0.0	.	138	P40337	VHL_HUMAN	S	138;56	ENSP00000256474:P138S	ENSP00000256474:P138S	P	+	1	0	VHL	10163269	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.392000	0.44433	2.530000	0.85305	0.563000	0.77884	CCA		VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
VHL	7428	hgsc.bcm.edu	37	3	10188300	10188300	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:10188300T>C	ENST00000256474.2	+	2	1283	c.443T>C	c.(442-444)tTt>tCt	p.F148S	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	148	Involved in binding to CCT complex.		Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I147fs*11(2)|p.F148fs*25(2)|p.A149fs*25(1)|p.I147fs*25(1)|p.F148del(1)|p.F148S(1)|p.I147fs*10(1)|p.I147_F148del(1)|p.P146fs*23(1)|p.F148fs*26(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGCCTATTTTTGCCAATATC	0.413		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	13	Deletion - Frameshift(8)|Deletion - In frame(2)|Insertion - Frameshift(2)|Substitution - Missense(1)	kidney(12)|adrenal_gland(1)	3											200.0	187.0	192.0					3																	10188300		2203	4300	6503	10163300	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.443T>C	3.37:g.10188300T>C	ENSP00000256474:p.Phe148Ser	Somatic		Capture	Illumina HiSeq	Phase_I	10163300	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.441055	0.63067	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99826	-6.98	4.89	4.89	0.63831	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.713701	0.13888	N	0.355806	D	0.98943	0.9641	L	0.34521	1.04	0.80722	D	1	P	0.39376	0.67	B	0.41088	0.347	D	0.99987	1.3423	10	0.09084	T	0.74	-2.6033	12.7607	0.57363	0.0:0.0:0.0:1.0	.	148	P40337	VHL_HUMAN	S	148;66	ENSP00000256474:F148S	ENSP00000256474:F148S	F	+	2	0	VHL	10163300	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.984000	0.49353	1.966000	0.57179	0.460000	0.39030	TTT		VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
RBMS3	27303	hgsc.bcm.edu	37	3	30029654	30029654	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:30029654T>C	ENST00000383767.2	+	13	1455	c.1119T>C	c.(1117-1119)ccT>ccC	p.P373P	RBMS3_ENST00000396583.3_Silent_p.P370P|RBMS3_ENST00000434693.2_Silent_p.P372P|RBMS3_ENST00000452462.1_Silent_p.P357P|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000456853.1_Silent_p.P370P|RBMS3_ENST00000273139.9_Silent_p.P357P|RBMS3_ENST00000383766.2_Silent_p.P355P			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	373					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTGCTGCTCCTATGCAAGGGA	0.418																																																	0			3											108.0	96.0	100.0					3																	30029654		2203	4300	6503	30004658	SO:0001819	synonymous_variant	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1119T>C	3.37:g.30029654T>C		Somatic		Capture	Illumina HiSeq	Phase_I	30004658	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	CCDS33724.1																																																																																				RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
CNOT10	25904	hgsc.bcm.edu	37	3	32761648	32761648	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:32761648A>G	ENST00000328834.5	+	8	1103	c.787A>G	c.(787-789)Aga>Gga	p.R263G	CNOT10_ENST00000331889.6_Missense_Mutation_p.R263G|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000538368.1_Missense_Mutation_p.R35G|CNOT10_ENST00000454516.2_Missense_Mutation_p.R323G	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	263					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TGAGTACTTAAGAGGTAATTA	0.318																																																	0			3											54.0	59.0	58.0					3																	32761648		2202	4299	6501	32736652	SO:0001583	missense	25904			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.787A>G	3.37:g.32761648A>G	ENSP00000330060:p.Arg263Gly	Somatic		Capture	Illumina HiSeq	Phase_I	32736652	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012315	0.75046	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.77098	-0.8;-0.8;-1.07;-0.8	5.78	-3.67	0.04476	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85318	0.5669	M	0.72353	2.195	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.983;0.998;0.996;0.994	D	0.84160	0.0428	10	0.52906	T	0.07	-19.8356	18.4722	0.90778	0.3758:0.6242:0.0:0.0	.	323;263;262;263	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	G	263;263;163;35;323	ENSP00000329376:R263G;ENSP00000330060:R263G;ENSP00000442552:R35G;ENSP00000399862:R323G	ENSP00000330060:R263G	R	+	1	2	CNOT10	32736652	1.000000	0.71417	0.929000	0.37066	0.918000	0.54935	2.447000	0.44917	-0.860000	0.04099	-0.545000	0.04230	AGA		CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442	
NBEAL2	23218	hgsc.bcm.edu	37	3	47042529	47042529	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:47042529C>T	ENST00000450053.3	+	28	4523	c.4344C>T	c.(4342-4344)aaC>aaT	p.N1448N	NBEAL2_ENST00000292309.5_Silent_p.N1264N|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1448					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGCTCACCAACGTGCTGTTCT	0.632																																																	0			3											80.0	95.0	90.0					3																	47042529		2132	4233	6365	47017533	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4344C>T	3.37:g.47042529C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47017533	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006384	0.19199	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.44	-3.06	0.05379	.	.	.	.	.	T	0.62527	0.2435	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60677	-0.7216	4	.	.	.	.	12.7995	0.57578	0.0:0.3396:0.0:0.6604	.	.	.	.	M	736	.	.	T	+	2	0	NBEAL2	47017533	0.680000	0.27605	0.955000	0.39395	0.959000	0.62525	-0.081000	0.11321	-0.571000	0.06014	-0.137000	0.14449	ACG		NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
PRKAR2A	5576	hgsc.bcm.edu	37	3	48820420	48820420	+	Splice_Site	SNP	G	G	A	rs201062271		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:48820420G>A	ENST00000265563.8	-	5	790	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	PRKAR2A_ENST00000454963.1_Splice_Site_p.R181W|PRKAR2A_ENST00000296446.8_Splice_Site_p.R181W	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	181					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		ATCTCCTACCGTTCTATGACA	0.433																																																	0			3											177.0	139.0	152.0					3																	48820420		2203	4300	6503	48795424	SO:0001630	splice_region_variant	5576				CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.542+1C>T	3.37:g.48820420G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48795424	Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719267	0.48728	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446	D;D;D	0.92911	-3.13;-3.13;-3.13	4.51	2.53	0.30540	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.329102	0.26967	N	0.021587	D	0.91868	0.7426	M	0.90082	3.085	0.53688	D	0.999973	B;B	0.32507	0.373;0.373	B;B	0.29598	0.104;0.079	D	0.89572	0.3814	10	0.72032	D	0.01	-2.8421	10.145	0.42758	0.0:0.1075:0.572:0.3205	.	181;181	Q9BUB1;P13861	.;KAP2_HUMAN	W	181	ENSP00000265563:R181W;ENSP00000394041:R181W;ENSP00000296446:R181W	ENSP00000265563:R181W	R	-	1	2	PRKAR2A	48795424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.709000	0.25734	0.492000	0.27815	0.655000	0.94253	CGG		PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1		Missense_Mutation
RNF123	63891	hgsc.bcm.edu	37	3	49724706	49724706	+	5'Flank	SNP	A	A	G	rs41291706		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:49724706A>G	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Silent_p.T86T|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000545762.1_Missense_Mutation_p.L109P|MST1_ENST00000494828.2_5'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.T161T	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATTCCGGAGAGTGGGCGTGT	0.597																																																	0			3											41.0	38.0	39.0					3																	49724706		2202	4300	6502	49699710	SO:0001631	upstream_gene_variant	6789			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724706A>G	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	49699710	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634004	0.67130	.	.	ENSG00000173531	ENST00000545762	T	0.52754	0.65	6.08	-12.2	0.00006	.	.	.	.	.	T	0.18551	0.0445	.	.	.	0.23677	N	0.997139	.	.	.	.	.	.	T	0.06588	-1.0818	5	.	.	.	.	0.8186	0.01107	0.2049:0.2584:0.248:0.2887	.	.	.	.	P	109	ENSP00000437535:L109P	.	L	-	2	0	MST1	49699710	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-1.140000	0.03210	-2.137000	0.00809	-1.869000	0.00555	CTC		RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	
DNAH12	201625	hgsc.bcm.edu	37	3	57458291	57458291	+	Silent	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:57458291G>T	ENST00000351747.2	-	14	1938	c.1758C>A	c.(1756-1758)atC>atA	p.I586I	DNAH12_ENST00000389536.4_Silent_p.I586I|snoU13_ENST00000459308.1_RNA	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	586	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTTCATCAAAGATGGGATTAA	0.323																																																	0			3											111.0	92.0	98.0					3																	57458291		692	1587	2279	57433331	SO:0001819	synonymous_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1758C>A	3.37:g.57458291G>T		Somatic		Capture	Illumina HiSeq	Phase_I	57433331	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																					DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
MITF	4286	hgsc.bcm.edu	37	3	69987181	69987181	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:69987181A>C	ENST00000448226.2	+	3	690	c.563A>C	c.(562-564)aAc>aCc	p.N188T	MITF_ENST00000472437.1_Missense_Mutation_p.N136T|MITF_ENST00000328528.6_Missense_Mutation_p.N187T|MITF_ENST00000394355.2_Missense_Mutation_p.N163T|MITF_ENST00000314589.5_Missense_Mutation_p.N172T|MITF_ENST00000394351.3_Missense_Mutation_p.N81T|MITF_ENST00000314557.6_Missense_Mutation_p.N81T|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000531774.1_Intron|MITF_ENST00000352241.4_Missense_Mutation_p.N188T			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	188					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.N188T(1)|p.N81T(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTACGCTTAACTCCAACTGT	0.493			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)			Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	2	Substitution - Missense(2)	lung(2)	3											79.0	69.0	72.0					3																	69987181		2203	4300	6503	70069871	SO:0001583	missense	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.563A>C	3.37:g.69987181A>C	ENSP00000391803:p.Asn188Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70069871	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	A	13.32	2.201805	0.38905	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.22336	2.76;2.28;2.56;2.77;1.96;2.78;2.78;2.54;1.96	5.69	5.69	0.88448	.	0.259977	0.49916	D	0.000123	T	0.21550	0.0519	L	0.53249	1.67	0.45662	D	0.998585	B;P;B;B;P;B;P	0.40834	0.354;0.534;0.321;0.203;0.73;0.109;0.696	B;B;B;B;B;B;B	0.39876	0.101;0.205;0.205;0.099;0.312;0.099;0.205	T	0.02275	-1.1184	9	.	.	.	.	10.3096	0.43702	0.9267:0.0:0.0733:0.0	.	136;81;81;163;172;187;188	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	T	188;188;136;187;172;172;163;81;81	ENSP00000295600:N188T;ENSP00000391803:N188T;ENSP00000418845:N136T;ENSP00000327867:N187T;ENSP00000398639:N172T;ENSP00000324443:N172T;ENSP00000377884:N163T;ENSP00000324246:N81T;ENSP00000377880:N81T	.	N	+	2	0	MITF	70069871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.046000	0.57376	2.147000	0.66899	0.533000	0.62120	AAC		MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159	
EPHA6	285220	hgsc.bcm.edu	37	3	96533676	96533676	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:96533676A>T	ENST00000389672.5	+	1	247	c.209A>T	c.(208-210)cAt>cTt	p.H70L	EPHA6_ENST00000542517.1_5'UTR|EPHA6_ENST00000470610.2_Missense_Mutation_p.H70L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAGGACCCCCATCCTACCCAG	0.647																																																	0			3											19.0	25.0	23.0					3																	96533676		1939	4124	6063	98016366	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.209A>T	3.37:g.96533676A>T	ENSP00000374323:p.His70Leu	Somatic		Capture	Illumina HiSeq	Phase_I	98016366	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	7.362	0.625086	0.14257	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	T;T	0.74315	5.06;-0.83	5.45	-3.65	0.04502	.	.	.	.	.	T	0.45955	0.1368	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.25187	-1.0139	9	0.52906	T	0.07	.	1.0418	0.01560	0.3308:0.2853:0.2454:0.1386	.	70;70	B3KS12;E7EU71	.;.	L	70	ENSP00000420598:H70L;ENSP00000374323:H70L	ENSP00000374323:H70L	H	+	2	0	EPHA6	98016366	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.227000	0.09126	-0.519000	0.06444	-1.054000	0.02325	CAT		EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
ATP6V1A	523	hgsc.bcm.edu	37	3	113497629	113497629	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:113497629T>C	ENST00000273398.3	+	2	137	c.29T>C	c.(28-30)cTc>cCc	p.L10P	ATP6V1A_ENST00000538620.1_5'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	10					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CCCAAAATACTCGATGAAGAT	0.299																																																	0			3											68.0	69.0	68.0					3																	113497629		2203	4298	6501	114980319	SO:0001583	missense	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.29T>C	3.37:g.113497629T>C	ENSP00000273398:p.Leu10Pro	Somatic		Capture	Illumina HiSeq	Phase_I	114980319	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878776	0.33162	.	.	ENSG00000114573	ENST00000273398;ENST00000475322	D	0.86297	-2.1	5.6	-2.31	0.06765	.	0.812558	0.11185	N	0.590530	T	0.68888	0.3050	N	0.08118	0	0.35779	D	0.821539	B	0.06786	0.001	B	0.04013	0.001	T	0.56553	-0.7960	10	0.33141	T	0.24	-0.2848	5.7074	0.17915	0.0904:0.1547:0.5749:0.18	.	10	P38606	VATA_HUMAN	P	10	ENSP00000273398:L10P	ENSP00000273398:L10P	L	+	2	0	ATP6V1A	114980319	0.962000	0.33011	0.805000	0.32314	0.995000	0.86356	1.537000	0.36083	0.101000	0.17610	0.482000	0.46254	CTC		ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	
PIK3R4	30849	hgsc.bcm.edu	37	3	130463546	130463546	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:130463546T>C	ENST00000356763.3	-	2	1074	c.517A>G	c.(517-519)Act>Gct	p.T173A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGAAGATAAGTGGGCTTAAAA	0.428																																																	0			3											83.0	82.0	82.0					3																	130463546		2203	4300	6503	131946236	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.517A>G	3.37:g.130463546T>C	ENSP00000349205:p.Thr173Ala	Somatic		Capture	Illumina HiSeq	Phase_I	131946236	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671509	0.47781	.	.	ENSG00000196455	ENST00000356763	T	0.63913	-0.07	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	N	0.19112	0.55	0.80722	D	1	P	0.44521	0.837	P	0.49561	0.615	T	0.59648	-0.7415	10	0.41790	T	0.15	-27.1119	15.317	0.74089	0.0:0.0:0.0:1.0	.	173	Q99570	PI3R4_HUMAN	A	173	ENSP00000349205:T173A	ENSP00000349205:T173A	T	-	1	0	PIK3R4	131946236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.215000	0.72206	2.092000	0.63282	0.379000	0.24179	ACT		PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
TF	7018	hgsc.bcm.edu	37	3	133485148	133485148	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:133485148A>T	ENST00000402696.3	+	12	1842	c.1357A>T	c.(1357-1359)Aaa>Taa	p.K453*	TF_ENST00000264998.3_Nonsense_Mutation_p.K326*	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	453	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AGTGGTGAAGAAATCAGCTTC	0.493																																																	0			3											218.0	212.0	214.0					3																	133485148		2203	4300	6503	134967838	SO:0001587	stop_gained	7018				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1357A>T	3.37:g.133485148A>T	ENSP00000385834:p.Lys453*	Somatic		Capture	Illumina HiSeq	Phase_I	134967838	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Nonsense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	A	40	8.506167	0.98841	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	.	.	.	4.87	-4.34	0.03666	.	0.496690	0.25214	N	0.032295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0228	6.8814	0.24174	0.4081:0.0:0.439:0.1529	.	.	.	.	X	453;326	.	ENSP00000264998:K326X	K	+	1	0	TF	134967838	0.397000	0.25270	0.000000	0.03702	0.075000	0.17131	1.110000	0.31147	-0.868000	0.04058	0.379000	0.24179	AAA		TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
STAG1	10274	hgsc.bcm.edu	37	3	136221520	136221520	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:136221520C>T	ENST00000383202.2	-	8	1034	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	STAG1_ENST00000434713.2_Missense_Mutation_p.G34R|STAG1_ENST00000236698.5_Missense_Mutation_p.G260R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	260					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GCTCTCTTCCCAATCATTTTA	0.388																																																	0			3											170.0	161.0	164.0					3																	136221520		2203	4300	6503	137704210	SO:0001583	missense	56937			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.778G>A	3.37:g.136221520C>T	ENSP00000372689:p.Gly260Arg	Somatic		Capture	Illumina HiSeq	Phase_I	137704210	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369463	0.95900	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.41400	1.0;1.0;1.0	5.67	5.67	0.87782	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.72894	2.215	0.80722	D	1	B;D;B	0.54397	0.033;0.966;0.033	B;P;B	0.62491	0.141;0.903;0.141	T	0.58601	-0.7608	10	0.35671	T	0.21	.	19.7542	0.96283	0.0:1.0:0.0:0.0	.	277;260;260	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	R	260;260;34	ENSP00000372689:G260R;ENSP00000236698:G260R;ENSP00000404396:G34R	ENSP00000236698:G260R	G	-	1	0	STAG1	137704210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.677000	0.91161	0.491000	0.48974	GGG		STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
MFSD1	64747	hgsc.bcm.edu	37	3	158524841	158524841	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:158524841C>G	ENST00000264266.8	+	4	404	c.342C>G	c.(340-342)atC>atG	p.I114M	MFSD1_ENST00000415822.2_Missense_Mutation_p.I163M|MFSD1_ENST00000392813.4_Missense_Mutation_p.I124M			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	114					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGGGCACAATCATTTTTAGCT	0.299																																					Pancreas(62;1186 1654 36636 37908)												0			3											111.0	103.0	106.0					3																	158524841		2203	4299	6502	160007535	SO:0001583	missense	64747			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.342C>G	3.37:g.158524841C>G	ENSP00000264266:p.Ile114Met	Somatic		Capture	Illumina HiSeq	Phase_I	160007535	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37		.	.	.	.	.	.	.	.	.	.	C	15.54	2.862852	0.51482	.	.	ENSG00000118855	ENST00000486568;ENST00000415822;ENST00000392813;ENST00000264266;ENST00000474670;ENST00000482835	T;T;T;T;T;D	0.82081	0.2;0.41;0.38;0.41;0.41;-1.57	4.98	-0.254	0.12992	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.175219	0.49305	D	0.000154	D	0.85982	0.5824	M	0.74546	2.27	0.39370	D	0.966063	P;P	0.50528	0.932;0.936	P;D	0.64877	0.755;0.93	T	0.80839	-0.1203	10	0.45353	T	0.12	.	3.8171	0.08819	0.4025:0.2539:0.0:0.3436	.	124;114	C9JS94;Q9H3U5	.;MFSD1_HUMAN	M	98;163;124;114;87;103	ENSP00000417414:I98M;ENSP00000403117:I163M;ENSP00000376560:I124M;ENSP00000264266:I114M;ENSP00000419708:I87M;ENSP00000418503:I103M	ENSP00000264266:I114M	I	+	3	3	MFSD1	160007535	1.000000	0.71417	0.995000	0.50966	0.878000	0.50629	0.576000	0.23744	-0.301000	0.08882	-0.312000	0.09012	ATC		MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736	
SLITRK3	22865	hgsc.bcm.edu	37	3	164906727	164906727	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:164906727T>G	ENST00000475390.1	-	2	2335	c.1892A>C	c.(1891-1893)cAc>cCc	p.H631P	SLITRK3_ENST00000241274.3_Missense_Mutation_p.H631P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	631					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						CCCAATAAGGTGAGAATCTCC	0.537										HNSCC(40;0.11)																																							0			3											34.0	37.0	36.0					3																	164906727		2203	4300	6503	166389421	SO:0001583	missense	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.1892A>C	3.37:g.164906727T>G	ENSP00000420091:p.His631Pro	Somatic		Capture	Illumina HiSeq	Phase_I	166389421	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.544054	0.00934	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52526	0.66;0.66	5.02	2.51	0.30379	.	0.188409	0.26143	N	0.026099	T	0.27349	0.0671	N	0.19112	0.55	0.36127	D	0.84584	B	0.02656	0.0	B	0.01281	0.0	T	0.12243	-1.0555	10	0.24483	T	0.36	-3.9152	6.6196	0.22796	0.1534:0.0:0.1605:0.6861	.	631	O94933	SLIK3_HUMAN	P	631	ENSP00000420091:H631P;ENSP00000241274:H631P	ENSP00000241274:H631P	H	-	2	0	SLITRK3	166389421	0.530000	0.26330	0.017000	0.16124	0.028000	0.11728	0.799000	0.27028	0.420000	0.25954	0.533000	0.62120	CAC		SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
PIK3CA	5290	hgsc.bcm.edu	37	3	178936098	178936098	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:178936098A>G	ENST00000263967.3	+	10	1797	c.1640A>G	c.(1639-1641)gAg>gGg	p.E547G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	547	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACTGAGCAGGAGAAAGATTTT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											62.0	62.0	62.0					3																	178936098		1812	4070	5882	180418792	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1640A>G	3.37:g.178936098A>G	ENSP00000263967:p.Glu547Gly	Somatic		Capture	Illumina HiSeq	Phase_I	180418792	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543251	0.86022	.	.	ENSG00000121879	ENST00000263967	T	0.70399	-0.48	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85737	0.5766	M	0.87900	2.915	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	D	0.88339	0.2973	10	0.87932	D	0	-14.9038	16.1026	0.81194	1.0:0.0:0.0:0.0	.	547	P42336	PK3CA_HUMAN	G	547	ENSP00000263967:E547G	ENSP00000263967:E547G	E	+	2	0	PIK3CA	180418792	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
IL1RAP	3556	hgsc.bcm.edu	37	3	190347158	190347158	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:190347158G>C	ENST00000412504.2	+	8	1174	c.922G>C	c.(922-924)Gaa>Caa	p.E308Q	IL1RAP_ENST00000422485.1_Missense_Mutation_p.E308Q|IL1RAP_ENST00000422940.1_Missense_Mutation_p.E308Q|IL1RAP_ENST00000443369.2_Missense_Mutation_p.E308Q|IL1RAP_ENST00000072516.3_Missense_Mutation_p.E308Q|IL1RAP_ENST00000447382.1_Missense_Mutation_p.E308Q|IL1RAP_ENST00000317757.3_Missense_Mutation_p.E308Q|IL1RAP_ENST00000439062.1_Missense_Mutation_p.E308Q|IL1RAP_ENST00000434491.1_Missense_Mutation_p.E167Q			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	308	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TAGTAGAACAGAAGATGAAAC	0.398																																																	0			3											49.0	47.0	48.0					3																	190347158		2203	4300	6503	191829852	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.922G>C	3.37:g.190347158G>C	ENSP00000412053:p.Glu308Gln	Somatic		Capture	Illumina HiSeq	Phase_I	191829852	B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.69|16.69	3.194082|3.194082	0.58017|0.58017	.|.	.|.	ENSG00000196083|ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757|ENST00000412080	T;T;T;T;T;T;T;T;T|.	0.14022|.	2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.288241|.	0.38436|.	N|.	0.001690|.	T|T	0.70334|0.70334	0.3212|0.3212	L|L	0.56769|0.56769	1.78|1.78	0.39501|0.39501	D|D	0.968191|0.968191	D;D;P;D|.	0.64830|.	0.994;0.983;0.938;0.979|.	P;P;B;B|.	0.52386|.	0.697;0.469;0.218;0.37|.	T|T	0.69172|0.69172	-0.5215|-0.5215	10|5	0.23302|.	T|.	0.38|.	.|.	15.3482|15.3482	0.74359|0.74359	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;308;308;308|.	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2|.	.;.;IL1AP_HUMAN;.|.	Q|H	308;308;308;308;308;308;167;308;308|144	ENSP00000072516:E308Q;ENSP00000408893:E308Q;ENSP00000412053:E308Q;ENSP00000401132:E308Q;ENSP00000390541:E308Q;ENSP00000409352:E308Q;ENSP00000391899:E167Q;ENSP00000387371:E308Q;ENSP00000314807:E308Q|.	ENSP00000072516:E308Q|.	E|Q	+|+	1|3	0|2	IL1RAP|IL1RAP	191829852|191829852	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.849000|0.849000	0.48306|0.48306	4.814000|4.814000	0.62627|0.62627	2.705000|2.705000	0.92388|0.92388	0.650000|0.650000	0.86243|0.86243	GAA|CAG		IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1		
CCDC50	152137	hgsc.bcm.edu	37	3	191093014	191093014	+	Intron	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:191093014G>T	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Silent_p.L204L	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGAGATCCCTGTCATCCTCTA	0.488																																																	0			3											93.0	82.0	86.0					3																	191093014		2203	4300	6503	192575708	SO:0001627	intron_variant	152137			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4934G>T	3.37:g.191093014G>T		Somatic		Capture	Illumina HiSeq	Phase_I	192575708	Q86VH7	Silent	SNP	ENST00000392455.3	37	CCDS33913.1																																																																																				CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	
TCTEX1D2	255758	hgsc.bcm.edu	37	3	196033843	196033843	+	Silent	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:196033843C>G	ENST00000325318.5	-	3	423	c.288G>C	c.(286-288)gtG>gtC	p.V96V	RP11-447L10.1_ENST00000431391.1_Silent_p.V96V	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	96										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GTTCTCCAATCACTACTTGCA	0.323																																																	0			3											221.0	203.0	209.0					3																	196033843		2203	4300	6503	197518240	SO:0001819	synonymous_variant	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.288G>C	3.37:g.196033843C>G		Somatic		Capture	Illumina HiSeq	Phase_I	197518240	A6NCN5	Silent	SNP	ENST00000325318.5	37	CCDS33929.1																																																																																				TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341166.1	NM_152773	
CACNA2D4	93589	hgsc.bcm.edu	37	12	1987537	1987537	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:1987537C>T	ENST00000382722.5	-	16	2025	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A440T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A491T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A555T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A491T|CACNA2D4_ENST00000587995.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	555	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTCAGAAAGGCGTATCCGTGC	0.577																																					Colon(2;101 179 21030 23310 28141)												0			12											65.0	71.0	69.0					12																	1987537		2078	4198	6276	1857798	SO:0001583	missense	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1663G>A	12.37:g.1987537C>T	ENSP00000372169:p.Ala555Thr	Somatic		Capture	Illumina HiSeq	Phase_I	1857798	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458685	0.96240	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09630	2.96	5.6	5.6	0.85130	Cache (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.97110	0.889;1.0	T	0.16928	-1.0386	10	0.66056	D	0.02	.	19.6224	0.95663	0.0:1.0:0.0:0.0	.	555;555	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	T	491;555;555	ENSP00000372169:A555T	ENSP00000280663:A555T	A	-	1	0	CACNA2D4	1857798	1.000000	0.71417	0.991000	0.47740	0.883000	0.51084	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	GCC		CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
PARP11	57097	hgsc.bcm.edu	37	12	3939084	3939084	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:3939084G>T	ENST00000228820.4	-	2	263	c.119C>A	c.(118-120)gCa>gAa	p.A40E	PARP11_ENST00000397096.2_Missense_Mutation_p.A33E|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	33	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CCCACATTCTGCCAAGTAAAA	0.398																																																	0			12											182.0	164.0	170.0					12																	3939084		2203	4300	6503	3809345	SO:0001583	missense	57097			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.119C>A	12.37:g.3939084G>T	ENSP00000228820:p.Ala40Glu	Somatic		Capture	Illumina HiSeq	Phase_I	3809345	B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	CCDS8523.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.559194|4.559194	0.86335|0.86335	.|.	.|.	ENSG00000111224|ENSG00000111224	ENST00000397096;ENST00000228820|ENST00000450737	T;T|.	0.42131|.	0.98;0.98|.	5.52|5.52	4.62|4.62	0.57501|0.57501	WWE domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64080|0.64080	0.2566|0.2566	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;D|.	0.61697|.	0.539;0.99|.	B;D|.	0.63033|.	0.12;0.91|.	T|T	0.67825|0.67825	-0.5570|-0.5570	10|6	0.19590|0.87932	T|D	0.45|0	.|.	13.4619|13.4619	0.61231|0.61231	0.0:0.0:0.8423:0.1577|0.0:0.0:0.8423:0.1577	.|.	40;33|.	Q9NR21-4;Q9NR21|.	.;PAR11_HUMAN|.	E|K	33;40|19	ENSP00000380284:A33E;ENSP00000228820:A40E|.	ENSP00000228820:A40E|ENSP00000387481:Q19K	A|Q	-|-	2|1	0|0	PARP11|PARP11	3809345|3809345	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.998000|0.998000	0.95712|0.95712	8.705000|8.705000	0.91357|0.91357	1.542000|1.542000	0.49330|0.49330	0.563000|0.563000	0.77884|0.77884	GCA|CAG		PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1		
A2M	2	hgsc.bcm.edu	37	12	9243952	9243952	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:9243952G>T	ENST00000318602.7	-	19	2621	c.2314C>A	c.(2314-2316)Ctg>Atg	p.L772M		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	772					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCTTCAGACAGGCAGAAGGCC	0.547																																																	0			12											115.0	123.0	120.0					12																	9243952		2203	4300	6503	9135219	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2314C>A	12.37:g.9243952G>T	ENSP00000323929:p.Leu772Met	Somatic		Capture	Illumina HiSeq	Phase_I	9135219	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575017	0.28092	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.31510	1.49	5.28	3.46	0.39613	Alpha-2-macroglobulin (1);	0.243199	0.29133	N	0.013045	T	0.39410	0.1077	M	0.64404	1.975	0.29519	N	0.85362	D	0.61697	0.99	P	0.59546	0.859	T	0.32348	-0.9910	10	0.31617	T	0.26	.	3.0815	0.06264	0.1578:0.1708:0.5461:0.1253	.	772	P01023	A2MG_HUMAN	M	772;787	ENSP00000323929:L772M	ENSP00000323929:L772M	L	-	1	2	A2M	9135219	0.091000	0.21658	1.000000	0.80357	0.225000	0.24961	-0.144000	0.10280	0.627000	0.30340	-0.225000	0.12378	CTG		A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
KLRC4	8302	hgsc.bcm.edu	37	12	10562102	10562102	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:10562102T>G	ENST00000309384.1	-	1	254	c.73A>C	c.(73-75)Aag>Cag	p.K25Q	KLRC4-KLRK1_ENST00000539300.1_Nonstop_Mutation_p.*16S	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	25					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TTATTGCCCTTAAGTTTCCTT	0.428																																																	0			12											227.0	217.0	220.0					12																	10562102		2203	4300	6503	10453369	SO:0001583	missense	8302			U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.73A>C	12.37:g.10562102T>G	ENSP00000310216:p.Lys25Gln	Somatic		Capture	Illumina HiSeq	Phase_I	10453369	O60851	Missense_Mutation	SNP	ENST00000309384.1	37	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175784	0.38413	.	.	ENSG00000183542	ENST00000309384	T	0.10668	2.85	4.0	2.83	0.33086	.	0.674231	0.13892	N	0.355553	T	0.29093	0.0723	M	0.79614	2.46	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05321	-1.0892	10	0.44086	T	0.13	.	6.6628	0.23024	0.0:0.1165:0.0:0.8835	.	25	O43908	NKG2F_HUMAN	Q	25	ENSP00000310216:K25Q	ENSP00000310216:K25Q	K	-	1	0	KLRC4	10453369	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	0.439000	0.21575	0.653000	0.30826	0.377000	0.23210	AAG		KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431	
TAS2R30	259293	hgsc.bcm.edu	37	12	11286425	11286425	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:11286425A>T	ENST00000539585.1	-	1	818	c.419T>A	c.(418-420)tTg>tAg	p.L140*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	140					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATGACAAACCAAAAATAGCAA	0.383																																																	0			12											118.0	127.0	124.0					12																	11286425		2149	4275	6424	11177692	SO:0001587	stop_gained	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.419T>A	12.37:g.11286425A>T	ENSP00000444736:p.Leu140*	Somatic		Capture	Illumina HiSeq	Phase_I	11177692	Q645X7	Nonsense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	28.0	4.879691	0.91740	.	.	ENSG00000256188	ENST00000539585	.	.	.	2.3	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.093	0.14718	0.6894:0.3106:0.0:0.0	.	.	.	.	X	140	.	ENSP00000444736:L140X	L	-	2	0	TAS2R30	11177692	0.008000	0.16893	0.005000	0.12908	0.031000	0.12232	2.378000	0.44309	0.126000	0.18424	0.254000	0.18369	TTG		TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643	
KIAA1551	55196	hgsc.bcm.edu	37	12	32134982	32134982	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:32134982G>C	ENST00000312561.4	+	4	1507	c.1093G>C	c.(1093-1095)Gct>Cct	p.A365P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	365																	TCAGACTCTTGCTCAAACTAA	0.358																																																	0			12											72.0	74.0	74.0					12																	32134982		2203	4300	6503	32026249	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1093G>C	12.37:g.32134982G>C	ENSP00000310338:p.Ala365Pro	Somatic		Capture	Illumina HiSeq	Phase_I	32026249	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867234	0.17250	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06142	3.98;3.34	4.93	-5.49	0.02584	.	1.161280	0.06333	N	0.706576	T	0.02970	0.0088	N	0.17082	0.46	0.09310	N	1	B	0.17038	0.02	B	0.21546	0.035	T	0.46034	-0.9220	9	.	.	.	.	0.5029	0.00582	0.2083:0.2148:0.246:0.3308	.	365	Q9HCM1	CL035_HUMAN	P	365	ENSP00000310338:A365P;ENSP00000370442:A365P	.	A	+	1	0	C12orf35	32026249	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.337000	0.02657	-0.934000	0.03733	-0.300000	0.09419	GCT		KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIF21A	55605	hgsc.bcm.edu	37	12	39725513	39725513	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:39725513G>T	ENST00000361418.5	-	22	3147	c.3132C>A	c.(3130-3132)ttC>ttA	p.F1044L	KIF21A_ENST00000395670.3_Missense_Mutation_p.F1044L|KIF21A_ENST00000544797.2_Missense_Mutation_p.F1031L|KIF21A_ENST00000361961.3_Missense_Mutation_p.F1031L|KIF21A_ENST00000541463.2_Missense_Mutation_p.F1008L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1044					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCATTGACAGGAAGTGATCTA	0.368																																																	0			12											185.0	165.0	172.0					12																	39725513		2203	4300	6503	38011780	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3132C>A	12.37:g.39725513G>T	ENSP00000354878:p.Phe1044Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38011780	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.83|15.83	2.949172|2.949172	0.53186|0.53186	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000551066|ENST00000552961	D;D;D;D;D;D;D|.	0.88741|.	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42|.	6.07|6.07	3.95|3.95	0.45737|0.45737	Prefoldin (1);|.	0.000000|.	0.56097|.	D|.	0.000028|.	T|T	0.52075|0.52075	0.1712|0.1712	L|L	0.31926|0.31926	0.97|0.97	0.49389|0.49389	D|D	0.999781|0.999781	B;B;B;B;B;B|.	0.30914|.	0.025;0.025;0.118;0.3;0.042;0.088|.	B;B;B;B;B;B|.	0.35182|.	0.022;0.022;0.1;0.197;0.057;0.047|.	T|T	0.46911|0.46911	-0.9157|-0.9157	10|5	0.13108|.	T|.	0.6|.	.|.	11.1785|11.1785	0.48614|0.48614	0.2143:0.0:0.7857:0.0|0.2143:0.0:0.7857:0.0	.|.	1031;1008;1044;1031;1044;98|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	L|Y	1031;1044;1044;98;92;1031;1044;1008;65|392	ENSP00000354851:F1031L;ENSP00000379029:F1044L;ENSP00000448792:F92L;ENSP00000445606:F1031L;ENSP00000354878:F1044L;ENSP00000438075:F1008L;ENSP00000447070:F65L|.	ENSP00000344501:F1044L|.	F|S	-|-	3|2	2|0	KIF21A|KIF21A	38011780|38011780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.323000|2.323000	0.43823|0.43823	1.583000|1.583000	0.49898|0.49898	0.655000|0.655000	0.94253|0.94253	TTC|TCC		KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
NELL2	4753	hgsc.bcm.edu	37	12	45001003	45001003	+	Missense_Mutation	SNP	C	C	T	rs562088318		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:45001003C>T	ENST00000429094.2	-	15	2116	c.1612G>A	c.(1612-1614)Gct>Act	p.A538T	NELL2_ENST00000549027.1_Missense_Mutation_p.A537T|NELL2_ENST00000395487.2_Missense_Mutation_p.A537T|NELL2_ENST00000551601.1_Missense_Mutation_p.A537T|NELL2_ENST00000452445.2_Missense_Mutation_p.A538T|NELL2_ENST00000333837.4_Missense_Mutation_p.A561T|NELL2_ENST00000437801.2_Missense_Mutation_p.A588T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	538	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CACACATTAGCGGCAATACAG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17274	0.001		0.0	False		,,,				2504	0.0																0			12											88.0	83.0	85.0					12																	45001003		2203	4299	6502	43287270	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1612G>A	12.37:g.45001003C>T	ENSP00000390680:p.Ala538Thr	Somatic		Capture	Illumina HiSeq	Phase_I	43287270	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276529	0.59758	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	D;D;D;D;D;D;D	0.91631	-2.24;-2.24;-2.88;-2.24;-2.24;-2.42;-2.24	5.68	3.6	0.41247	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.110795	0.64402	D	0.000004	T	0.76926	0.4056	N	0.04355	-0.22	0.32615	N	0.524155	B;B;B;B;B	0.31680	0.004;0.327;0.335;0.226;0.318	B;B;B;B;B	0.25614	0.001;0.048;0.062;0.017;0.03	T	0.76769	-0.2837	10	0.46703	T	0.11	-11.6453	3.6592	0.08232	0.2587:0.5386:0.1151:0.0876	.	561;588;537;538;537	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	T	537;538;537;538;537;561;588;537	ENSP00000378866:A537T;ENSP00000390680:A538T;ENSP00000449332:A537T;ENSP00000394612:A538T;ENSP00000447927:A537T;ENSP00000327988:A561T;ENSP00000416341:A588T	ENSP00000327988:A561T	A	-	1	0	NELL2	43287270	1.000000	0.71417	0.937000	0.37676	0.985000	0.73830	4.799000	0.62517	1.543000	0.49345	0.655000	0.94253	GCT		NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
SLC16A7	9194	hgsc.bcm.edu	37	12	60168872	60168872	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:60168872A>T	ENST00000261187.4	+	4	960	c.796A>T	c.(796-798)Ata>Tta	p.I266L	SLC16A7_ENST00000552024.1_Missense_Mutation_p.I266L|SLC16A7_ENST00000547379.1_Missense_Mutation_p.I266L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.I266L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.I167L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	266					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TGCCCCCATTATATTCTTGGC	0.368																																																	0			12											87.0	85.0	85.0					12																	60168872		2203	4300	6503	58455139	SO:0001583	missense	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.796A>T	12.37:g.60168872A>T	ENSP00000261187:p.Ile266Leu	Somatic		Capture	Illumina HiSeq	Phase_I	58455139	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.623707	0.66901	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.76	3.06	0.35304	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100345	0.64402	N	0.000002	T	0.32556	0.0833	L	0.31526	0.94	0.40197	D	0.977473	B	0.16166	0.016	B	0.24006	0.05	T	0.12811	-1.0533	9	.	.	.	.	1.5612	0.02595	0.4732:0.0:0.2456:0.2811	.	266	O60669	MOT2_HUMAN	L	266;266;266;266;266;167	ENSP00000449547:I266L;ENSP00000448071:I266L;ENSP00000448742:I266L;ENSP00000446722:I266L;ENSP00000261187:I266L;ENSP00000443731:I167L	.	I	+	1	0	SLC16A7	58455139	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	6.468000	0.73551	1.057000	0.40506	0.528000	0.53228	ATA		SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
XPOT	11260	hgsc.bcm.edu	37	12	64814260	64814260	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:64814260T>C	ENST00000332707.5	+	8	1331	c.802T>C	c.(802-804)Tgt>Cgt	p.C268R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	268	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GGAATCTTTGTGTCAAGTATT	0.343																																																	0			12											103.0	108.0	106.0					12																	64814260		2203	4299	6502	63100527	SO:0001583	missense	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.802T>C	12.37:g.64814260T>C	ENSP00000327821:p.Cys268Arg	Somatic		Capture	Illumina HiSeq	Phase_I	63100527	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407072	0.42715	.	.	ENSG00000184575	ENST00000332707	T	0.21361	2.01	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	L	0.36672	1.1	0.80722	D	1	B	0.24186	0.099	B	0.14578	0.011	T	0.04509	-1.0946	9	.	.	.	.	15.2127	0.73238	0.0:0.0:0.0:1.0	.	268	O43592	XPOT_HUMAN	R	268	ENSP00000327821:C268R	.	C	+	1	0	XPOT	63100527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.983000	0.70540	2.140000	0.66376	0.533000	0.62120	TGT		XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
MGAT4C	25834	hgsc.bcm.edu	37	12	86373589	86373589	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:86373589T>C	ENST00000604798.1	-	8	2119	c.915A>G	c.(913-915)aaA>aaG	p.K305K	MGAT4C_ENST00000393205.2_Silent_p.K334K|MGAT4C_ENST00000552808.2_Silent_p.K305K|MGAT4C_ENST00000332156.1_Silent_p.K305K|MGAT4C_ENST00000548651.1_Silent_p.K305K|MGAT4C_ENST00000549405.2_Silent_p.K305K|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	305					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGAGAGATGGTTTAAAACGGA	0.383																																																	0			12											84.0	81.0	82.0					12																	86373589		2203	4300	6503	84897720	SO:0001819	synonymous_variant	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.915A>G	12.37:g.86373589T>C		Somatic		Capture	Illumina HiSeq	Phase_I	84897720	B4DRH2|Q4G199|Q9UIU5	Silent	SNP	ENST00000604798.1	37	CCDS9030.1																																																																																				MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
STAB2	55576	hgsc.bcm.edu	37	12	104086631	104086631	+	Silent	SNP	C	C	T	rs703651	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:104086631C>T	ENST00000388887.2	+	31	3543	c.3339C>T	c.(3337-3339)aaC>aaT	p.N1113N		NM_017564.9	NP_060034.9			stabilin 2									p.N1113N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGGGGACAACGCAGCCACAA	0.448													C|||	2343	0.467851	0.4463	0.4092	5008	,	,		18770	0.5585		0.4632	False		,,,				2504	0.4499																1	Substitution - coding silent(1)	stomach(1)	12						C		1941,2465	550.9+/-378.2	420,1101,682	164.0	139.0	147.0		3339	-9.7	0.0	12	dbSNP_86	147	3825,4775	536.4+/-383.0	839,2147,1314	no	coding-synonymous	STAB2	NM_017564.9		1259,3248,1996	TT,TC,CC		44.4767,44.0536,44.3334		1113/2552	104086631	5766,7240	2203	4300	6503	102610761	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3339C>T	12.37:g.104086631C>T		Somatic		Capture	Illumina HiSeq	Phase_I	102610761		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
WSCD2	9671	hgsc.bcm.edu	37	12	108641832	108641832	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:108641832G>C	ENST00000332082.4	+	10	2228	c.1410G>C	c.(1408-1410)aaG>aaC	p.K470N	WSCD2_ENST00000549903.1_Missense_Mutation_p.K490N|WSCD2_ENST00000261400.3_Missense_Mutation_p.K490N|WSCD2_ENST00000547525.1_Missense_Mutation_p.K470N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	470						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCTCAAGTTTGGCAAGA	0.597																																																	0			12											71.0	76.0	74.0					12																	108641832		2080	4235	6315	107165962	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1410G>C	12.37:g.108641832G>C	ENSP00000331933:p.Lys470Asn	Somatic		Capture	Illumina HiSeq	Phase_I	107165962	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	9.612	1.131551	0.21041	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.34275	1.37;4.62;1.37;4.62	4.46	2.61	0.31194	.	0.552872	0.17873	N	0.159110	T	0.31606	0.0802	M	0.66939	2.045	0.45172	D	0.998182	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.21965	-1.0230	10	0.51188	T	0.08	-20.9567	3.9791	0.09487	0.2929:0.1987:0.5085:0.0	.	490;470	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	N	470;490;470;490	ENSP00000448047:K470N;ENSP00000261400:K490N;ENSP00000331933:K470N;ENSP00000447272:K490N	ENSP00000261400:K490N	K	+	3	2	WSCD2	107165962	0.961000	0.32948	0.986000	0.45419	0.681000	0.39784	0.104000	0.15313	0.870000	0.35726	-0.137000	0.14449	AAG		WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
NAA25	80018	hgsc.bcm.edu	37	12	112516491	112516491	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:112516491C>T	ENST00000261745.4	-	6	780	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	178						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCATTCTCTCAGCAAGGGGC	0.378																																																	0			12											168.0	153.0	158.0					12																	112516491		2203	4300	6503	111000874	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.532G>A	12.37:g.112516491C>T	ENSP00000261745:p.Glu178Lys	Somatic		Capture	Illumina HiSeq	Phase_I	111000874	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958107	0.97145	.	.	ENSG00000111300	ENST00000261745	T	0.37752	1.18	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.56318	-0.7999	10	0.24483	T	0.36	-16.5813	20.6013	0.99457	0.0:1.0:0.0:0.0	.	178;178	A8K8X0;Q14CX7	.;NAA25_HUMAN	K	178	ENSP00000261745:E178K	ENSP00000261745:E178K	E	-	1	0	NAA25	111000874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.251000	0.78297	2.878000	0.98634	0.650000	0.86243	GAG		NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
DNAH10	196385	hgsc.bcm.edu	37	12	124398918	124398918	+	Silent	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:124398918G>A	ENST00000409039.3	+	60	10066	c.10041G>A	c.(10039-10041)aaG>aaA	p.K3347K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3347					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCGCGTGAAGCTGCTGGGGG	0.602																																																	0			12											53.0	59.0	57.0					12																	124398918		2065	4217	6282	122964871	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10041G>A	12.37:g.124398918G>A		Somatic		Capture	Illumina HiSeq	Phase_I	122964871	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	6.575	0.474401	0.12521	.	.	ENSG00000197653	ENST00000540041	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	T	0.74726	0.3754	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73739	-0.3888	4	.	.	.	.	18.9088	0.92474	0.0:0.0:1.0:0.0	.	.	.	.	N	275	.	.	S	+	2	0	DNAH10	122964871	1.000000	0.71417	0.951000	0.38953	0.501000	0.33797	2.641000	0.46587	2.449000	0.82847	0.561000	0.74099	AGC		DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
SLC15A4	121260	hgsc.bcm.edu	37	12	129299456	129299456	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:129299456C>T	ENST00000266771.5	-	2	745	c.706G>A	c.(706-708)Gct>Act	p.A236T	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	236					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		ACCACAAAAGCAAGGCCGACG	0.522																																																	0			12											186.0	169.0	175.0					12																	129299456		2203	4300	6503	127865409	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.706G>A	12.37:g.129299456C>T	ENSP00000266771:p.Ala236Thr	Somatic		Capture	Illumina HiSeq	Phase_I	127865409	A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351294	0.61183	.	.	ENSG00000139370	ENST00000266771	T	0.06528	3.29	5.79	2.76	0.32466	Major facilitator superfamily domain, general substrate transporter (1);	0.162084	0.56097	D	0.000030	T	0.15696	0.0378	L	0.53561	1.675	0.80722	D	1	P	0.50272	0.933	P	0.57057	0.812	T	0.00775	-1.1571	10	0.72032	D	0.01	.	13.5672	0.61826	0.6397:0.3603:0.0:0.0	.	236	Q8N697	S15A4_HUMAN	T	236	ENSP00000266771:A236T	ENSP00000266771:A236T	A	-	1	0	SLC15A4	127865409	0.992000	0.36948	0.014000	0.15608	0.083000	0.17756	3.077000	0.50089	0.748000	0.32831	0.655000	0.94253	GCT		SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648	
MAGEL2	54551	hgsc.bcm.edu	37	15	23890617	23890617	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:23890617G>A	ENST00000532292.1	-	1	558	c.464C>T	c.(463-465)gCt>gTt	p.A155V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	38					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCCTTGGGAGCACAGAAGGT	0.597																																																	0			15											38.0	42.0	40.0					15																	23890617		1990	4162	6152	21441710	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.464C>T	15.37:g.23890617G>A	ENSP00000433433:p.Ala155Val	Somatic		Capture	Illumina HiSeq	Phase_I	21441710		Missense_Mutation	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	G	14.93	2.682514	0.47991	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.08	3.14	0.36123	.	.	.	.	.	T	0.31451	0.0797	N	0.19112	0.55	0.18873	N	0.999988	.	.	.	.	.	.	T	0.19321	-1.0309	5	.	.	.	.	11.9757	0.53089	0.0:0.1771:0.8229:0.0	.	.	.	.	F	187	.	.	L	-	1	0	MAGEL2	21441710	0.016000	0.18221	0.067000	0.19924	0.991000	0.79684	1.589000	0.36644	1.253000	0.44018	0.655000	0.94253	CTC		MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
HERC2	8924	hgsc.bcm.edu	37	15	28422162	28422162	+	Silent	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:28422162G>A	ENST00000261609.7	-	61	9474	c.9366C>T	c.(9364-9366)acC>acT	p.T3122T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGAGGCCCCAGGTGTACAGTT	0.557																																																	0			15											56.0	53.0	54.0					15																	28422162		2203	4300	6503	26095757	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9366C>T	15.37:g.28422162G>A		Somatic		Capture	Illumina HiSeq	Phase_I	26095757		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
RYR3	6263	hgsc.bcm.edu	37	15	34134166	34134166	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:34134166A>T	ENST00000389232.4	+	91	13209	c.13139A>T	c.(13138-13140)aAg>aTg	p.K4380M	RYR3_ENST00000415757.3_Missense_Mutation_p.K4375M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4380					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)		TGTGGTCAGAAGGTTGAGAAG	0.463																																																	0			15											57.0	66.0	63.0					15																	34134166		1886	4103	5989	31921458	SO:0001583	missense	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.13139A>T	15.37:g.34134166A>T	ENSP00000373884:p.Lys4380Met	Somatic		Capture	Illumina HiSeq	Phase_I	31921458	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623094	0.46840	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94613	-3.47	5.28	2.94	0.34122	Ryanodine Receptor TM 4-6 (1);	0.453943	0.23791	N	0.044531	D	0.94735	0.8301	L	0.46157	1.445	0.28144	N	0.929683	P;D	0.67145	0.547;0.996	B;D	0.67382	0.323;0.951	D	0.88996	0.3418	10	0.62326	D	0.03	.	8.637	0.33955	0.8483:0.0:0.1517:0.0	.	4375;4380	Q15413-2;Q15413	.;RYR3_HUMAN	M	4380;4376	ENSP00000373884:K4380M	ENSP00000354735:K4376M	K	+	2	0	RYR3	31921458	0.848000	0.29623	0.928000	0.36995	0.542000	0.35054	1.378000	0.34328	1.035000	0.39972	0.533000	0.62120	AAG		RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
UNC13C	440279	hgsc.bcm.edu	37	15	54307060	54307060	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:54307060C>G	ENST00000260323.11	+	1	1960	c.1960C>G	c.(1960-1962)Ctt>Gtt	p.L654V	UNC13C_ENST00000537900.1_Missense_Mutation_p.L654V|UNC13C_ENST00000545554.1_Missense_Mutation_p.L654V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	654					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACATGAGGATCTTTCTCCATG	0.423																																																	0			15											126.0	124.0	125.0					15																	54307060		2001	4171	6172	52094352	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1960C>G	15.37:g.54307060C>G	ENSP00000260323:p.Leu654Val	Somatic		Capture	Illumina HiSeq	Phase_I	52094352	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781830	0.16120	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83250	-1.7;-1.7;-1.7	5.26	4.34	0.51931	.	.	.	.	.	T	0.68632	0.3022	N	0.24115	0.695	0.26055	N	0.981434	B	0.34372	0.451	B	0.28139	0.086	T	0.59847	-0.7377	9	0.40728	T	0.16	.	7.0008	0.24809	0.0:0.7015:0.1504:0.1481	.	654	Q8NB66	UN13C_HUMAN	V	654	ENSP00000260323:L654V;ENSP00000438156:L654V;ENSP00000442569:L654V	ENSP00000260323:L654V	L	+	1	0	UNC13C	52094352	0.868000	0.29978	1.000000	0.80357	0.995000	0.86356	1.472000	0.35376	1.435000	0.47434	0.650000	0.86243	CTT		UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
HERC1	8925	hgsc.bcm.edu	37	15	64041865	64041865	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:64041865A>G	ENST00000443617.2	-	9	2115	c.2028T>C	c.(2026-2028)caT>caC	p.H676H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	676					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGCCAAACAATGACTGTCTC	0.348																																																	0			15											50.0	45.0	47.0					15																	64041865		1850	4093	5943	61828918	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2028T>C	15.37:g.64041865A>G		Somatic		Capture	Illumina HiSeq	Phase_I	61828918	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
SCAPER	49855	hgsc.bcm.edu	37	15	77134175	77134175	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:77134175A>C	ENST00000563290.1	-	5	388	c.293T>G	c.(292-294)cTa>cGa	p.L98R	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.L98R			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	98						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCGAGCTCTTAGATCAATTTT	0.408																																																	0			15											150.0	139.0	142.0					15																	77134175		1821	4066	5887	74921230	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.293T>G	15.37:g.77134175A>C	ENSP00000454973:p.Leu98Arg	Somatic		Capture	Illumina HiSeq	Phase_I	74921230	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485088	0.84854	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.30448	1.53	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000004	T	0.56906	0.2017	M	0.76838	2.35	0.50813	D	0.999893	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.996	T	0.63225	-0.6685	10	0.87932	D	0	.	14.6001	0.68435	1.0:0.0:0.0:0.0	.	98;113	Q6NSF1;Q9BY12-2	.;.	R	98;114	ENSP00000326924:L98R	ENSP00000303560:L114R	L	-	2	0	SCAPER	74921230	1.000000	0.71417	0.795000	0.32087	0.932000	0.56968	8.962000	0.93254	1.869000	0.54173	0.533000	0.62120	CTA		SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
AGBL1	123624	hgsc.bcm.edu	37	15	86814931	86814931	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:86814931A>G	ENST00000441037.2	+	14	2026	c.1931A>G	c.(1930-1932)tAt>tGt	p.Y644C	AGBL1_ENST00000389298.3_Missense_Mutation_p.Y375C|AGBL1_ENST00000421325.2_Missense_Mutation_p.Y644C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	644					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAAATATGTTATTACAAGTAA	0.408																																																	0			15											150.0	150.0	150.0					15																	86814931		1872	4096	5968	84615935	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1931A>G	15.37:g.86814931A>G	ENSP00000413001:p.Tyr644Cys	Somatic		Capture	Illumina HiSeq	Phase_I	84615935	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351523	0.41700	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.17213	2.29;2.3	5.21	5.21	0.72293	.	0.140827	0.48286	D	0.000183	T	0.56615	0.1997	H	0.96970	3.915	0.50632	D	0.999881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.72623	-0.4237	10	0.87932	D	0	-22.5567	14.566	0.68176	1.0:0.0:0.0:0.0	.	343;375;644	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	C	673;644;375	ENSP00000397173:Y644C;ENSP00000373949:Y375C	ENSP00000373949:Y375C	Y	+	2	0	AGBL1	84615935	1.000000	0.71417	0.396000	0.26296	0.027000	0.11550	8.640000	0.91028	2.100000	0.63781	0.528000	0.53228	TAT		AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
NR2F2	7026	hgsc.bcm.edu	37	15	96877377	96877377	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:96877377T>C	ENST00000394166.3	+	2	1904	c.515T>C	c.(514-516)cTc>cCc	p.L172P	NR2F2_ENST00000421109.2_Missense_Mutation_p.L39P|NR2F2_ENST00000453270.2_Missense_Mutation_p.L19P|NR2F2_ENST00000394171.2_Missense_Mutation_p.L19P|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	172	Interaction with ZFPM2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGGGATCCCCTCAACTGCCAC	0.647																																																	0			15											123.0	118.0	120.0					15																	96877377		2197	4298	6495	94678381	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.515T>C	15.37:g.96877377T>C	ENSP00000377721:p.Leu172Pro	Somatic		Capture	Illumina HiSeq	Phase_I	94678381	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643970	0.67244	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.94232	-3.38;-3.38;-3.33;-3.33	5.0	5.0	0.66597	Nuclear hormone receptor, ligand-binding (2);	0.068791	0.64402	D	0.000015	D	0.91855	0.7422	M	0.62723	1.935	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15484	0.013;0.005	D	0.89500	0.3763	10	0.59425	D	0.04	.	14.6933	0.69101	0.0:0.0:0.0:1.0	.	172;39	P24468;Q3KQR7	COT2_HUMAN;.	P	39;172;19;19	ENSP00000401674:L39P;ENSP00000377721:L172P;ENSP00000377726:L19P;ENSP00000389853:L19P	ENSP00000377721:L172P	L	+	2	0	NR2F2	94678381	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.968000	0.87980	1.878000	0.54408	0.459000	0.35465	CTC		NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1		
TARSL2	123283	hgsc.bcm.edu	37	15	102249040	102249040	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr15:102249040C>T	ENST00000335968.3	-	6	1102	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	296					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTAGTCTTTCAAAAGGTTGC	0.378																																																	0			15											131.0	127.0	128.0					15																	102249040		2203	4300	6503	100066563	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.886G>A	15.37:g.102249040C>T	ENSP00000338093:p.Glu296Lys	Somatic		Capture	Illumina HiSeq	Phase_I	100066563	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965373	0.92855	.	.	ENSG00000185418	ENST00000335968;ENST00000539112	T;T	0.12569	2.67;2.67	5.38	4.46	0.54185	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.85462	2.755	0.80722	D	1	D	0.56968	0.978	P	0.53006	0.715	T	0.17745	-1.0359	10	0.62326	D	0.03	-22.8991	11.622	0.51124	0.0:0.9136:0.0:0.0864	.	296	A2RTX5	SYTC2_HUMAN	K	296	ENSP00000338093:E296K;ENSP00000439899:E296K	ENSP00000338093:E296K	E	-	1	0	TARSL2	100066563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.532000	0.81985	1.246000	0.43901	0.655000	0.94253	GAA		TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
PHKA2	5256	hgsc.bcm.edu	37	X	19002035	19002035	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:19002035T>G	ENST00000379942.4	-	1	681	c.16A>C	c.(16-18)Aat>Cat	p.N6H		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	6					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACCCCGGAATTGCTCCTGCTC	0.692																																																	0			X											67.0	56.0	60.0					X																	19002035		2203	4300	6503	18911956	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.16A>C	X.37:g.19002035T>G	ENSP00000369274:p.Asn6His	Somatic		Capture	Illumina HiSeq	Phase_I	18911956	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804453	0.90623	.	.	ENSG00000044446	ENST00000379942	D	0.91740	-2.9	4.82	4.82	0.62117	Six-hairpin glycosidase-like (1);	0.215520	0.53938	D	0.000042	D	0.93213	0.7838	M	0.80847	2.515	0.52099	D	0.999949	P	0.43885	0.82	P	0.47470	0.548	D	0.93693	0.7009	10	0.72032	D	0.01	-15.3368	11.4302	0.50036	0.0:0.0:0.0:1.0	.	6	P46019	KPB2_HUMAN	H	6	ENSP00000369274:N6H	ENSP00000369274:N6H	N	-	1	0	PHKA2	18911956	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.844000	0.62846	1.908000	0.55244	0.441000	0.28932	AAT		PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
TAB3	257397	hgsc.bcm.edu	37	X	30877657	30877657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:30877657G>A	ENST00000378933.1	-	2	226	c.49C>T	c.(49-51)Cga>Tga	p.R17*	TAB3_ENST00000288422.2_Nonsense_Mutation_p.R17*|TAB3_ENST00000378932.2_Nonsense_Mutation_p.R17*|TAB3_ENST00000378930.3_Nonsense_Mutation_p.R17*	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	17	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						AAACGTTGTCGAAGATCATGG	0.453																																					Pancreas(164;1598 1985 29022 43301 49529)												0			X											98.0	76.0	84.0					X																	30877657		2202	4300	6502	30787578	SO:0001587	stop_gained	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.49C>T	X.37:g.30877657G>A	ENSP00000368215:p.Arg17*	Somatic		Capture	Illumina HiSeq	Phase_I	30787578	A6NDD9|Q6VQR0	Nonsense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	42	9.311963	0.99133	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	.	.	.	5.36	5.36	0.76844	.	0.118609	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8473	18.178	0.89767	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000288422:R17X	R	-	1	2	TAB3	30787578	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.046000	0.76592	2.229000	0.72834	0.506000	0.49869	CGA		TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	
CXorf30	645090	hgsc.bcm.edu	37	X	36337369	36337369	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:36337369G>A	ENST00000378657.4	+	11	1376	c.728G>A	c.(727-729)aGc>aAc	p.S243N		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	243										breast(1)|lung(2)|stomach(1)	4						TGCTGGGATAGCTTCATCTAT	0.358																																																	0			X											222.0	165.0	182.0					X																	36337369		692	1591	2283	36247290	SO:0001583	missense	645090				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.728G>A	X.37:g.36337369G>A	ENSP00000367926:p.Ser243Asn	Somatic		Capture	Illumina HiSeq	Phase_I	36247290		Missense_Mutation	SNP	ENST00000378657.4	37	CCDS55396.1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271251	0.10349	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.22945	1.93;1.93	4.32	-0.62	0.11567	.	0.747954	0.11931	N	0.515742	T	0.07143	0.0181	N	0.02011	-0.69	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.38950	-0.9637	10	0.11182	T	0.66	-0.1956	4.0115	0.09624	0.4574:0.1827:0.3599:0.0	.	243	A6PW82	CX030_HUMAN	N	528;243	ENSP00000367922:S528N;ENSP00000367926:S243N	ENSP00000367922:S528N	S	+	2	0	CXorf30	36247290	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.346000	0.07760	-0.161000	0.10983	-0.190000	0.12839	AGC		CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NP_001092313	
CASK	8573	hgsc.bcm.edu	37	X	41446234	41446234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:41446234C>A	ENST00000378163.1	-	14	1714	c.1240G>T	c.(1240-1242)Gaa>Taa	p.E414*	CASK_ENST00000442742.2_Nonsense_Mutation_p.E414*|CASK_ENST00000361962.4_Nonsense_Mutation_p.E414*|CASK_ENST00000378154.1_Nonsense_Mutation_p.E414*|CASK_ENST00000378166.4_Nonsense_Mutation_p.E414*|CASK_ENST00000378158.1_Nonsense_Mutation_p.E414*|CASK_ENST00000318588.9_Nonsense_Mutation_p.E414*|CASK_ENST00000421587.2_Nonsense_Mutation_p.E408*			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	414	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.E414*(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GAAATTTCTTCCAATACCTAA	0.264																																					NSCLC(42;104 1086 3090 27189 35040)												1	Substitution - Nonsense(1)	ovary(1)	X											75.0	68.0	70.0					X																	41446234		2202	4294	6496	41331178	SO:0001587	stop_gained	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1240G>T	X.37:g.41446234C>A	ENSP00000367405:p.Glu414*	Somatic		Capture	Illumina HiSeq	Phase_I	41331178	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Nonsense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	C	39	7.620493	0.98393	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	.	.	.	5.33	5.33	0.75918	.	0.000000	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.0832	0.89449	0.0:1.0:0.0:0.0	.	.	.	.	X	408;414;414;414;29;414;414;414;414	.	ENSP00000322727:E414X	E	-	1	0	CASK	41331178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.408000	0.80041	2.206000	0.71126	0.506000	0.49869	GAA		CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	
AR	367	hgsc.bcm.edu	37	X	66765576	66765576	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:66765576A>C	ENST00000374690.3	+	1	1112	c.588A>C	c.(586-588)caA>caC	p.Q196H	AR_ENST00000396044.3_Missense_Mutation_p.Q196H|AR_ENST00000504326.1_Missense_Mutation_p.Q196H|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	194	Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TCCTTCAGCAACAGCAGCAGG	0.607									Androgen Insensitivity Syndrome																																								0			X											26.0	26.0	26.0					X																	66765576		2203	4300	6503	66682301	SO:0001583	missense	374	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.588A>C	X.37:g.66765576A>C	ENSP00000363822:p.Gln196His	Somatic		Capture	Illumina HiSeq	Phase_I	66682301	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.95	2.092505	0.36952	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.78481	-1.18;-1.18;-1.18	5.04	-0.138	0.13464	.	0.180204	0.37857	N	0.001902	T	0.72827	0.3509	L	0.57130	1.785	0.26175	N	0.979816	B;B;B	0.25272	0.067;0.106;0.122	B;B;B	0.35813	0.092;0.211;0.069	T	0.65170	-0.6233	10	0.54805	T	0.06	.	7.738	0.28825	0.6116:0.0:0.3884:0.0	.	196;196;194	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	H	6;196;196;196;188	ENSP00000363822:Q196H;ENSP00000421155:Q196H;ENSP00000379359:Q196H	ENSP00000363822:Q196H	Q	+	3	2	AR	66682301	0.967000	0.33354	0.864000	0.33941	0.971000	0.66376	-0.113000	0.10774	-0.394000	0.07727	0.414000	0.27820	CAA		AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
EDA	1896	hgsc.bcm.edu	37	X	69176977	69176977	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:69176977C>T	ENST00000374552.4	+	2	739	c.497C>T	c.(496-498)gCa>gTa	p.A166V	EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Missense_Mutation_p.A166V|EDA_ENST00000374553.2_Missense_Mutation_p.A166V	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	166					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.A166E(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						AATGAAGGAGCAGATGGTAAG	0.398																																																	2	Substitution - Missense(2)	kidney(2)	X											121.0	114.0	117.0					X																	69176977		2203	4300	6503	69093702	SO:0001583	missense	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.497C>T	X.37:g.69176977C>T	ENSP00000363680:p.Ala166Val	Somatic		Capture	Illumina HiSeq	Phase_I	69093702	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467275	0.43839	.	.	ENSG00000158813	ENST00000513754;ENST00000374552;ENST00000374553;ENST00000524573;ENST00000503592	T;T;T;D	0.91792	-0.55;-0.55;-0.55;-2.91	4.85	4.85	0.62838	.	0.629040	0.15696	N	0.249183	D	0.84019	0.5380	N	0.08118	0	0.80722	D	1	B;B;B	0.22851	0.062;0.076;0.062	B;B;B	0.28011	0.051;0.085;0.051	T	0.80279	-0.1449	10	0.42905	T	0.14	-0.3066	12.2378	0.54526	0.0:1.0:0.0:0.0	.	166;166;166	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	V	166;166;166;166;34	ENSP00000363680:A166V;ENSP00000363681:A166V;ENSP00000432585:A166V;ENSP00000423037:A34V	ENSP00000363680:A166V	A	+	2	0	EDA	69093702	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.515000	0.45512	2.378000	0.81104	0.594000	0.82650	GCA		EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399	
POU3F4	5456	hgsc.bcm.edu	37	X	82764016	82764016	+	Silent	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:82764016G>A	ENST00000373200.2	+	1	748	c.684G>A	c.(682-684)tcG>tcA	p.S228S	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	228	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ACGTGTTCTCGCAGACCACCA	0.527																																																	0			X											81.0	62.0	68.0					X																	82764016		2203	4300	6503	82650672	SO:0001819	synonymous_variant	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.684G>A	X.37:g.82764016G>A		Somatic		Capture	Illumina HiSeq	Phase_I	82650672	B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	CCDS14450.1																																																																																				POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307	
NRK	203447	hgsc.bcm.edu	37	X	105190320	105190320	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:105190320T>A	ENST00000243300.9	+	26	4520	c.4217T>A	c.(4216-4218)cTt>cAt	p.L1406H	NRK_ENST00000540278.1_5'Flank|NRK_ENST00000428173.2_Missense_Mutation_p.L1407H	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1406	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCCAACACTTGATCATAAG	0.378										HNSCC(51;0.14)																																							0			X											64.0	54.0	57.0					X																	105190320		1839	4080	5919	105076976	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4217T>A	X.37:g.105190320T>A	ENSP00000434830:p.Leu1406His	Somatic		Capture	Illumina HiSeq	Phase_I	105076976	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	T	12.45	1.942487	0.34283	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.06449	3.3;3.3	5.98	2.21	0.28008	Citron-like (2);	3.348890	0.00861	N	0.001928	T	0.06917	0.0176	L	0.29908	0.895	0.80722	D	1	B	0.17038	0.02	B	0.19946	0.027	T	0.28073	-1.0055	10	0.87932	D	0	.	3.6777	0.08298	0.1327:0.0727:0.1355:0.6591	.	1406	Q7Z2Y5	NRK_HUMAN	H	1406;1407	ENSP00000434830:L1406H;ENSP00000438378:L1407H	ENSP00000434830:L1406H	L	+	2	0	NRK	105076976	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	1.748000	0.38308	0.026000	0.15269	0.486000	0.48141	CTT		NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
GPR101	83550	hgsc.bcm.edu	37	X	136113264	136113265	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:136113264_136113265GG>CA	ENST00000298110.1	-	1	568_569	c.569_570CC>TG	c.(568-570)cCC>cTG	p.P190L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGTGTAGCTGGGGCTGGCCCC	0.579																																																	0			X																																								135940930|135940931	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.569_570delinsCA	X.37:g.136113264_136113265delinsCA	ENSP00000298110:p.Pro190Leu	Somatic		Capture	Illumina HiSeq	Phase_I	135940930|135940931	Q5JSM8|Q8NG93	Silent|Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1																																																																																				GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
F9	2158	hgsc.bcm.edu	37	X	138623283	138623283	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:138623283A>G	ENST00000218099.2	+	4	333	c.326A>G	c.(325-327)aAg>aGg	p.K109R	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	109	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GGCAGTTGCAAGGATGACATT	0.373																																																	0			X											219.0	175.0	190.0					X																	138623283		2203	4300	6503	138450949	SO:0001583	missense	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.326A>G	X.37:g.138623283A>G	ENSP00000218099:p.Lys109Arg	Somatic		Capture	Illumina HiSeq	Phase_I	138450949	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053995	0.55218	.	.	ENSG00000101981	ENST00000218099	D	0.91843	-2.92	5.81	4.65	0.58169	Gamma-carboxyglutamic acid-rich (GLA) domain (1);EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.142348	0.64402	N	0.000007	D	0.84488	0.5483	N	0.11818	0.18	0.80722	D	1	P	0.39520	0.676	B	0.41619	0.361	T	0.82293	-0.0529	10	0.46703	T	0.11	.	9.0347	0.36280	0.9123:0.0:0.0877:0.0	.	109	P00740	FA9_HUMAN	R	109	ENSP00000218099:K109R	ENSP00000218099:K109R	K	+	2	0	F9	138450949	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	5.171000	0.64996	0.818000	0.34468	-0.321000	0.08615	AAG		F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
MAGEC1	9947	hgsc.bcm.edu	37	X	140996485	140996485	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:140996485T>A	ENST00000285879.4	+	4	3581	c.3295T>A	c.(3295-3297)Ttt>Att	p.F1099I	MAGEC1_ENST00000406005.2_Missense_Mutation_p.F166I	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1099	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTATTACCTTTCCATCCTC	0.448										HNSCC(15;0.026)																																							0			X											137.0	125.0	129.0					X																	140996485		2203	4300	6503	140824151	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3295T>A	X.37:g.140996485T>A	ENSP00000285879:p.Phe1099Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140824151	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	9.879	1.201140	0.22121	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.08546	3.93;3.08	1.06	1.06	0.20224	.	.	.	.	.	T	0.18299	0.0439	M	0.88031	2.925	0.09310	N	1	P	0.48350	0.909	P	0.48704	0.587	T	0.12656	-1.0539	9	0.87932	D	0	.	4.0185	0.09655	0.0:0.0:0.0:1.0	.	1099	O60732	MAGC1_HUMAN	I	1099;166	ENSP00000285879:F1099I;ENSP00000385500:F166I	ENSP00000285879:F1099I	F	+	1	0	MAGEC1	140824151	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	1.390000	0.34464	0.667000	0.31107	0.231000	0.17811	TTT		MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
FLNA	2316	hgsc.bcm.edu	37	X	153588464	153588464	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:153588464G>C	ENST00000369850.3	-	22	3935	c.3699C>G	c.(3697-3699)atC>atG	p.I1233M	FLNA_ENST00000360319.4_Missense_Mutation_p.I1233M|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.I1233M|FLNA_ENST00000422373.1_Missense_Mutation_p.I1233M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1233					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCGTACTTGATGGTGACGG	0.637																																																	0			X											34.0	40.0	38.0					X																	153588464		2052	4152	6204	153241658	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3699C>G	X.37:g.153588464G>C	ENSP00000358866:p.Ile1233Met	Somatic		Capture	Illumina HiSeq	Phase_I	153241658	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	7.353	0.623309	0.14193	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	4.8	4.8	0.61643	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90813	0.7115	L	0.56199	1.76	0.80722	D	1	B;D	0.60575	0.08;0.988	B;D	0.73708	0.053;0.981	D	0.88221	0.2897	10	0.25751	T	0.34	.	7.8035	0.29189	0.0931:0.1748:0.7321:0.0	.	1233;1233	P21333-2;P21333	.;FLNA_HUMAN	M	1233;1206;1233;1233;1233	ENSP00000353467:I1233M;ENSP00000416926:I1233M;ENSP00000358866:I1233M;ENSP00000358863:I1233M	ENSP00000358863:I1233M	I	-	3	3	FLNA	153241658	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	0.819000	0.27308	1.981000	0.57761	0.436000	0.28706	ATC		FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
CRIPAK	285464	hgsc.bcm.edu	37	4	1388817	1388817	+	Missense_Mutation	SNP	C	C	G	rs200606324	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:1388817C>G	ENST00000324803.4	+	1	3478	c.518C>G	c.(517-519)cCa>cGa	p.P173R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGTGGAGTG	0.677													N|||	940	0.1877	0.3328	0.1398	5008	,	,		18475	0.0992		0.0378	False		,,,				2504	0.271																0			4											192.0	130.0	151.0					4																	1388817		2194	4201	6395	1378817	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.518C>G	4.37:g.1388817C>G	ENSP00000323978:p.Pro173Arg	Somatic		Capture	Illumina HiSeq	Phase_I	1378817	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	c	1.909	-0.451230	0.04572	.	.	ENSG00000179979	ENST00000324803	T	0.19250	2.16	1.25	0.276	0.15663	Post-SET domain (1);	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.17369	T	0.5	.	4.4738	0.11726	0.0:0.5796:0.2425:0.1779	.	173	Q8N1N5	CRPAK_HUMAN	R	173	ENSP00000323978:P173R	ENSP00000323978:P173R	P	+	2	0	CRIPAK	1378817	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.368000	0.07543	-0.338000	0.08413	-1.976000	0.00459	CCA		CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
UGT2A3	79799	hgsc.bcm.edu	37	4	69795685	69795685	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:69795685G>A	ENST00000251566.4	-	6	1460	c.1430C>T	c.(1429-1431)gCt>gTt	p.A477V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A188V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	477					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCATGGGCAGCTGATCGCAG	0.483																																																	0			4											83.0	82.0	83.0					4																	69795685		2203	4300	6503	69830274	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1430C>T	4.37:g.69795685G>A	ENSP00000251566:p.Ala477Val	Somatic		Capture	Illumina HiSeq	Phase_I	69830274	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265484	0.23136	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.61627	0.09;0.09	2.22	1.34	0.21922	.	0.267128	0.36482	N	0.002564	T	0.74268	0.3694	M	0.89163	3.01	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63283	-0.6672	10	0.87932	D	0	.	6.3908	0.21585	0.1678:0.0:0.8322:0.0	.	477	Q6UWM9	UD2A3_HUMAN	V	477;188	ENSP00000251566:A477V;ENSP00000440115:A188V	ENSP00000251566:A477V	A	-	2	0	UGT2A3	69830274	0.984000	0.35163	0.001000	0.08648	0.003000	0.03518	5.486000	0.66856	0.267000	0.21916	0.491000	0.48974	GCT		UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
HPSE	10855	hgsc.bcm.edu	37	4	84231914	84231914	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:84231914A>G	ENST00000405413.2	-	6	939	c.803T>C	c.(802-804)gTt>gCt	p.V268A	HPSE_ENST00000513463.1_Missense_Mutation_p.V210A|HPSE_ENST00000512196.1_Missense_Mutation_p.V268A|HPSE_ENST00000311412.5_Missense_Mutation_p.V268A	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	268					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	AGGCTGACCAACATCAGGACC	0.388																																																	0			4											208.0	201.0	203.0					4																	84231914		2203	4300	6503	84450938	SO:0001583	missense	10855			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.803T>C	4.37:g.84231914A>G	ENSP00000384262:p.Val268Ala	Somatic		Capture	Illumina HiSeq	Phase_I	84450938	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848191	0.71603	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.11	5.11	0.69529	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.643383	0.16294	N	0.220767	T	0.49440	0.1557	L	0.56769	1.78	0.40041	D	0.975656	P;P;D	0.56746	0.892;0.95;0.977	B;P;P	0.54270	0.389;0.716;0.747	T	0.49890	-0.8891	10	0.49607	T	0.09	-2.178	14.7198	0.69297	1.0:0.0:0.0:0.0	.	268;210;268	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	A	268;268;268;210	ENSP00000308107:V268A;ENSP00000384262:V268A;ENSP00000423265:V268A;ENSP00000421365:V210A	ENSP00000308107:V268A	V	-	2	0	HPSE	84450938	0.886000	0.30341	0.292000	0.24919	0.927000	0.56198	8.002000	0.88514	2.143000	0.66587	0.477000	0.44152	GTT		HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665	
ADH5	128	hgsc.bcm.edu	37	4	99997944	99997944	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:99997944T>A	ENST00000296412.8	-	5	525	c.475A>T	c.(475-477)Aaa>Taa	p.K159*	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		GGATCTATTTTAGCAACAGAG	0.423																																																	0			4											67.0	61.0	63.0					4																	99997944		1879	4116	5995	100216967	SO:0001587	stop_gained	128			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.475A>T	4.37:g.99997944T>A	ENSP00000296412:p.Lys159*	Somatic		Capture	Illumina HiSeq	Phase_I	100216967		Nonsense_Mutation	SNP	ENST00000296412.8	37	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491381	0.84962	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5959	0.76578	0.0:0.0:0.0:1.0	.	.	.	.	X	159;146	.	.	K	-	1	0	ADH5	100216967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.096000	0.76960	2.277000	0.76020	0.528000	0.53228	AAA		ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671	
NFKB1	4790	hgsc.bcm.edu	37	4	103505914	103505914	+	Silent	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:103505914C>A	ENST00000505458.1	+	11	1277	c.1000C>A	c.(1000-1002)Cgg>Agg	p.R334R	NFKB1_ENST00000394820.4_Silent_p.R334R|NFKB1_ENST00000226574.4_Silent_p.R335R|NFKB1_ENST00000600343.1_Silent_p.R154R			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	334	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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 from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TGTCCAGCTTCGGAGGAAATC	0.358																																																	0			4											63.0	67.0	65.0					4																	103505914		2203	4300	6503	103724952	SO:0001819	synonymous_variant	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1000C>A	4.37:g.103505914C>A		Somatic		Capture	Illumina HiSeq	Phase_I	103724952	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	CCDS54783.1																																																																																				NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
SEC24B	10427	hgsc.bcm.edu	37	4	110384302	110384302	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:110384302G>C	ENST00000265175.5	+	2	434	c.379G>C	c.(379-381)Gtg>Ctg	p.V127L	SEC24B_ENST00000399100.2_Missense_Mutation_p.V127L|SEC24B_ENST00000504968.2_Missense_Mutation_p.V158L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	127					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCCTCATATTGTGGGATCCAC	0.488																																																	0			4											130.0	129.0	129.0					4																	110384302		2015	4195	6210	110603751	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.379G>C	4.37:g.110384302G>C	ENSP00000265175:p.Val127Leu	Somatic		Capture	Illumina HiSeq	Phase_I	110603751	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	3.368	-0.129032	0.06753	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.79141	-1.04;-1.24;-1.2	4.74	-0.541	0.11858	.	1.903560	0.02261	N	0.067560	T	0.61640	0.2363	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.002	B;B;B;B	0.06405	0.0;0.002;0.001;0.001	T	0.43845	-0.9366	10	0.39692	T	0.17	0.7928	1.8654	0.03197	0.2409:0.133:0.4896:0.1365	.	77;158;127;127	B4DTM6;B7ZKM8;O95487-2;O95487	.;.;.;SC24B_HUMAN	L	158;127;127	ENSP00000428564:V158L;ENSP00000382051:V127L;ENSP00000265175:V127L	ENSP00000265175:V127L	V	+	1	0	SEC24B	110603751	0.027000	0.19231	0.000000	0.03702	0.169000	0.22640	0.640000	0.24705	-0.068000	0.12953	0.467000	0.42956	GTG		SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
SYNPO2	171024	hgsc.bcm.edu	37	4	119951306	119951306	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:119951306T>A	ENST00000429713.2	+	4	1558	c.1376T>A	c.(1375-1377)gTt>gAt	p.V459D	SYNPO2_ENST00000307142.4_Missense_Mutation_p.V459D|SYNPO2_ENST00000434046.2_Missense_Mutation_p.V459D|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	459						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AACACACAAGTTGTGAACTTT	0.468																																																	0			4											148.0	147.0	148.0					4																	119951306		2203	4300	6503	120170754	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1376T>A	4.37:g.119951306T>A	ENSP00000395143:p.Val459Asp	Somatic		Capture	Illumina HiSeq	Phase_I	120170754	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.97|18.97	3.735980|3.735980	0.69189|0.69189	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|T;T;T	.|0.12039	.|2.72;2.73;2.72	5.55|5.55	2.93|2.93	0.34026|0.34026	.|.	.|0.405216	.|0.21674	.|N	.|0.070825	T|T	0.24122|0.24122	0.0584|0.0584	L|L	0.47716|0.47716	1.5|1.5	0.36445|0.36445	D|D	0.865715|0.865715	.|D;D;D;D	.|0.71674	.|0.998;0.995;0.996;0.998	.|P;P;P;P	.|0.62014	.|0.897;0.836;0.853;0.897	T|T	0.07195|0.07195	-1.0785|-1.0785	5|10	.|0.72032	.|D	.|0.01	-3.554|-3.554	8.6093|8.6093	0.33793|0.33793	0.0:0.1823:0.0:0.8177|0.0:0.1823:0.0:0.8177	.|.	.|459;459;459;459	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	R|D	410|459	.|ENSP00000306015:V459D;ENSP00000395143:V459D;ENSP00000390965:V459D	.|ENSP00000306015:V459D	S|V	+|+	3|2	2|0	SYNPO2|SYNPO2	120170754|120170754	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.254000|0.254000	0.26022|0.26022	3.246000|3.246000	0.51414|0.51414	0.303000|0.303000	0.22785|0.22785	0.460000|0.460000	0.39030|0.39030	AGT|GTT		SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
SMARCA5	8467	hgsc.bcm.edu	37	4	144461614	144461614	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:144461614G>T	ENST00000283131.3	+	14	2331	c.1869G>T	c.(1867-1869)atG>atT	p.M623I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	623	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTGCTGAGATGAAACTCAGAC	0.388																																																	0			4											84.0	81.0	82.0					4																	144461614		2203	4300	6503	144681064	SO:0001583	missense	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1869G>T	4.37:g.144461614G>T	ENSP00000283131:p.Met623Ile	Somatic		Capture	Illumina HiSeq	Phase_I	144681064		Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162767	0.57368	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.95412	-3.7	5.72	5.72	0.89469	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89203	0.6648	N	0.05078	-0.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84245	0.0474	10	0.15952	T	0.53	-6.8529	19.892	0.96932	0.0:0.0:1.0:0.0	.	623	O60264	SMCA5_HUMAN	I	623;566;566	ENSP00000283131:M623I	ENSP00000283131:M623I	M	+	3	0	SMARCA5	144681064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.917000	0.87498	2.704000	0.92352	0.563000	0.77884	ATG		SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
DCHS2	54798	hgsc.bcm.edu	37	4	155241687	155241687	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:155241687A>G	ENST00000357232.4	-	14	3498	c.3499T>C	c.(3499-3501)Tct>Cct	p.S1167P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1167	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGGGGAAAGAAATAAAAGTG	0.468																																																	0			4											195.0	186.0	189.0					4																	155241687		2203	4300	6503	155461137	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3499T>C	4.37:g.155241687A>G	ENSP00000349768:p.Ser1167Pro	Somatic		Capture	Illumina HiSeq	Phase_I	155461137	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060844	0.76074	.	.	ENSG00000197410	ENST00000357232	T	0.38240	1.15	5.56	5.56	0.83823	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.60314	0.2259	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63853	-0.6543	10	0.66056	D	0.02	.	15.721	0.77710	1.0:0.0:0.0:0.0	.	1167	Q6V1P9	PCD23_HUMAN	P	1167	ENSP00000349768:S1167P	ENSP00000349768:S1167P	S	-	1	0	DCHS2	155461137	1.000000	0.71417	0.076000	0.20297	0.878000	0.50629	5.901000	0.69861	2.117000	0.64856	0.383000	0.25322	TCT		DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DDX60L	91351	hgsc.bcm.edu	37	4	169321988	169321988	+	Silent	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr4:169321988T>A	ENST00000511577.1	-	26	3727	c.3480A>T	c.(3478-3480)acA>acT	p.T1160T	DDX60L_ENST00000505890.1_Silent_p.T1160T|DDX60L_ENST00000260184.7_Silent_p.T1160T			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1160							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCCTTTTCTGTGTCTTCCTCA	0.368																																																	0			4											105.0	99.0	101.0					4																	169321988		1873	4096	5969	169558563	SO:0001819	synonymous_variant	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3480A>T	4.37:g.169321988T>A		Somatic		Capture	Illumina HiSeq	Phase_I	169558563	Q96ND6	Silent	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	T	2.374	-0.343582	0.05243	.	.	ENSG00000181381	ENST00000514580	T	0.40225	1.04	2.69	2.69	0.31865	.	9.491200	0.01873	U	0.037362	T	0.19167	0.0460	.	.	.	0.21652	N	0.999604	.	.	.	.	.	.	T	0.34477	-0.9827	7	0.02654	T	1	.	7.5201	0.27622	0.0:0.0:0.0:1.0	.	.	.	.	S	48	ENSP00000422920:T48S	ENSP00000422920:T48S	T	-	1	0	DDX60L	169558563	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.205000	0.09411	1.185000	0.42971	0.377000	0.23210	ACA		DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
SH3YL1	26751	hgsc.bcm.edu	37	2	231084	231084	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:231084T>C	ENST00000405430.1	-	9	1017	c.641A>G	c.(640-642)tAt>tGt	p.Y214C	SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000403712.2_Missense_Mutation_p.Y214C|SH3YL1_ENST00000403658.1_Missense_Mutation_p.Y118C|SH3YL1_ENST00000403657.1_Missense_Mutation_p.Y118C|SH3YL1_ENST00000415006.2_Missense_Mutation_p.Y118C|SH3YL1_ENST00000356150.5_Missense_Mutation_p.Y214C			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	214					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)	p.Y118C(1)		large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TTCATTTTCATACTTTTCAGT	0.393																																																	1	Substitution - Missense(1)	ovary(1)	2											143.0	136.0	138.0					2																	231084		1881	4100	5981	221084	SO:0001583	missense	26751				CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.641A>G	2.37:g.231084T>C	ENSP00000384269:p.Tyr214Cys	Somatic		Capture	Illumina HiSeq	Phase_I	221084	A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	ENST00000405430.1	37		.	.	.	.	.	.	.	.	.	.	T	15.48	2.846325	0.51164	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005;ENST00000431160	T;T;T;T;T;T;T	0.26067	2.04;2.0;2.02;1.88;1.88;2.02;1.76	5.11	3.93	0.45458	.	0.502845	0.20526	N	0.090610	T	0.36635	0.0974	L	0.32530	0.975	0.58432	D	0.999998	D;P;D;D	0.89917	1.0;0.806;1.0;1.0	D;B;D;D	0.97110	1.0;0.446;0.998;0.999	T	0.04103	-1.0977	10	0.48119	T	0.1	-6.6767	9.5344	0.39213	0.1576:0.0:0.0:0.8424	.	118;214;214;118	Q96HL8-4;Q96HL8-2;Q96HL8;Q96HL8-3	.;.;SH3Y1_HUMAN;.	C	118;214;118;214;214;118;146;170	ENSP00000404143:Y118C;ENSP00000384276:Y214C;ENSP00000385668:Y118C;ENSP00000384269:Y214C;ENSP00000348471:Y214C;ENSP00000383928:Y118C;ENSP00000416312:Y146C	ENSP00000348471:Y214C	Y	-	2	0	SH3YL1	221084	1.000000	0.71417	0.979000	0.43373	0.487000	0.33371	3.346000	0.52190	0.760000	0.33108	0.455000	0.32223	TAT		SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677	
TPO	7173	hgsc.bcm.edu	37	2	1491665	1491665	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:1491665A>G	ENST00000345913.4	+	10	1761	c.1670A>G	c.(1669-1671)aAc>aGc	p.N557S	TPO_ENST00000346956.3_Missense_Mutation_p.N557S|TPO_ENST00000329066.4_Missense_Mutation_p.N557S|TPO_ENST00000382201.3_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.N384S|TPO_ENST00000337415.3_Missense_Mutation_p.N557S|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.N384S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	557					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGCTGATGAACGAGGAGCTG	0.562																																																	0			2											135.0	111.0	120.0					2																	1491665		2203	4300	6503	1470672	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1670A>G	2.37:g.1491665A>G	ENSP00000318820:p.Asn557Ser	Somatic		Capture	Illumina HiSeq	Phase_I	1470672	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	A	1.771	-0.484393	0.04383	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.88	3.72	0.42706	.	0.276012	0.38326	N	0.001735	T	0.43322	0.1242	L	0.29908	0.895	0.20074	N	0.999936	B;P;B	0.39352	0.36;0.669;0.412	B;B;B	0.37451	0.161;0.19;0.25	T	0.20140	-1.0284	10	0.21540	T	0.41	-22.4378	5.7928	0.18369	0.7731:0.0:0.0793:0.1476	.	557;384;557	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	S	557;557;557;384;557;384;486	ENSP00000337263:N557S;ENSP00000318820:N557S;ENSP00000263886:N557S;ENSP00000332044:N384S;ENSP00000329869:N557S;ENSP00000371633:N384S;ENSP00000405788:N486S	ENSP00000329869:N557S	N	+	2	0	TPO	1470672	0.895000	0.30542	0.732000	0.30844	0.685000	0.39939	1.879000	0.39618	0.715000	0.32103	0.482000	0.46254	AAC		TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
E2F6	1876	hgsc.bcm.edu	37	2	11587813	11587813	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:11587813T>C	ENST00000381525.3	-	6	1008	c.739A>G	c.(739-741)Agg>Ggg	p.R247G	E2F6_ENST00000542100.1_Missense_Mutation_p.R172G|E2F6_ENST00000546212.1_Missense_Mutation_p.R172G|E2F6_ENST00000307236.4_Missense_Mutation_p.R215G|E2F6_ENST00000362009.4_3'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	247	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		CCTTCAGACCTTTTGTTACTG	0.458																																																	0			2											102.0	93.0	96.0					2																	11587813		1880	4105	5985	11505264	SO:0001583	missense	1876			AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.739A>G	2.37:g.11587813T>C	ENSP00000370936:p.Arg247Gly	Somatic		Capture	Illumina HiSeq	Phase_I	11505264	A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	ENST00000381525.3	37	CCDS1680.2	.	.	.	.	.	.	.	.	.	.	T	9.749	1.167010	0.21621	.	.	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.88	-7.31	0.01441	.	3.278190	0.00654	N	0.000577	T	0.04048	0.0113	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34925	-0.9809	10	0.48119	T	0.1	17.3777	3.0861	0.06278	0.1853:0.1219:0.0931:0.5996	.	247;215	O75461;G5E936	E2F6_HUMAN;.	G	247;215;172;172	ENSP00000370936:R247G;ENSP00000302159:R215G;ENSP00000446315:R172G;ENSP00000438864:R172G	ENSP00000302159:R215G	R	-	1	2	E2F6	11505264	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.524000	0.06222	-1.305000	0.02327	0.533000	0.62120	AGG		E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	NM_001952	
RAD51AP2	729475	hgsc.bcm.edu	37	2	17699407	17699407	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:17699407T>G	ENST00000399080.2	-	1	299	c.276A>C	c.(274-276)aaA>aaC	p.K92N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	92										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACTGACTGATTTCTCCACAC	0.453																																																	0			2											95.0	95.0	95.0					2																	17699407		1880	4113	5993	17562888	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.276A>C	2.37:g.17699407T>G	ENSP00000382030:p.Lys92Asn	Somatic		Capture	Illumina HiSeq	Phase_I	17562888		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.346339	0.82022	.	.	ENSG00000214842	ENST00000399080	T	0.34472	1.36	3.45	-6.9	0.01655	.	.	.	.	.	T	0.21186	0.0510	L	0.27053	0.805	0.09310	N	1	P	0.49635	0.926	B	0.42995	0.404	T	0.20907	-1.0261	9	0.51188	T	0.08	-2.9426	6.9651	0.24619	0.0:0.3738:0.4408:0.1854	.	92	Q09MP3	R51A2_HUMAN	N	92	ENSP00000382030:K92N	ENSP00000382030:K92N	K	-	3	2	RAD51AP2	17562888	0.000000	0.05858	0.000000	0.03702	0.830000	0.47004	-1.714000	0.01881	-1.516000	0.01782	0.402000	0.26972	AAA		RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
PTRHD1	391356	hgsc.bcm.edu	37	2	25013425	25013425	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:25013425T>G	ENST00000328379.5	-	2	282	c.278A>C	c.(277-279)gAg>gCg	p.E93A	CENPO_ENST00000380834.2_5'Flank|CENPO_ENST00000473706.1_5'Flank|PTRHD1_ENST00000487316.1_5'UTR|CENPO_ENST00000260662.1_5'Flank	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	93						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						CTCGGCCAGCTCCTTTAGGGT	0.507																																																	0			2											92.0	79.0	84.0					2																	25013425		2203	4300	6503	24866929	SO:0001583	missense	391356				CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.278A>C	2.37:g.25013425T>G	ENSP00000330389:p.Glu93Ala	Somatic		Capture	Illumina HiSeq	Phase_I	24866929		Missense_Mutation	SNP	ENST00000328379.5	37	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	T	9.362	1.068158	0.20067	.	.	ENSG00000184924	ENST00000328379	T	0.27720	1.65	5.08	-0.501	0.12008	Peptidyl-tRNA hydrolase II domain (2);	0.702237	0.14187	N	0.335631	T	0.11537	0.0281	N	0.05414	-0.055	0.26063	N	0.981324	B	0.02656	0.0	B	0.06405	0.002	T	0.31943	-0.9925	10	0.14656	T	0.56	-4.2503	5.0624	0.14564	0.3883:0.0:0.2863:0.3254	.	93	Q6GMV3	PTRD1_HUMAN	A	93	ENSP00000330389:E93A	ENSP00000330389:E93A	E	-	2	0	PTRHD1	24866929	0.000000	0.05858	0.993000	0.49108	0.991000	0.79684	0.015000	0.13355	0.111000	0.17947	0.533000	0.62120	GAG		PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663	
ADCY3	109	hgsc.bcm.edu	37	2	25141305	25141305	+	Silent	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:25141305G>T	ENST00000260600.5	-	1	1403	c.552C>A	c.(550-552)ccC>ccA	p.P184P		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	184					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGAGGCTGAGGGGCAGCGTGA	0.622																																																	0			2											74.0	80.0	78.0					2																	25141305		2203	4300	6503	24994809	SO:0001819	synonymous_variant	114			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.552C>A	2.37:g.25141305G>T		Somatic		Capture	Illumina HiSeq	Phase_I	24994809	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																				ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		
EFR3B	22979	hgsc.bcm.edu	37	2	25344612	25344612	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:25344612G>A	ENST00000403714.3	+	5	617	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	EFR3B_ENST00000402191.1_Missense_Mutation_p.R110Q|EFR3B_ENST00000405108.1_5'UTR|EFR3B_ENST00000401432.3_Missense_Mutation_p.R145Q	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	145										endometrium(1)	1						TTTGTGTCCCGATTCAGTGAA	0.488																																																	0			2											142.0	113.0	121.0					2																	25344612		692	1591	2283	25198116	SO:0001583	missense	22979			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.434G>A	2.37:g.25344612G>A	ENSP00000384081:p.Arg145Gln	Somatic		Capture	Illumina HiSeq	Phase_I	25198116	B7WPL8|Q86XU6	Missense_Mutation	SNP	ENST00000403714.3	37	CCDS46231.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235765	0.58886	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000264719	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.38	3.5	0.40072	Armadillo-like helical (1);Armadillo-type fold (1);	0.061023	0.64402	D	0.000003	T	0.21387	0.0515	L	0.43152	1.355	0.80722	D	1	D;P	0.61080	0.989;0.857	P;B	0.50537	0.643;0.273	T	0.01165	-1.1431	10	0.52906	T	0.07	-21.4086	11.2654	0.49108	0.0903:0.0:0.9097:0.0	.	145;145	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	Q	145;145;110;110;24	ENSP00000386082:R145Q;ENSP00000384081:R145Q;ENSP00000385832:R110Q;ENSP00000264719:R24Q	ENSP00000264719:R24Q	R	+	2	0	EFR3B	25198116	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	6.403000	0.73264	1.056000	0.40484	0.491000	0.48974	CGA		EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324808.1	NM_014971	
CCDC88A	55704	hgsc.bcm.edu	37	2	55562020	55562020	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:55562020T>C	ENST00000436346.1	-	15	2778	c.1937A>G	c.(1936-1938)aAa>aGa	p.K646R	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.K646R|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K646R|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K646R|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	646					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGTTATTTTTTTCTGTAATAA	0.239																																																	0			2											13.0	12.0	12.0					2																	55562020		2127	4172	6299	55415524	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1937A>G	2.37:g.55562020T>C	ENSP00000410608:p.Lys646Arg	Somatic		Capture	Illumina HiSeq	Phase_I	55415524	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	T	13.28	2.189154	0.38707	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.06	5.06	0.68205	.	0.000000	0.51477	U	0.000096	T	0.47116	0.1428	L	0.31752	0.955	0.80722	D	1	B;D;D	0.71674	0.188;0.998;0.998	B;D;D	0.78314	0.062;0.991;0.957	T	0.38779	-0.9645	10	0.35671	T	0.21	-24.677	14.8159	0.70034	0.0:0.0:0.0:1.0	.	646;646;646	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	R	646	ENSP00000338728:K646R;ENSP00000263630:K646R;ENSP00000410608:K646R;ENSP00000404431:K646R	ENSP00000263630:K646R	K	-	2	0	CCDC88A	55415524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.937000	0.70162	1.896000	0.54893	0.459000	0.35465	AAA		CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
VRK2	7444	hgsc.bcm.edu	37	2	58275998	58275998	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:58275998T>C	ENST00000435505.2	+	5	777	c.32T>C	c.(31-33)cTt>cCt	p.L11P	VRK2_ENST00000340157.4_Missense_Mutation_p.L11P|VRK2_ENST00000412104.2_Missense_Mutation_p.L11P|VRK2_ENST00000440705.2_Intron|VRK2_ENST00000417641.2_Missense_Mutation_p.L11P			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	11					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L11H(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AAATACAAACTTCCTATTCCA	0.378																																																	1	Substitution - Missense(1)	ovary(1)	2											81.0	85.0	84.0					2																	58275998		2203	4300	6503	58129502	SO:0001583	missense	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.32T>C	2.37:g.58275998T>C	ENSP00000408002:p.Leu11Pro	Somatic		Capture	Illumina HiSeq	Phase_I	58129502	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065626	0.76187	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000428021	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.86028	2.79	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.94	D;D;P	0.77557	0.99;0.987;0.824	T	0.76992	-0.2753	10	0.87932	D	0	-15.3956	14.9988	0.71455	0.0:0.0:0.0:1.0	.	11;11;11	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	P	11;11;11;11;11;11;16	ENSP00000408002:L11P;ENSP00000402375:L11P;ENSP00000404156:L11P;ENSP00000342381:L11P;ENSP00000404961:L16P	ENSP00000342381:L11P	L	+	2	0	VRK2	58129502	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.124000	0.64709	2.279000	0.76181	0.533000	0.62120	CTT		VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	
IL1RL2	8808	hgsc.bcm.edu	37	2	102808570	102808570	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:102808570A>C	ENST00000264257.2	+	4	605	c.479A>C	c.(478-480)aAg>aCg	p.K160T	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.K160T|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	160	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGTCCAATAAAGTGGTATAAG	0.308																																																	0			2											77.0	75.0	76.0					2																	102808570		2203	4300	6503	102175002	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.479A>C	2.37:g.102808570A>C	ENSP00000264257:p.Lys160Thr	Somatic		Capture	Illumina HiSeq	Phase_I	102175002	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.268974	0.23221	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.11930	2.73;2.73;2.73	5.4	-4.05	0.03998	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.685751	0.15046	N	0.283570	T	0.04092	0.0114	N	0.12637	0.245	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.39375	-0.9617	10	0.06757	T	0.87	.	2.5154	0.04667	0.2975:0.3817:0.0741:0.2467	.	160	Q9HB29	ILRL2_HUMAN	T	160	ENSP00000264257:K160T;ENSP00000387611:K160T;ENSP00000442184:K160T	ENSP00000264257:K160T	K	+	2	0	IL1RL2	102175002	0.024000	0.19004	0.016000	0.15963	0.011000	0.07611	-0.057000	0.11768	-0.877000	0.04012	-1.402000	0.01139	AAG		IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
ACOXL	55289	hgsc.bcm.edu	37	2	111744754	111744754	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:111744754C>A	ENST00000389811.4	+	14	1443	c.1219C>A	c.(1219-1221)Caa>Aaa	p.Q407K	ACOXL_ENST00000439055.1_Missense_Mutation_p.Q377K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	407					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGCCTGCTCCAAAACTGGGC	0.498																																																	0			2											102.0	80.0	88.0					2																	111744754		2203	4300	6503	111461225	SO:0001583	missense	55289				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1219C>A	2.37:g.111744754C>A	ENSP00000374461:p.Gln407Lys	Somatic		Capture	Illumina HiSeq	Phase_I	111461225	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37		.	.	.	.	.	.	.	.	.	.	C	5.276	0.236302	0.10023	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	T;T;T	0.69306	-0.39;-0.39;-0.39	5.35	3.56	0.40772	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.753212	0.11413	N	0.566555	T	0.48822	0.1521	L	0.27053	0.805	0.21147	N	0.999772	B;B;B	0.20261	0.043;0.034;0.001	B;B;B	0.18561	0.016;0.022;0.002	T	0.27536	-1.0071	10	0.06494	T	0.89	-24.7234	10.1068	0.42539	0.0:0.8348:0.0:0.1652	.	377;377;407	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	K	407;377;228;215	ENSP00000374461:Q407K;ENSP00000407761:Q377K;ENSP00000387832:Q215K	ENSP00000374461:Q407K	Q	+	1	0	ACOXL	111461225	0.086000	0.21541	0.003000	0.11579	0.938000	0.57974	0.955000	0.29188	0.762000	0.33152	0.591000	0.81541	CAA		ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308	
TMEM87B	84910	hgsc.bcm.edu	37	2	112849344	112849344	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:112849344C>T	ENST00000283206.4	+	11	1457	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	363						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GTTATTGACTCCATTTTTGTG	0.299																																																	0			2											271.0	232.0	245.0					2																	112849344		2203	4298	6501	112565815	SO:0001583	missense	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1088C>T	2.37:g.112849344C>T	ENSP00000283206:p.Ser363Phe	Somatic		Capture	Illumina HiSeq	Phase_I	112565815	A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564350	0.86335	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.74	5.74	0.90152	.	0.162448	0.56097	D	0.000029	T	0.77611	0.4156	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.78971	-0.1993	9	0.87932	D	0	-15.3363	15.7886	0.78332	0.0:1.0:0.0:0.0	.	363	Q96K49	TM87B_HUMAN	F	363	.	ENSP00000283206:S363F	S	+	2	0	TMEM87B	112565815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.669000	0.74462	2.873000	0.98535	0.563000	0.77884	TCC		TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	
CNTNAP5	129684	hgsc.bcm.edu	37	2	125281916	125281916	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:125281916G>C	ENST00000431078.1	+	9	1725	c.1361G>C	c.(1360-1362)aGc>aCc	p.S454T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	454	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACTCGGTTAGCATCAACGCC	0.527																																																	0			2											77.0	82.0	80.0					2																	125281916		2080	4221	6301	124998386	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1361G>C	2.37:g.125281916G>C	ENSP00000399013:p.Ser454Thr	Somatic		Capture	Illumina HiSeq	Phase_I	124998386	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647910	0.47258	.	.	ENSG00000155052	ENST00000431078	T	0.77620	-1.11	5.95	4.16	0.48862	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.095877	0.45361	D	0.000365	T	0.59865	0.2225	N	0.20845	0.615	0.41006	D	0.984965	B	0.24092	0.097	B	0.27170	0.077	T	0.55667	-0.8105	10	0.32370	T	0.25	.	4.6813	0.12736	0.2261:0.169:0.6049:0.0	.	454	Q8WYK1	CNTP5_HUMAN	T	454	ENSP00000399013:S454T	ENSP00000399013:S454T	S	+	2	0	CNTNAP5	124998386	1.000000	0.71417	0.997000	0.53966	0.345000	0.29048	1.695000	0.37763	1.542000	0.49330	-0.123000	0.14984	AGC		CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
LRP1B	53353	hgsc.bcm.edu	37	2	141751586	141751586	+	Silent	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:141751586G>A	ENST00000389484.3	-	16	3593	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	874	LDL-receptor class A 3. {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)	p.S874S(2)		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)		AATCCTCATCGCTTCCGTCTA	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												2	Substitution - coding silent(2)	large_intestine(2)	2											127.0	121.0	123.0					2																	141751586		2203	4300	6503	141468056	SO:0001819	synonymous_variant	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.2622C>T	2.37:g.141751586G>A		Somatic		Capture	Illumina HiSeq	Phase_I	141468056	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
FMNL2	114793	hgsc.bcm.edu	37	2	153484985	153484985	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:153484985C>A	ENST00000475377.2	+	5	663	c.463C>A	c.(463-465)Cag>Aag	p.Q155K	FMNL2_ENST00000288670.9_Missense_Mutation_p.Q780K			Q96PY5	FMNL2_HUMAN	formin-like 2	780	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAGGCTCATGCAGAAGATGAC	0.498																																																	0			2											130.0	134.0	133.0					2																	153484985		2114	4239	6353	153193231	SO:0001583	missense	114793			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.463C>A	2.37:g.153484985C>A	ENSP00000418959:p.Gln155Lys	Somatic		Capture	Illumina HiSeq	Phase_I	153193231	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.115529	0.77323	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.16073	2.37;2.37	5.31	5.31	0.75309	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.099931	0.64402	D	0.000001	T	0.46444	0.1393	M	0.82630	2.6	0.80722	D	1	D;B;P	0.53885	0.963;0.407;0.723	D;B;P	0.71414	0.973;0.403;0.561	T	0.27971	-1.0058	10	0.32370	T	0.25	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	780;261;780	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	K	780;261;155	ENSP00000288670:Q780K;ENSP00000418959:Q155K	ENSP00000288670:Q780K	Q	+	1	0	FMNL2	153193231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.763000	0.94921	0.563000	0.77884	CAG		FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905	
GALNT13	114805	hgsc.bcm.edu	37	2	154801024	154801024	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:154801024T>C	ENST00000392825.3	+	3	581	c.14T>C	c.(13-15)gTc>gCc	p.V5A	GALNT13_ENST00000409237.1_Missense_Mutation_p.V5A	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	5					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGGAGATTTGTCTACTGCAAG	0.408																																																	0			2											231.0	207.0	215.0					2																	154801024		2203	4300	6503	154509270	SO:0001583	missense	117248			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.14T>C	2.37:g.154801024T>C	ENSP00000376570:p.Val5Ala	Somatic		Capture	Illumina HiSeq	Phase_I	154509270	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502793	0.26949	.	.	ENSG00000144278	ENST00000392825;ENST00000434213;ENST00000409237	T;T	0.52983	0.7;0.64	5.43	5.43	0.79202	.	0.145294	0.46145	N	0.000319	T	0.21962	0.0529	N	0.02391	-0.57	0.49299	D	0.999771	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15435	-1.0437	10	0.08837	T	0.75	.	14.2927	0.66289	0.0:0.0:0.0:1.0	.	5;5	Q08ER7;Q8IUC8	.;GLT13_HUMAN	A	5	ENSP00000376570:V5A;ENSP00000387239:V5A	ENSP00000376570:V5A	V	+	2	0	GALNT13	154509270	0.959000	0.32827	1.000000	0.80357	0.993000	0.82548	1.441000	0.35035	2.056000	0.61249	0.477000	0.44152	GTC		GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
WDSUB1	151525	hgsc.bcm.edu	37	2	160112842	160112842	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:160112842A>T	ENST00000409990.3	-	9	1253	c.997T>A	c.(997-999)Tca>Aca	p.S333T	WDSUB1_ENST00000409124.1_Missense_Mutation_p.S333T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S241T|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S333T|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S333T	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	333	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TCCTCCTCTGACCAATCTTCG	0.338																																																	0			2											104.0	100.0	102.0					2																	160112842		2203	4300	6503	159821088	SO:0001583	missense	151525			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.997T>A	2.37:g.160112842A>T	ENSP00000387078:p.Ser333Thr	Somatic		Capture	Illumina HiSeq	Phase_I	159821088	Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185002	0.78677	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	D;D;D;D;T	0.84800	-1.9;-1.9;-1.9;-1.9;2.25	5.76	5.76	0.90799	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	N	0.21142	0.635	0.58432	D	0.999999	D;D;B	0.76494	0.998;0.999;0.22	D;D;B	0.83275	0.994;0.996;0.249	D	0.88091	0.2813	10	0.46703	T	0.11	.	16.066	0.80870	1.0:0.0:0.0:0.0	.	241;333;333	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	T	333;241;333;333;333	ENSP00000352820:S333T;ENSP00000350866:S241T;ENSP00000376545:S333T;ENSP00000387078:S333T;ENSP00000386891:S333T	ENSP00000350866:S241T	S	-	1	0	WDSUB1	159821088	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.795000	0.91872	2.190000	0.69967	0.533000	0.62120	TCA		WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528	
IFIH1	64135	hgsc.bcm.edu	37	2	163144688	163144688	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:163144688T>C	ENST00000263642.2	-	5	1447	c.1052A>G	c.(1051-1053)aAa>aGa	p.K351R		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	351	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AGATGCTTTTTTCTTCTTGTC	0.383																																																	0			2											108.0	108.0	108.0					2																	163144688		2203	4300	6503	162852934	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1052A>G	2.37:g.163144688T>C	ENSP00000263642:p.Lys351Arg	Somatic		Capture	Illumina HiSeq	Phase_I	162852934	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	9.158	1.017913	0.19355	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05081	3.5	5.84	3.46	0.39613	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.286088	0.42964	D	0.000622	T	0.02610	0.0079	N	0.02854	-0.475	0.32066	N	0.595068	B	0.12630	0.006	B	0.14023	0.01	T	0.30090	-0.9990	10	0.17369	T	0.5	-9.9286	9.3498	0.38131	0.0:0.264:0.0:0.736	.	351	Q9BYX4	IFIH1_HUMAN	R	351	ENSP00000263642:K351R	ENSP00000263642:K351R	K	-	2	0	IFIH1	162852934	0.002000	0.14202	0.968000	0.41197	0.979000	0.70002	-0.068000	0.11561	1.054000	0.40438	0.528000	0.53228	AAA		IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	
COBLL1	22837	hgsc.bcm.edu	37	2	165552326	165552326	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:165552326C>A	ENST00000392717.2	-	13	1808	c.1804G>T	c.(1804-1806)Gtc>Ttc	p.V602F	COBLL1_ENST00000342193.4_Missense_Mutation_p.V564F|COBLL1_ENST00000375458.2_Missense_Mutation_p.V526F|COBLL1_ENST00000194871.6_Missense_Mutation_p.V631F|COBLL1_ENST00000409184.3_Missense_Mutation_p.V564F			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	602						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTGGATAGACAATTATTTCA	0.303																																																	0			2											57.0	52.0	54.0					2																	165552326		2202	4297	6499	165260572	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1804G>T	2.37:g.165552326C>A	ENSP00000376478:p.Val602Phe	Somatic		Capture	Illumina HiSeq	Phase_I	165260572	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	C	1.328	-0.597522	0.03771	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.85	-0.43	0.12299	.	0.546302	0.17876	N	0.159015	T	0.17066	0.0410	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.003;0.003;0.006	B;B;B	0.15870	0.006;0.007;0.014	T	0.10451	-1.0629	9	0.30854	T	0.27	-0.1016	2.8914	0.05677	0.1036:0.3873:0.2915:0.2176	.	602;631;564	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	F	526;564;564;602;631	.	ENSP00000194871:V631F	V	-	1	0	COBLL1	165260572	0.001000	0.12720	0.011000	0.14972	0.062000	0.15995	-0.355000	0.07671	0.378000	0.24764	-0.136000	0.14681	GTC		COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
XIRP2	129446	hgsc.bcm.edu	37	2	168100409	168100409	+	Missense_Mutation	SNP	C	C	A	rs77595411		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:168100409C>A	ENST00000409195.1	+	9	2596	c.2507C>A	c.(2506-2508)aCa>aAa	p.T836K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T614K|XIRP2_ENST00000295237.9_Missense_Mutation_p.T836K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	661					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAATAGGTACAGATGTCTCC	0.393																																																	0			2											87.0	87.0	87.0					2																	168100409		1820	4076	5896	167808655	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2507C>A	2.37:g.168100409C>A	ENSP00000386840:p.Thr836Lys	Somatic		Capture	Illumina HiSeq	Phase_I	167808655	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965673	0.53507	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02631	4.22;4.22;4.22	5.82	4.94	0.65067	.	0.481828	0.24422	N	0.038668	T	0.07593	0.0191	L	0.57536	1.79	0.33869	D	0.634673	P;P;P	0.43231	0.801;0.763;0.763	P;P;B	0.49192	0.602;0.466;0.387	T	0.06881	-1.0802	10	0.62326	D	0.03	-2.0698	12.3646	0.55222	0.0:0.8584:0.0:0.1416	.	661;661;614	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	836;836;614	ENSP00000386840:T836K;ENSP00000295237:T836K;ENSP00000387255:T614K	ENSP00000295237:T836K	T	+	2	0	XIRP2	167808655	0.890000	0.30428	0.998000	0.56505	0.989000	0.77384	3.763000	0.55257	1.437000	0.47472	0.650000	0.86243	ACA		XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
LRP2	4036	hgsc.bcm.edu	37	2	170037974	170037974	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:170037974G>A	ENST00000263816.3	-	52	10438	c.10153C>T	c.(10153-10155)Cac>Tac	p.H3385Y	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3385					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TAACCCAGGTGGGCATCTGCC	0.413																																																	0			2											176.0	152.0	160.0					2																	170037974		2203	4300	6503	169746220	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10153C>T	2.37:g.170037974G>A	ENSP00000263816:p.His3385Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	169746220	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790940	0.90367	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.95885	-3.84	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95951	0.8954	10	0.49607	T	0.09	.	19.8385	0.96670	0.0:0.0:1.0:0.0	.	3385	P98164	LRP2_HUMAN	Y	3385;80	ENSP00000263816:H3385Y	ENSP00000263816:H3385Y	H	-	1	0	LRP2	169746220	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	9.869000	0.99810	2.701000	0.92244	0.655000	0.94253	CAC		LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	hgsc.bcm.edu	37	2	179472135	179472135	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:179472135T>G	ENST00000591111.1	-	227	48581	c.48357A>C	c.(48355-48357)gaA>gaC	p.E16119D	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8820D|TTN_ENST00000460472.2_Missense_Mutation_p.E8695D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17760D|TTN_ENST00000342175.6_Missense_Mutation_p.E8887D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15192D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16119	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAAAACTTCTACCCTGG	0.383																																																	0			2											167.0	158.0	161.0					2																	179472135		1871	4091	5962	179180380	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.48357A>C	2.37:g.179472135T>G	ENSP00000465570:p.Glu16119Asp	Somatic		Capture	Illumina HiSeq	Phase_I	179180380	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	10.23	1.292435	0.23564	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.99	3.66	0.41972	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.43144	0.1234	N	0.03281	-0.365	0.32084	N	0.592799	B;B;B;B	0.28605	0.121;0.121;0.121;0.217	B;B;B;B	0.30855	0.069;0.069;0.069;0.121	T	0.53092	-0.8487	9	0.87932	D	0	.	8.2865	0.31932	0.0:0.2092:0.0:0.7908	.	8695;8820;8887;16119	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15192;8695;8887;8820;8695	ENSP00000343764:E15192D;ENSP00000434586:E8695D;ENSP00000340554:E8887D;ENSP00000352154:E8820D	ENSP00000340554:E8887D	E	-	3	2	TTN	179180380	0.973000	0.33851	1.000000	0.80357	0.996000	0.88848	0.030000	0.13688	1.089000	0.41292	0.533000	0.62120	GAA		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179650445	179650445	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:179650445T>C	ENST00000591111.1	-	15	2619	c.2395A>G	c.(2395-2397)Acg>Gcg	p.T799A	TTN_ENST00000359218.5_Missense_Mutation_p.T753A|TTN_ENST00000460472.2_Missense_Mutation_p.T753A|TTN_ENST00000589042.1_Missense_Mutation_p.T799A|TTN_ENST00000342175.6_Missense_Mutation_p.T753A|TTN_ENST00000342992.6_Missense_Mutation_p.T799A|TTN_ENST00000360870.5_Missense_Mutation_p.T799A			Q8WZ42	TITIN_HUMAN	titin	33633			T -> M (in a colorectal adenocarcinoma 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)			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)			AATCTTTCCGTTGTTAGATCT	0.418																																																	0			2											237.0	225.0	229.0					2																	179650445		2203	4300	6503	179358690	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.2395A>G	2.37:g.179650445T>C	ENSP00000465570:p.Thr799Ala	Somatic		Capture	Illumina HiSeq	Phase_I	179358690	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	10.70	1.424570	0.25639	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64085	-0.08;0.15;0.14;0.13;0.18	5.51	4.33	0.51752	Ribonuclease H-like (1);	.	.	.	.	T	0.45478	0.1344	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.27068	0.002;0.002;0.002;0.001;0.167	B;B;B;B;B	0.24269	0.002;0.002;0.004;0.002;0.052	T	0.42732	-0.9434	9	0.87932	D	0	.	4.2858	0.10855	0.1247:0.0689:0.1302:0.6762	.	753;753;753;799;799	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	A	799;753;753;753;753;799	ENSP00000343764:T799A;ENSP00000434586:T753A;ENSP00000340554:T753A;ENSP00000352154:T753A;ENSP00000354117:T799A	ENSP00000340554:T753A	T	-	1	0	TTN	179358690	0.999000	0.42202	0.956000	0.39512	0.991000	0.79684	1.750000	0.38329	0.980000	0.38523	0.533000	0.62120	ACG		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MFSD6	54842	hgsc.bcm.edu	37	2	191301608	191301608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:191301608G>T	ENST00000392328.1	+	3	1177	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	MFSD6_ENST00000281416.7_Nonsense_Mutation_p.E285*	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	285					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACAAGAAGTTGAAGCTATATT	0.423																																																	0			2											231.0	220.0	224.0					2																	191301608		2203	4300	6503	191009853	SO:0001587	stop_gained	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.853G>T	2.37:g.191301608G>T	ENSP00000376141:p.Glu285*	Somatic		Capture	Illumina HiSeq	Phase_I	191009853	D3KSZ4|Q86TH2|Q9NXM3	Nonsense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870965	0.97049	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	.	.	.	6.07	6.07	0.98685	.	0.045213	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-24.3956	19.632	0.95713	0.0:0.0:1.0:0.0	.	.	.	.	X	285	.	ENSP00000281416:E285X	E	+	1	0	MFSD6	191009853	1.000000	0.71417	0.974000	0.42286	0.837000	0.47467	6.639000	0.74314	2.890000	0.99128	0.650000	0.86243	GAA		MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1		
STAT1	6772	hgsc.bcm.edu	37	2	191862981	191862981	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:191862981G>C	ENST00000361099.3	-	8	982	c.595C>G	c.(595-597)Ctc>Gtc	p.L199V	STAT1_ENST00000409465.1_Missense_Mutation_p.L199V|STAT1_ENST00000540176.1_Intron|STAT1_ENST00000392323.2_Missense_Mutation_p.L201V|STAT1_ENST00000392322.3_Missense_Mutation_p.L199V	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	199					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ATCTTCTTGAGTAACAGCTGT	0.343																																																	0			2											168.0	161.0	163.0					2																	191862981		2202	4298	6500	191571226	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.595C>G	2.37:g.191862981G>C	ENSP00000354394:p.Leu199Val	Somatic		Capture	Illumina HiSeq	Phase_I	191571226	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	3.437	-0.114914	0.06881	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.59	1.45	0.22620	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.491379	0.22687	N	0.056875	T	0.51907	0.1702	M	0.67700	2.07	0.35015	D	0.757296	B;B	0.12630	0.001;0.006	B;B	0.25884	0.006;0.064	T	0.55860	-0.8074	10	0.40728	T	0.16	-9.4431	7.8489	0.29442	0.0752:0.0:0.4869:0.4379	.	199;199	P42224-2;P42224	.;STAT1_HUMAN	V	199;199;199;201;107	ENSP00000354394:L199V;ENSP00000386244:L199V;ENSP00000376136:L199V;ENSP00000376137:L201V	ENSP00000354394:L199V	L	-	1	0	STAT1	191571226	0.923000	0.31300	0.103000	0.21229	0.204000	0.24138	1.417000	0.34770	0.599000	0.29845	-0.274000	0.10170	CTC		STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	
HECW2	57520	hgsc.bcm.edu	37	2	197143338	197143338	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:197143338G>A	ENST00000260983.3	-	15	3231	c.3049C>T	c.(3049-3051)Cgg>Tgg	p.R1017W	HECW2_ENST00000409111.1_Missense_Mutation_p.R661W	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1017	Interaction with TP73.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGTGGGAGCCGGGGATCAATG	0.532																																																	0			2											160.0	128.0	139.0					2																	197143338		2203	4300	6503	196851583	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3049C>T	2.37:g.197143338G>A	ENSP00000260983:p.Arg1017Trp	Somatic		Capture	Illumina HiSeq	Phase_I	196851583	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899316	0.72754	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85411	-1.98;-1.98	5.02	4.12	0.48240	WW/Rsp5/WWP (4);	0.000000	0.85682	D	0.000000	D	0.93006	0.7774	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93222	0.6609	10	0.87932	D	0	.	8.9623	0.35854	0.0765:0.0:0.778:0.1455	.	1017	Q9P2P5	HECW2_HUMAN	W	661;1017	ENSP00000386775:R661W;ENSP00000260983:R1017W	ENSP00000260983:R1017W	R	-	1	2	HECW2	196851583	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	4.515000	0.60489	2.596000	0.87737	0.655000	0.94253	CGG		HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
CDK15	65061	hgsc.bcm.edu	37	2	202698582	202698582	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:202698582T>A	ENST00000374598.4	+	7	618	c.618T>A	c.(616-618)ttT>ttA	p.F206L	CDK15_ENST00000450471.2_Missense_Mutation_p.F206L|CDK15_ENST00000260967.2_Missense_Mutation_p.F155L|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.F206L|CDK15_ENST00000410091.3_Missense_Mutation_p.F155L			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TTTTCATGTTTCAACTTTTGC	0.458																																																	0			2											178.0	156.0	164.0					2																	202698582		2203	4300	6503	202406827	SO:0001583	missense	0			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.618T>A	2.37:g.202698582T>A	ENSP00000363726:p.Phe206Leu	Somatic		Capture	Illumina HiSeq	Phase_I	202406827	A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37		.	.	.	.	.	.	.	.	.	.	T	22.4	4.282285	0.80692	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.47	3.12	0.35913	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	N	0.13235	0.315	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.38824	-0.9643	10	0.72032	D	0.01	-15.9685	5.3812	0.16192	0.0:0.3873:0.0:0.6127	.	185;206;206	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	L	155;155;206;206;206	ENSP00000386901:F155L;ENSP00000260967:F155L;ENSP00000406472:F206L;ENSP00000412775:F206L;ENSP00000363726:F206L	ENSP00000260967:F155L	F	+	3	2	CDK15	202406827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.531000	0.45650	0.909000	0.36697	0.454000	0.30748	TTT		CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2		
UNC80	285175	hgsc.bcm.edu	37	2	210705325	210705325	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:210705325G>T	ENST00000439458.1	+	20	3396	c.3316G>T	c.(3316-3318)Gac>Tac	p.D1106Y	UNC80_ENST00000272845.6_Missense_Mutation_p.D1101Y	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1106					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						GGACCTCCTGGACATTAGCTC	0.443																																																	0			2											159.0	134.0	142.0					2																	210705325		692	1591	2283	210413570	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.3316G>T	2.37:g.210705325G>T	ENSP00000391088:p.Asp1106Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	210413570	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937783	0.92458	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.34275	1.37;1.37	5.94	5.94	0.96194	.	0.106398	0.64402	D	0.000010	T	0.54240	0.1846	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52593	-0.8555	10	0.72032	D	0.01	-23.9144	20.3731	0.98895	0.0:0.0:1.0:0.0	.	1106	Q8N2C7	UNC80_HUMAN	Y	1106;1101	ENSP00000391088:D1106Y;ENSP00000272845:D1101Y	ENSP00000272845:D1101Y	D	+	1	0	UNC80	210413570	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	9.843000	0.99491	2.829000	0.97493	0.650000	0.86243	GAC		UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
SPEG	10290	hgsc.bcm.edu	37	2	220350102	220350102	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:220350102C>T	ENST00000312358.7	+	31	7776	c.7644C>T	c.(7642-7644)ggC>ggT	p.G2548G	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2548					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCGCTGGGGCTTCTCTCGGC	0.607																																																	0			2											51.0	59.0	57.0					2																	220350102		1977	4144	6121	220058346	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7644C>T	2.37:g.220350102C>T		Somatic		Capture	Illumina HiSeq	Phase_I	220058346	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
ACSL3	2181	hgsc.bcm.edu	37	2	223795495	223795495	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:223795495G>T	ENST00000357430.3	+	14	2228	c.1697G>T	c.(1696-1698)gGa>gTa	p.G566V	AC013476.1_ENST00000582868.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.G566V	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	566					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGGGATATTGGAGAGTTTGAA	0.338			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0			2											112.0	114.0	113.0					2																	223795495		2203	4300	6503	223503739	SO:0001583	missense	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1697G>T	2.37:g.223795495G>T	ENSP00000350012:p.Gly566Val	Somatic		Capture	Illumina HiSeq	Phase_I	223503739	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.636319|4.636319	0.87760|0.87760	.|.	.|.	ENSG00000123983|ENSG00000123983	ENST00000407441|ENST00000357430;ENST00000392066	.|T;T	.|0.49139	.|0.79;0.79	5.74|5.74	5.74|5.74	0.90152|0.90152	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.72028	.|0.3410	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.74321	.|-0.3703	.|10	.|0.87932	.|D	.|0	-19.2626|-19.2626	19.9187|19.9187	0.97077|0.97077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|566	.|O95573	.|ACSL3_HUMAN	X|V	67|566	.|ENSP00000350012:G566V;ENSP00000375918:G566V	.|ENSP00000350012:G566V	E|G	+|+	1|2	0|0	ACSL3|ACSL3	223503739|223503739	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	9.869000|9.869000	0.99810|0.99810	2.702000|2.702000	0.92279|0.92279	0.591000|0.591000	0.81541|0.81541	GAG|GGA		ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
NYAP2	57624	hgsc.bcm.edu	37	2	226378131	226378131	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:226378131G>A	ENST00000272907.6	+	3	679	c.266G>A	c.(265-267)gGc>gAc	p.G89D	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	89					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGTTACGTGGGCAAACATTTC	0.498																																																	0			2											78.0	82.0	80.0					2																	226378131		2049	4188	6237	226086375	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.266G>A	2.37:g.226378131G>A	ENSP00000272907:p.Gly89Asp	Somatic		Capture	Illumina HiSeq	Phase_I	226086375	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567097	0.86439	.	.	ENSG00000144460	ENST00000272907	T	0.31247	1.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	M	0.61703	1.905	0.80722	D	1	P	0.38827	0.649	B	0.38428	0.273	T	0.06180	-1.0841	10	0.34782	T	0.22	-29.9756	12.5326	0.56124	0.0762:0.0:0.9238:0.0	.	89	Q9P242	K1486_HUMAN	D	89	ENSP00000272907:G89D	ENSP00000272907:G89D	G	+	2	0	KIAA1486	226086375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.409000	0.80053	2.532000	0.85374	0.563000	0.77884	GGC		NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
DGKD	8527	hgsc.bcm.edu	37	2	234363415	234363415	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:234363415T>C	ENST00000264057.2	+	19	2283	c.2271T>C	c.(2269-2271)taT>taC	p.Y757Y	DGKD_ENST00000409813.3_Silent_p.Y713Y	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	757					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCAGAGAGTATTACACGGAGA	0.443																																																	0			2											123.0	111.0	115.0					2																	234363415		2203	4300	6503	234028154	SO:0001819	synonymous_variant	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2271T>C	2.37:g.234363415T>C		Somatic		Capture	Illumina HiSeq	Phase_I	234028154	Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	CCDS2504.1																																																																																				DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
COL6A3	1293	hgsc.bcm.edu	37	2	238285464	238285465	+	Missense_Mutation	DNP	TG	TG	AT	rs201085369		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T|G	T|G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:238285464_238285465TG>AT	ENST00000295550.4	-	7	3472_3473	c.3020_3021CA>AT	c.(3019-3021)cCA>cAT	p.P1007H	COL6A3_ENST00000347401.3_Missense_Mutation_p.P806H|COL6A3_ENST00000346358.4_Missense_Mutation_p.P807H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P801H|COL6A3_ENST00000392003.2_Missense_Mutation_p.P600H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P400H|COL6A3_ENST00000392004.3_Missense_Mutation_p.P801H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P801H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1007	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1007P(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACTATCTGTGGATGAAGATC	0.490																																																	1	Substitution - coding silent(1)	ovary(1)	2																																								237950203|237950204	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3020_3021delinsAT	2.37:g.238285464_238285465delinsAT	ENSP00000295550:p.Pro1007His	Somatic		Capture	Illumina HiSeq	Phase_I	237950203|237950204	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent|Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
AQP12B	653437	hgsc.bcm.edu	37	2	241621869	241621869	+	Missense_Mutation	SNP	G	G	A	rs74882485	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:241621869G>A	ENST00000407834.3	-	1	448	c.386C>T	c.(385-387)aCg>aTg	p.T129M		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	117						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCAGAGGCGCGTCAGGGTGCA	0.697																																																	0			2											24.0	24.0	24.0					2																	241621869		2196	4279	6475	241270542	SO:0001583	missense	653437			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.386C>T	2.37:g.241621869G>A	ENSP00000384894:p.Thr129Met	Somatic		Capture	Illumina HiSeq	Phase_I	241270542	A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	7.337	0.620131	0.14193	.	.	ENSG00000185176	ENST00000407834	T	0.15017	2.46	2.84	1.94	0.25998	.	0.293024	0.38492	N	0.001671	T	0.26810	0.0656	.	.	.	0.80722	P	0.0	D	0.71674	0.998	P	0.61592	0.891	T	0.30995	-0.9959	8	0.28530	T	0.3	-0.0254	8.3053	0.32038	0.1286:0.0:0.8714:0.0	.	129	A6NM10-2	.	M	129	ENSP00000384894:T129M	ENSP00000384894:T129M	T	-	2	0	AQP12B	241270542	0.997000	0.39634	0.002000	0.10522	0.132000	0.20833	5.268000	0.65536	0.748000	0.32831	0.473000	0.43528	ACG		AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1		
PAX5	5079	hgsc.bcm.edu	37	9	37015164	37015164	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr9:37015164A>G	ENST00000358127.4	-	3	314	c.240T>C	c.(238-240)ccT>ccC	p.P80P	PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000520281.1_Silent_p.P80P|PAX5_ENST00000520154.1_Silent_p.P80P|PAX5_ENST00000523241.1_Silent_p.P80P|PAX5_ENST00000377853.2_Silent_p.P80P|PAX5_ENST00000377852.2_Silent_p.P80P|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377847.2_Silent_p.P80P|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000414447.1_Silent_p.P80P	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	80	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		P -> R. {ECO:0000269|PubMed:24013638}.		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.?(42)	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)		CAATTACCCCAGGCTTGATGC	0.458			"""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	42	Unknown(42)	haematopoietic_and_lymphoid_tissue(42)	9											197.0	203.0	201.0					9																	37015164		2203	4300	6503	37005164	SO:0001819	synonymous_variant	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.240T>C	9.37:g.37015164A>G		Somatic		Capture	Illumina HiSeq	Phase_I	37005164	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Silent	SNP	ENST00000358127.4	37	CCDS6607.1																																																																																				PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		
FRMPD1	22844	hgsc.bcm.edu	37	9	37740330	37740330	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr9:37740330C>A	ENST00000539465.1	+	15	2398	c.1805C>A	c.(1804-1806)aCc>aAc	p.T602N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.T424N|FRMPD1_ENST00000377765.3_Missense_Mutation_p.T602N|FRMPD1_ENST00000541302.1_Missense_Mutation_p.T471N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	602						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGCTACAGGACCAGTGGCTCG	0.642																																																	0			9											34.0	35.0	34.0					9																	37740330		2196	4282	6478	37730330	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1805C>A	9.37:g.37740330C>A	ENSP00000444411:p.Thr602Asn	Somatic		Capture	Illumina HiSeq	Phase_I	37730330	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339065	0.60963	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.22743	2.86;2.86;1.94;1.96	5.57	4.67	0.58626	.	0.164914	0.52532	D	0.000062	T	0.38374	0.1038	M	0.63843	1.955	0.49798	D	0.999829	D;D	0.89917	0.999;1.0	D;D	0.71414	0.933;0.973	T	0.11397	-1.0589	10	0.42905	T	0.14	-20.0983	8.5039	0.33175	0.0:0.8256:0.0:0.1744	.	471;602	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	N	602;602;424;471	ENSP00000366995:T602N;ENSP00000444411:T602N;ENSP00000437762:T424N;ENSP00000444804:T471N	ENSP00000366995:T602N	T	+	2	0	FRMPD1	37730330	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	3.228000	0.51270	1.362000	0.46000	0.561000	0.74099	ACC		FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
OMD	4958	hgsc.bcm.edu	37	9	95179145	95179145	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr9:95179145A>G	ENST00000375550.4	-	2	971	c.696T>C	c.(694-696)ccT>ccC	p.P232P	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	232					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TAAGTGAAGAAGGCAAACCAG	0.343			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	0			9											102.0	103.0	103.0					9																	95179145		2203	4300	6503	94218966	SO:0001819	synonymous_variant	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.696T>C	9.37:g.95179145A>G		Somatic		Capture	Illumina HiSeq	Phase_I	94218966	Q5TBF4	Silent	SNP	ENST00000375550.4	37	CCDS6696.1																																																																																				OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014	
NCBP1	4686	hgsc.bcm.edu	37	9	100431157	100431157	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr9:100431157C>T	ENST00000375147.3	+	21	2302	c.2046C>T	c.(2044-2046)gaC>gaT	p.D682D		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	682					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GAAGCAGTGACAGGAAAGACG	0.408																																					Ovarian(36;879 898 2893 44212 50307)												0			9											96.0	94.0	95.0					9																	100431157		2203	4300	6503	99470978	SO:0001819	synonymous_variant	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2046C>T	9.37:g.100431157C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99470978	B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	CCDS6728.1																																																																																				NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
TEX10	54881	hgsc.bcm.edu	37	9	103090223	103090223	+	Silent	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr9:103090223G>C	ENST00000374902.4	-	8	1823	c.1647C>G	c.(1645-1647)tcC>tcG	p.S549S	TEX10_ENST00000535814.1_Silent_p.S552S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	549						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CCAGCCAACGGGATAACACTT	0.373																																																	0			9											83.0	71.0	75.0					9																	103090223		2203	4300	6503	102130044	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1647C>G	9.37:g.103090223G>C		Somatic		Capture	Illumina HiSeq	Phase_I	102130044	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	CCDS6748.1																																																																																				TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
SMC2	10592	hgsc.bcm.edu	37	9	106889739	106889739	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr9:106889739A>G	ENST00000286398.7	+	20	3056	c.2768A>G	c.(2767-2769)gAg>gGg	p.E923G	SMC2_ENST00000374793.3_Missense_Mutation_p.E923G|SMC2_ENST00000374787.3_Missense_Mutation_p.E923G|SMC2_ENST00000303219.8_Missense_Mutation_p.E923G	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	923					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CATAAACGGGAGGCTGAAGAT	0.343																																																	0			9											131.0	123.0	126.0					9																	106889739		2203	4300	6503	105929560	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2768A>G	9.37:g.106889739A>G	ENSP00000286398:p.Glu923Gly	Somatic		Capture	Illumina HiSeq	Phase_I	105929560	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265727	0.59540	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.84	5.84	0.93424	RecF/RecN/SMC (1);	0.094159	0.64402	D	0.000001	T	0.80444	0.4624	M	0.82132	2.575	0.50813	D	0.999896	B	0.21309	0.054	B	0.30316	0.114	T	0.76650	-0.2881	10	0.33940	T	0.23	-9.511	15.0453	0.71822	1.0:0.0:0.0:0.0	.	923	O95347	SMC2_HUMAN	G	923	ENSP00000286398:E923G;ENSP00000363925:E923G;ENSP00000306152:E923G;ENSP00000363919:E923G	ENSP00000286398:E923G	E	+	2	0	SMC2	105929560	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.801000	0.75170	2.229000	0.72834	0.528000	0.53228	GAG		SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
CRYL1	51084	hgsc.bcm.edu	37	13	21006393	21006393	+	Missense_Mutation	SNP	G	G	A	rs200561765		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:21006393G>A	ENST00000298248.7	-	5	543	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000382812.1_Missense_Mutation_p.H139Y|MIR4499_ENST00000584834.1_RNA	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	161					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GTCTCCGGGTGGGGGACCAGC	0.592																																																	0			13						G	TYR/HIS	0,3996		0,0,1998	50.0	52.0	51.0		481	5.4	1.0	13		51	2,8300		0,2,4149	yes	missense	CRYL1	NM_015974.2	83	0,2,6147	AA,AG,GG		0.0241,0.0,0.0163	probably-damaging	161/320	21006393	2,12296	1998	4151	6149	19904393	SO:0001583	missense	51084			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.481C>T	13.37:g.21006393G>A	ENSP00000298248:p.His161Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	19904393	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577905	0.65878	0.0	2.41E-4	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.76839	-1.05;-1.05	5.43	5.43	0.79202	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.096084	0.64402	D	0.000001	D	0.88749	0.6521	M	0.83012	2.62	0.80722	D	1	D;D	0.69078	0.985;0.997	P;D	0.66497	0.907;0.944	D	0.89483	0.3751	10	0.56958	D	0.05	-37.8474	19.239	0.93875	0.0:0.0:1.0:0.0	.	35;161	B4DWM9;Q9Y2S2	.;CRYL1_HUMAN	Y	161;139	ENSP00000298248:H161Y;ENSP00000372262:H139Y	ENSP00000298248:H161Y	H	-	1	0	CRYL1	19904393	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.495000	0.90481	2.533000	0.85409	0.491000	0.48974	CAC		CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974	
FLT3	2322	hgsc.bcm.edu	37	13	28601271	28601271	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:28601271G>T	ENST00000241453.7	-	17	2242	c.2161C>A	c.(2161-2163)Cac>Aac	p.H721N	FLT3_ENST00000537084.1_Missense_Mutation_p.H721N|FLT3_ENST00000380982.4_Missense_Mutation_p.H721N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	721	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAAATTGTGTTCCTTGAAA	0.368			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13											176.0	180.0	179.0					13																	28601271		2203	4300	6503	27499271	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2161C>A	13.37:g.28601271G>T	ENSP00000241453:p.His721Asn	Somatic		Capture	Illumina HiSeq	Phase_I	27499271	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622181	0.66787	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77229	-1.01;-1.08;-0.82	6.03	5.17	0.71159	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	N	0.05554	-0.025	0.37573	D	0.919502	D;B	0.57571	0.98;0.038	P;B	0.53912	0.737;0.18	T	0.67585	-0.5633	10	0.02654	T	1	.	16.5522	0.84475	0.0:0.0:0.8684:0.1316	.	721;721	P36888-2;P36888	.;FLT3_HUMAN	N	721	ENSP00000241453:H721N;ENSP00000370369:H721N;ENSP00000438139:H721N	ENSP00000241453:H721N	H	-	1	0	FLT3	27499271	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.033000	0.49743	1.515000	0.48885	0.655000	0.94253	CAC		FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
MTUS2	23281	hgsc.bcm.edu	37	13	29600215	29600215	+	Silent	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:29600215C>A	ENST00000431530.3	+	1	1468	c.1410C>A	c.(1408-1410)ggC>ggA	p.G470G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	460						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCGGTTGGGCAGTGGGAATA	0.507																																																	0			13											79.0	84.0	82.0					13																	29600215		1951	4138	6089	28498215	SO:0001819	synonymous_variant	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1410C>A	13.37:g.29600215C>A		Somatic		Capture	Illumina HiSeq	Phase_I	28498215	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																				MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
BRCA2	675	hgsc.bcm.edu	37	13	32911778	32911778	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:32911778G>A	ENST00000380152.3	+	11	3519	c.3286G>A	c.(3286-3288)Gat>Aat	p.D1096N	BRCA2_ENST00000544455.1_Missense_Mutation_p.D1096N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1096					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCCAAGCAGGATTTTAATTC	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13											48.0	51.0	50.0					13																	32911778		2196	4289	6485	31809778	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3286G>A	13.37:g.32911778G>A	ENSP00000369497:p.Asp1096Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31809778	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	8.600	0.886605	0.17540	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00958	5.5;5.5	5.75	3.98	0.46160	.	0.541770	0.17997	N	0.155022	T	0.01320	0.0043	M	0.77103	2.36	0.09310	N	1	P	0.43169	0.8	B	0.30646	0.118	T	0.50346	-0.8839	10	0.62326	D	0.03	.	5.845	0.18661	0.1406:0.0:0.585:0.2744	.	1096	P51587	BRCA2_HUMAN	N	1096	ENSP00000369497:D1096N;ENSP00000439902:D1096N	ENSP00000369497:D1096N	D	+	1	0	BRCA2	31809778	0.003000	0.15002	0.148000	0.22405	0.207000	0.24258	0.158000	0.16422	0.742000	0.32697	-0.140000	0.14226	GAT		BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	hgsc.bcm.edu	37	13	32911780	32911780	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:32911780T>G	ENST00000380152.3	+	11	3521	c.3288T>G	c.(3286-3288)gaT>gaG	p.D1096E	BRCA2_ENST00000544455.1_Missense_Mutation_p.D1096E			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1096					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCAAGCAGGATTTTAATTCAA	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13											47.0	50.0	49.0					13																	32911780		2196	4290	6486	31809780	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3288T>G	13.37:g.32911780T>G	ENSP00000369497:p.Asp1096Glu	Somatic		Capture	Illumina HiSeq	Phase_I	31809780	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819127	0.32145	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00856	5.61;5.61	5.75	3.25	0.37280	.	0.541770	0.17997	N	0.155022	T	0.02533	0.0077	M	0.77103	2.36	0.09310	N	1	D	0.58268	0.982	P	0.50109	0.631	T	0.35822	-0.9773	10	0.72032	D	0.01	.	7.9242	0.29865	0.0:0.1778:0.0:0.8222	.	1096	P51587	BRCA2_HUMAN	E	1096	ENSP00000369497:D1096E;ENSP00000439902:D1096E	ENSP00000369497:D1096E	D	+	3	2	BRCA2	31809780	0.024000	0.19004	0.208000	0.23602	0.520000	0.34377	0.338000	0.19858	0.938000	0.37419	0.533000	0.62120	GAT		BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
PDS5B	23047	hgsc.bcm.edu	37	13	33241960	33241960	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:33241960T>C	ENST00000315596.10	+	7	870	c.684T>C	c.(682-684)gcT>gcC	p.A228A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	228					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGCTCAAGCTATTGAGCCAT	0.303																																																	0			13											53.0	50.0	51.0					13																	33241960		1821	4066	5887	32139960	SO:0001819	synonymous_variant	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.684T>C	13.37:g.33241960T>C		Somatic		Capture	Illumina HiSeq	Phase_I	32139960	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																				PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
AKAP11	11215	hgsc.bcm.edu	37	13	42882668	42882668	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:42882668C>A	ENST00000025301.2	+	9	5371	c.5196C>A	c.(5194-5196)agC>agA	p.S1732R		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1732	Ser-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTGATGACAGCACTGGTAGCT	0.363																																																	0			13											123.0	115.0	118.0					13																	42882668		2203	4300	6503	41780668	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5196C>A	13.37:g.42882668C>A	ENSP00000025301:p.Ser1732Arg	Somatic		Capture	Illumina HiSeq	Phase_I	41780668	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616296	0.66672	.	.	ENSG00000023516	ENST00000025301	T	0.38240	1.15	5.3	1.58	0.23477	.	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	M	0.74258	2.255	0.43724	D	0.9962	D	0.89917	1.0	D	0.74348	0.983	T	0.55042	-0.8202	10	0.87932	D	0	.	9.4858	0.38928	0.0:0.6454:0.0:0.3546	.	1732	Q9UKA4	AKA11_HUMAN	R	1732	ENSP00000025301:S1732R	ENSP00000025301:S1732R	S	+	3	2	AKAP11	41780668	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	0.819000	0.27308	0.315000	0.23110	0.650000	0.86243	AGC		AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
PCDH17	27253	hgsc.bcm.edu	37	13	58298928	58298928	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:58298928G>A	ENST00000377918.3	+	4	3006	c.2980G>A	c.(2980-2982)Ggg>Agg	p.G994R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	994					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAATCCCACTGGGAAAAAGAC	0.418																																					Melanoma(72;952 1291 1619 12849 33676)												0			13											107.0	104.0	105.0					13																	58298928		2203	4300	6503	57196929	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2980G>A	13.37:g.58298928G>A	ENSP00000367151:p.Gly994Arg	Somatic		Capture	Illumina HiSeq	Phase_I	57196929	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324683	0.60634	.	.	ENSG00000118946	ENST00000377918	T	0.49720	0.77	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	L	0.40543	1.245	0.58432	D	0.999999	D	0.54047	0.964	P	0.49301	0.606	T	0.33828	-0.9853	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	994	O14917	PCD17_HUMAN	R	994	ENSP00000367151:G994R	.	G	+	1	0	PCDH17	57196929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.597000	0.82733	2.885000	0.99019	0.655000	0.94253	GGG		PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
DIAPH3	81624	hgsc.bcm.edu	37	13	60584697	60584697	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:60584697G>A	ENST00000400324.4	-	8	1098	c.878C>T	c.(877-879)tCt>tTt	p.S293F	DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Missense_Mutation_p.S247F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S293F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S293F|DIAPH3_ENST00000400319.1_Missense_Mutation_p.S223F|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S282F|DIAPH3-AS1_ENST00000435636.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	293	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCATACCGCAGAGAGAAGTTT	0.373																																																	0			13											47.0	47.0	47.0					13																	60584697		1855	4100	5955	59482698	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.878C>T	13.37:g.60584697G>A	ENSP00000383178:p.Ser293Phe	Somatic		Capture	Illumina HiSeq	Phase_I	59482698	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792342	0.90453	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.81	5.81	0.92471	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.116094	0.64402	D	0.000010	D	0.96030	0.8707	M	0.84433	2.695	0.54753	D	0.999985	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.95968	0.8967	10	0.72032	D	0.01	.	19.6863	0.95981	0.0:0.0:1.0:0.0	.	223;247;282;30;293	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	F	293;293;282;247;223;282;223;247;293;30;293	ENSP00000383178:S293F;ENSP00000383184:S293F;ENSP00000367141:S282F;ENSP00000383173:S223F;ENSP00000383174:S247F;ENSP00000267215:S293F	ENSP00000267214:S30F	S	-	2	0	DIAPH3	59482698	1.000000	0.71417	0.933000	0.37362	0.976000	0.68499	9.393000	0.97256	2.746000	0.94184	0.591000	0.81541	TCT		DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
RNF219	79596	hgsc.bcm.edu	37	13	79190700	79190700	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:79190700T>C	ENST00000282003.6	-	6	1254	c.1196A>G	c.(1195-1197)cAg>cGg	p.Q399R	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	399							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGTACTGAGCTGAAGGCAACT	0.423																																																	0			13											126.0	116.0	119.0					13																	79190700		2203	4300	6503	78088701	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1196A>G	13.37:g.79190700T>C	ENSP00000282003:p.Gln399Arg	Somatic		Capture	Illumina HiSeq	Phase_I	78088701	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000691	0.54254	.	.	ENSG00000152193	ENST00000282003	T	0.14266	2.52	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.34279	0.0892	M	0.61703	1.905	0.41118	D	0.985797	D	0.76494	0.999	D	0.66084	0.941	T	0.02437	-1.1159	10	0.51188	T	0.08	-21.6407	16.3469	0.83138	0.0:0.0:0.0:1.0	.	399	Q5W0B1	RN219_HUMAN	R	399	ENSP00000282003:Q399R	ENSP00000282003:Q399R	Q	-	2	0	RNF219	78088701	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.078000	0.50096	2.263000	0.75096	0.529000	0.55759	CAG		RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
SLITRK5	26050	hgsc.bcm.edu	37	13	88328396	88328396	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:88328396C>A	ENST00000325089.6	+	2	972	c.753C>A	c.(751-753)gaC>gaA	p.D251E	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	251	LRRCT 1.				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)					ATTGGTTGGACAGCATCTCCT	0.512																																																	0			13											106.0	106.0	106.0					13																	88328396		2203	4300	6503	87126397	SO:0001583	missense	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.753C>A	13.37:g.88328396C>A	ENSP00000366283:p.Asp251Glu	Somatic		Capture	Illumina HiSeq	Phase_I	87126397	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.365106	0.01235	.	.	ENSG00000165300	ENST00000325089	T	0.51071	0.72	5.61	4.77	0.60923	Cysteine-rich flanking region, C-terminal (1);	0.113102	0.64402	D	0.000016	T	0.16171	0.0389	N	0.00483	-1.445	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.10847	-1.0612	9	.	.	.	-22.3528	12.2237	0.54447	0.0:0.9175:0.0:0.0825	.	251	O94991	SLIK5_HUMAN	E	251	ENSP00000366283:D251E	.	D	+	3	2	SLITRK5	87126397	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.839000	0.48207	1.382000	0.46385	-0.339000	0.08088	GAC		SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3		
DCT	1638	hgsc.bcm.edu	37	13	95112465	95112465	+	Silent	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:95112465C>A	ENST00000377028.5	-	6	1472	c.1059G>T	c.(1057-1059)ggG>ggT	p.G353G	DCT_ENST00000446125.1_Silent_p.G353G|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	353					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTTTATCAAACCCTTCCAAAG	0.408																																																	0			13											75.0	71.0	72.0					13																	95112465		2203	4300	6503	93910466	SO:0001819	synonymous_variant	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1059G>T	13.37:g.95112465C>A		Somatic		Capture	Illumina HiSeq	Phase_I	93910466	Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																				DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
COL4A2	1284	hgsc.bcm.edu	37	13	111077128	111077128	+	Silent	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr13:111077128A>C	ENST00000360467.5	+	5	534	c.228A>C	c.(226-228)ggA>ggC	p.G76G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	76					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCCACCAGGATTACAAGGAT	0.572																																																	0			13											77.0	86.0	83.0					13																	111077128		1905	4107	6012	109875129	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.228A>C	13.37:g.111077128A>C		Somatic		Capture	Illumina HiSeq	Phase_I	109875129	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
SFMBT2	57713	hgsc.bcm.edu	37	10	7318857	7318857	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:7318857A>C	ENST00000361972.4	-	7	957	c.867T>G	c.(865-867)ttT>ttG	p.F289L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.F289L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	289					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATCTTACCTTAAACACTTCCA	0.398																																																	0			10											138.0	132.0	134.0					10																	7318857		2203	4300	6503	7358863	SO:0001583	missense	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.867T>G	10.37:g.7318857A>C	ENSP00000355109:p.Phe289Leu	Somatic		Capture	Illumina HiSeq	Phase_I	7358863	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582875	0.65992	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.51325	0.71;0.71	5.69	2.4	0.29515	.	0.045483	0.85682	D	0.000000	T	0.60958	0.2309	M	0.72894	2.215	0.80722	D	1	P	0.50710	0.938	D	0.63283	0.913	T	0.58951	-0.7545	10	0.87932	D	0	.	8.2246	0.31562	0.6414:0.0:0.3586:0.0	.	289	Q5VUG0	SMBT2_HUMAN	L	289	ENSP00000355109:F289L;ENSP00000380353:F289L	ENSP00000355109:F289L	F	-	3	2	SFMBT2	7358863	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	3.165000	0.50778	0.109000	0.17891	0.533000	0.62120	TTT		SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
CAMK1D	57118	hgsc.bcm.edu	37	10	12856299	12856299	+	Silent	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:12856299C>T	ENST00000378847.3	+	7	1084	c.747C>T	c.(745-747)tcC>tcT	p.S249S	CAMK1D_ENST00000378845.1_Silent_p.S249S	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ATGACATCTCCGACTCTGGTA	0.582																																																	0			10											80.0	69.0	73.0					10																	12856299		2203	4300	6503	12896305	SO:0001819	synonymous_variant	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.747C>T	10.37:g.12856299C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12896305	B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	37	CCDS7091.1																																																																																				CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	
ANKRD26	22852	hgsc.bcm.edu	37	10	27317855	27317855	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:27317855T>C	ENST00000376087.4	-	27	4063	c.3898A>G	c.(3898-3900)Aag>Gag	p.K1300E	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1316E|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K857E	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1299					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACTTTTAACTTGGCATTATCT	0.299																																																	0			10											102.0	93.0	96.0					10																	27317855		1789	4055	5844	27357861	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3898A>G	10.37:g.27317855T>C	ENSP00000365255:p.Lys1300Glu	Somatic		Capture	Illumina HiSeq	Phase_I	27357861	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	1.842	-0.467112	0.04476	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.77098	-1.07;-1.07;-1.07	4.69	-4.57	0.03421	.	0.512997	0.16736	N	0.201628	T	0.53965	0.1829	N	0.19112	0.55	0.26002	N	0.982102	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.11329	0.006;0.003;0.003	T	0.38802	-0.9644	10	0.19147	T	0.46	.	6.995	0.24777	0.0:0.4243:0.1305:0.4452	.	1300;1299;1316	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	E	857;1300;1316	ENSP00000365238:K857E;ENSP00000365255:K1300E;ENSP00000405112:K1316E	ENSP00000365238:K857E	K	-	1	0	ANKRD26	27357861	0.999000	0.42202	0.005000	0.12908	0.020000	0.10135	0.811000	0.27198	-1.118000	0.02961	-0.386000	0.06593	AAG		ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
MMRN2	79812	hgsc.bcm.edu	37	10	88703039	88703039	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:88703039A>T	ENST00000372027.5	-	6	1823	c.1502T>A	c.(1501-1503)cTg>cAg	p.L501Q	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	501					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GATGACGTCCAGGTCTAAATA	0.642																																																	0			10											62.0	57.0	59.0					10																	88703039		2203	4300	6503	88693019	SO:0001583	missense	79812			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1502T>A	10.37:g.88703039A>T	ENSP00000361097:p.Leu501Gln	Somatic		Capture	Illumina HiSeq	Phase_I	88693019	Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.691975	0.30052	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.70749	-0.51	5.57	0.658	0.17855	.	1.098760	0.07110	N	0.842071	T	0.75072	0.3800	M	0.63843	1.955	0.09310	N	1	D;P;D	0.56035	0.974;0.93;0.966	P;P;P	0.54401	0.694;0.564;0.751	T	0.60949	-0.7161	10	0.26408	T	0.33	-1.0019	9.2644	0.37632	0.6171:0.0:0.3829:0.0	.	279;440;501	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	Q	501;279	ENSP00000361097:L501Q	ENSP00000361097:L501Q	L	-	2	0	MMRN2	88693019	0.047000	0.20315	0.000000	0.03702	0.151000	0.21798	1.151000	0.31651	-0.119000	0.11830	0.379000	0.24179	CTG		MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756	
PTEN	5728	hgsc.bcm.edu	37	10	89725211	89725211	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:89725211A>G	ENST00000371953.3	+	9	2551	c.1194A>G	c.(1192-1194)acA>acG	p.T398T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	398					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCAGCATACACAAATTACAA	0.313		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	47	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)	prostate(16)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											16.0	17.0	16.0					10																	89725211		2161	4272	6433	89715191	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1194A>G	10.37:g.89725211A>G		Somatic		Capture	Illumina HiSeq	Phase_I	89715191	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CHUK	1147	hgsc.bcm.edu	37	10	101978562	101978562	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:101978562T>C	ENST00000370397.7	-	8	796	c.710A>G	c.(709-711)aAg>aGg	p.K237R		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTTTGGATCCTTCTTCTTAAT	0.323																																					Ovarian(159;52 1904 10536 35305 37148)												0			10											118.0	111.0	113.0					10																	101978562		2203	4300	6503	101968552	SO:0001583	missense	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.710A>G	10.37:g.101978562T>C	ENSP00000359424:p.Lys237Arg	Somatic		Capture	Illumina HiSeq	Phase_I	101968552	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582282	0.86748	.	.	ENSG00000213341	ENST00000370397	T	0.65549	-0.16	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.79470	-0.1790	10	0.72032	D	0.01	-16.8521	14.3262	0.66523	0.0:0.0:0.0:1.0	.	237	O15111	IKKA_HUMAN	R	237	ENSP00000359424:K237R	ENSP00000359424:K237R	K	-	2	0	CHUK	101968552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.661000	0.83786	2.263000	0.75096	0.533000	0.62120	AAG		CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
NT5C2	22978	hgsc.bcm.edu	37	10	104865521	104865521	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:104865521T>G	ENST00000404739.3	-	4	354	c.331A>C	c.(331-333)Aaa>Caa	p.K111Q	NT5C2_ENST00000343289.5_Missense_Mutation_p.K111Q|NT5C2_ENST00000423468.2_Missense_Mutation_p.K82Q|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	111					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GCATCGACTTTCAAAAGATTT	0.358																																																	0			10											140.0	129.0	133.0					10																	104865521		2203	4300	6503	104855511	SO:0001583	missense	22978			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.331A>C	10.37:g.104865521T>G	ENSP00000383960:p.Lys111Gln	Somatic		Capture	Illumina HiSeq	Phase_I	104855511	B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	T	32	5.120773	0.94385	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	6.17	6.17	0.99709	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80765	-0.1236	10	0.87932	D	0	-23.6324	16.8222	0.85835	0.0:0.0:0.0:1.0	.	82;111	B7Z382;P49902	.;5NTC_HUMAN	Q	111;111;82;111;34;59	ENSP00000339479:K111Q;ENSP00000383960:K111Q;ENSP00000392236:K82Q;ENSP00000396468:K111Q;ENSP00000411330:K34Q	ENSP00000339479:K111Q	K	-	1	0	NT5C2	104855511	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAA		NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	
PNLIPRP3	119548	hgsc.bcm.edu	37	10	118196356	118196356	+	Silent	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:118196356A>C	ENST00000369230.3	+	2	329	c.183A>C	c.(181-183)atA>atC	p.I61I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	61					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTACACTATACACAATCCCA	0.398																																																	0			10											169.0	155.0	160.0					10																	118196356		2203	4300	6503	118186346	SO:0001819	synonymous_variant	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.183A>C	10.37:g.118196356A>C		Somatic		Capture	Illumina HiSeq	Phase_I	118186346		Silent	SNP	ENST00000369230.3	37	CCDS31292.1																																																																																				PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	
MKI67	4288	hgsc.bcm.edu	37	10	129905967	129905967	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr10:129905967T>A	ENST00000368654.3	-	13	4512	c.4137A>T	c.(4135-4137)gaA>gaT	p.E1379D	MKI67_ENST00000368653.3_Missense_Mutation_p.E1019D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1379	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTCTGCTGATTCTGGTGGAG	0.507																																																	0			10											178.0	167.0	171.0					10																	129905967		2203	4300	6503	129795957	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4137A>T	10.37:g.129905967T>A	ENSP00000357643:p.Glu1379Asp	Somatic		Capture	Illumina HiSeq	Phase_I	129795957	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780659	0.31502	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02916	4.11;4.11	4.25	-0.93	0.10441	.	.	.	.	.	T	0.05456	0.0144	L	0.51422	1.61	0.09310	N	1	B;B;D	0.57257	0.001;0.001;0.979	B;B;P	0.57846	0.006;0.006;0.828	T	0.35992	-0.9766	9	0.25751	T	0.34	.	2.9048	0.05718	0.312:0.1792:0.0:0.5088	.	1378;1019;1379	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	1379;1019;1378	ENSP00000357643:E1379D;ENSP00000357642:E1019D	ENSP00000357642:E1019D	E	-	3	2	MKI67	129795957	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.566000	0.00917	-0.244000	0.09639	-0.368000	0.07277	GAA		MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
PRDM9	56979	hgsc.bcm.edu	37	5	23527633	23527633	+	Silent	SNP	C	C	G	rs574001617		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:23527633C>G	ENST00000296682.3	+	11	2618	c.2436C>G	c.(2434-2436)ggC>ggG	p.G812G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	812					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGGGCGGGGCTTTAGCAATA	0.572										HNSCC(3;0.000094)																																							0			5											36.0	48.0	44.0					5																	23527633		2141	4268	6409	23563390	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2436C>G	5.37:g.23527633C>G		Somatic		Capture	Illumina HiSeq	Phase_I	23563390	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
CDH9	1007	hgsc.bcm.edu	37	5	26906229	26906229	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:26906229A>C	ENST00000231021.4	-	5	822	c.650T>G	c.(649-651)aTa>aGa	p.I217R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGCAGTTTTTATTATGCCTTT	0.373																																					Melanoma(8;187 585 15745 40864 52829)												0			5											165.0	150.0	155.0					5																	26906229		2203	4300	6503	26941986	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.650T>G	5.37:g.26906229A>C	ENSP00000231021:p.Ile217Arg	Somatic		Capture	Illumina HiSeq	Phase_I	26941986	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438345	0.83885	.	.	ENSG00000113100	ENST00000231021	T	0.70869	-0.52	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.046323	0.85682	D	0.000000	D	0.90219	0.6942	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93750	0.7058	9	.	.	.	.	14.7109	0.69232	1.0:0.0:0.0:0.0	.	217	Q9ULB4	CADH9_HUMAN	R	217	ENSP00000231021:I217R	.	I	-	2	0	CDH9	26941986	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.255000	0.95524	2.216000	0.71823	0.528000	0.53228	ATA		CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
SKP2	6502	hgsc.bcm.edu	37	5	36166732	36166732	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:36166732A>G	ENST00000274255.6	+	4	700	c.504A>G	c.(502-504)tcA>tcG	p.S168S	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Silent_p.S168S|SKP2_ENST00000546211.1_5'UTR	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	168					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCCACGATCATTTATGGACC	0.443																																																	0			5											94.0	87.0	89.0					5																	36166732		2203	4300	6503	36202489	SO:0001819	synonymous_variant	6502			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.504A>G	5.37:g.36166732A>G		Somatic		Capture	Illumina HiSeq	Phase_I	36202489	A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	CCDS3916.1																																																																																				SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983	
EGFLAM	133584	hgsc.bcm.edu	37	5	38463081	38463081	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:38463081G>A	ENST00000354891.3	+	22	3213	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q	EGFLAM_ENST00000397202.2_Missense_Mutation_p.R314Q|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R948Q|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R91Q|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R91Q|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R91Q|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R714Q	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	956	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCATGATGCGGCAGCTTAAC	0.468																																					Colon(62;485 1295 3347 17454)												0			5											135.0	115.0	122.0					5																	38463081		2203	4300	6503	38498838	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2867G>A	5.37:g.38463081G>A	ENSP00000346964:p.Arg956Gln	Somatic		Capture	Illumina HiSeq	Phase_I	38498838	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049758	0.93740	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.83741	0.5320	L	0.37466	1.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.968	D;D;D;P	0.77557	0.951;0.984;0.99;0.553	D	0.84268	0.0487	10	0.51188	T	0.08	-2.2619	19.0362	0.92980	0.0:0.0:1.0:0.0	.	314;714;956;948	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	Q	956;948;714;314;714;91;91;91;91	ENSP00000346964:R956Q;ENSP00000313084:R948Q;ENSP00000337607:R714Q;ENSP00000380385:R314Q;ENSP00000380393:R91Q;ENSP00000425579:R91Q;ENSP00000427228:R91Q;ENSP00000423228:R91Q	ENSP00000313084:R948Q	R	+	2	0	EGFLAM	38498838	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	6.124000	0.71620	2.495000	0.84180	0.655000	0.94253	CGG		EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
GPBP1	65056	hgsc.bcm.edu	37	5	56546943	56546943	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:56546943T>C	ENST00000506184.2	+	10	2240	c.1135T>C	c.(1135-1137)Tca>Cca	p.S379P	GPBP1_ENST00000264779.6_Missense_Mutation_p.S386P|GPBP1_ENST00000511209.1_Missense_Mutation_p.S371P|GPBP1_ENST00000454432.2_Missense_Mutation_p.S399P|GPBP1_ENST00000538707.1_Missense_Mutation_p.S386P|GPBP1_ENST00000424459.3_Missense_Mutation_p.S399P|GPBP1_ENST00000514387.2_Missense_Mutation_p.S208P			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	379					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TGATGTTCTTTCAAGTTCACT	0.373																																																	0			5											107.0	98.0	101.0					5																	56546943		2203	4300	6503	56582700	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1135T>C	5.37:g.56546943T>C	ENSP00000421202:p.Ser379Pro	Somatic		Capture	Illumina HiSeq	Phase_I	56582700	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.906226	0.92107	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78407	0.4278	M	0.68317	2.08	0.51482	D	0.999921	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.994;0.997;0.996;0.997	T	0.80296	-0.1442	10	0.87932	D	0	-9.5324	16.607	0.84832	0.0:0.0:0.0:1.0	.	399;386;371;379	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	P	399;208;379;399;371;386;386	ENSP00000401596:S399P;ENSP00000421709:S208P;ENSP00000421202:S379P;ENSP00000403522:S399P;ENSP00000422337:S371P;ENSP00000264779:S386P;ENSP00000440090:S386P	ENSP00000264779:S386P	S	+	1	0	GPBP1	56582700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.148000	0.71788	2.319000	0.78375	0.523000	0.50628	TCA		GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913	
IPO11	51194	hgsc.bcm.edu	37	5	61747626	61747626	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:61747626C>G	ENST00000325324.6	+	5	551	c.382C>G	c.(382-384)Cta>Gta	p.L128V	IPO11_ENST00000409296.3_Missense_Mutation_p.L168V|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	128					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTGGCCTGAACTAATTCCCAC	0.398																																																	0			5											105.0	95.0	99.0					5																	61747626		2203	4300	6503	61783383	SO:0001583	missense	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.382C>G	5.37:g.61747626C>G	ENSP00000316651:p.Leu128Val	Somatic		Capture	Illumina HiSeq	Phase_I	61783383	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834592	0.71373	.	.	ENSG00000086200	ENST00000514647;ENST00000325324;ENST00000506200;ENST00000409296	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.43	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82575	-0.0389	10	0.51188	T	0.08	.	11.595	0.50968	0.0:0.8558:0.0:0.1442	.	168;128	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	V	128;128;128;168	ENSP00000427129:L128V;ENSP00000316651:L128V;ENSP00000427274:L128V;ENSP00000386992:L168V	ENSP00000316651:L128V	L	+	1	2	IPO11	61783383	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.680000	0.46918	0.666000	0.31087	-0.142000	0.14014	CTA		IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
GFM2	84340	hgsc.bcm.edu	37	5	74037379	74037379	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:74037379T>C	ENST00000296805.3	-	11	1362	c.905A>G	c.(904-906)aAt>aGt	p.N302S	GFM2_ENST00000509430.1_Missense_Mutation_p.N302S|GFM2_ENST00000427854.2_Missense_Mutation_p.N302S|GFM2_ENST00000345239.2_Missense_Mutation_p.N302S	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAAATCAAAATTCTCACTAAA	0.299																																																	0			5											43.0	45.0	45.0					5																	74037379		2198	4286	6484	74073135	SO:0001583	missense	84340			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.905A>G	5.37:g.74037379T>C	ENSP00000296805:p.Asn302Ser	Somatic		Capture	Illumina HiSeq	Phase_I	74073135		Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636438	0.47049	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000509097	T;T;T;T;T	0.72835	0.12;0.25;0.12;-0.69;-0.01	5.74	4.53	0.55603	Protein synthesis factor, GTP-binding (1);	0.174215	0.64402	D	0.000010	T	0.62109	0.2401	N	0.20357	0.565	0.54753	D	0.999982	P;B;P;P;B	0.48764	0.915;0.013;0.853;0.911;0.017	P;B;B;P;B	0.47430	0.487;0.017;0.392;0.547;0.028	T	0.67106	-0.5754	10	0.56958	D	0.05	-16.358	13.0752	0.59083	0.0:0.0:0.1336:0.8664	.	302;302;302;302;302	F5H687;Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;.;RRF2M_HUMAN	S	302;302;302;302;302;260	ENSP00000296805:N302S;ENSP00000296804:N302S;ENSP00000427004:N302S;ENSP00000405808:N302S;ENSP00000421717:N260S	ENSP00000296805:N302S	N	-	2	0	GFM2	74073135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.045000	0.71020	2.176000	0.68965	0.460000	0.39030	AAT		GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
AGGF1	55109	hgsc.bcm.edu	37	5	76335452	76335452	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:76335452C>A	ENST00000312916.7	+	5	1160	c.778C>A	c.(778-780)Cct>Act	p.P260T		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	260					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGATTTGCAACCTTATCCGAC	0.333																																																	0			5											80.0	78.0	78.0					5																	76335452		2203	4298	6501	76371208	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.778C>A	5.37:g.76335452C>A	ENSP00000316109:p.Pro260Thr	Somatic		Capture	Illumina HiSeq	Phase_I	76371208	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944594	0.34283	.	.	ENSG00000164252	ENST00000312916	D	0.89746	-2.56	5.11	0.96	0.19631	.	0.405345	0.27927	N	0.017290	T	0.77054	0.4074	L	0.31926	0.97	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.62946	-0.6746	10	0.37606	T	0.19	-13.4083	0.4511	0.00501	0.1941:0.3264:0.1643:0.3151	.	260	Q8N302	AGGF1_HUMAN	T	260	ENSP00000316109:P260T	ENSP00000316109:P260T	P	+	1	0	AGGF1	76371208	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	1.686000	0.37669	0.177000	0.19895	0.585000	0.79938	CCT		AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046	
SLCO6A1	133482	hgsc.bcm.edu	37	5	101748715	101748715	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:101748715A>G	ENST00000506729.1	-	9	1776	c.1605T>C	c.(1603-1605)tcT>tcC	p.S535S	SLCO6A1_ENST00000379807.3_Silent_p.S535S|SLCO6A1_ENST00000379810.1_Silent_p.S282S|SLCO6A1_ENST00000513675.1_Silent_p.S282S|SLCO6A1_ENST00000389019.3_Silent_p.S473S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	535	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTGTGCTTTAGAATATGTAC	0.234																																																	0			5											20.0	20.0	20.0					5																	101748715		2185	4287	6472	101776614	SO:0001819	synonymous_variant	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1605T>C	5.37:g.101748715A>G		Somatic		Capture	Illumina HiSeq	Phase_I	101776614	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	CCDS34206.1																																																																																				SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
APC	324	hgsc.bcm.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*			P25054	APC_HUMAN	adenomatous polyposis coli	1114	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.R1114*(30)|p.?(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)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_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"""	31	Substitution - Nonsense(30)|Unknown(1)	large_intestine(29)|ovary(1)|skin(1)	5	GRCh37	CM920048	APC	M	rs121913331						90.0	82.0	85.0					5																	112174631		2202	4300	6502	112202530	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.3340C>T	5.37:g.112174631C>T	ENSP00000413133:p.Arg1114*	Somatic		Capture	Illumina HiSeq	Phase_I	112202530	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.950292	0.97956	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	4.88	0.63580	.	0.190581	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7869	14.0911	0.64990	0.3279:0.6721:0.0:0.0	.	.	.	.	X	1114;1096;1114;1114;1114	.	ENSP00000257430:R1114X	R	+	1	2	APC	112202530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.208000	0.42797	1.423000	0.47198	0.655000	0.94253	CGA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112174684	112174684	+	Missense_Mutation	SNP	A	A	C	rs545574962		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:112174684A>C	ENST00000457016.1	+	16	3773	c.3393A>C	c.(3391-3393)caA>caC	p.Q1131H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.Q1131H|APC_ENST00000508376.2_Missense_Mutation_p.Q1131H			P25054	APC_HUMAN	adenomatous polyposis coli	1131	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|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.?(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)		CTTTGTGTCAAGAAGATGACT	0.383		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"""	1	Unknown(1)	skin(1)	5											73.0	67.0	69.0					5																	112174684		2202	4300	6502	112202583	SO:0001583	missense	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.3393A>C	5.37:g.112174684A>C	ENSP00000413133:p.Gln1131His	Somatic		Capture	Illumina HiSeq	Phase_I	112202583	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	8.557	0.876937	0.17395	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93859	-2.57;-3.3;-2.57;-2.57;-2.75	5.74	0.223	0.15292	.	0.234286	0.44285	D	0.000463	T	0.81683	0.4874	N	0.12182	0.205	0.37341	D	0.910387	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.67217	-0.5726	10	0.17832	T	0.49	-8.3597	6.2467	0.20823	0.4147:0.0:0.419:0.1663	.	1133;1131	Q4LE70;P25054	.;APC_HUMAN	H	1131;1113;1131;1131;1131	ENSP00000413133:Q1131H;ENSP00000423224:Q1113H;ENSP00000257430:Q1131H;ENSP00000427089:Q1131H;ENSP00000423828:Q1131H	ENSP00000257430:Q1131H	Q	+	3	2	APC	112202583	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.724000	0.25954	0.085000	0.17107	-0.255000	0.11280	CAA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175248	112175248	+	Silent	SNP	T	T	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:112175248T>C	ENST00000457016.1	+	16	4337	c.3957T>C	c.(3955-3957)ccT>ccC	p.P1319P	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.P1319P|APC_ENST00000508376.2_Silent_p.P1319P			P25054	APC_HUMAN	adenomatous polyposis coli	1319	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.V1320fs*12(1)|p.V1320fs*1(1)|p.K1192fs*3(1)|p.?(1)|p.A1316fs*9(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)		CTGAAGATCCTGTGAGCGAAG	0.443		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"""	5	Deletion - Frameshift(3)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(3)|soft_tissue(1)|skin(1)	5											61.0	62.0	62.0					5																	112175248		2202	4300	6502	112203147	SO:0001819	synonymous_variant	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.3957T>C	5.37:g.112175248T>C		Somatic		Capture	Illumina HiSeq	Phase_I	112203147	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175480	112175480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:112175480G>T	ENST00000457016.1	+	16	4569	c.4189G>T	c.(4189-4191)Gag>Tag	p.E1397*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1397*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1397*			P25054	APC_HUMAN	adenomatous polyposis coli	1397	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.R1399fs*9(18)|p.E1397*(8)|p.Y1376fs*41(1)|p.?(1)|p.K1192fs*3(1)|p.E1397fs*19(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)		TGATAGTTTTGAGAGTCGTTC	0.473		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"""	30	Deletion - Frameshift(20)|Substitution - Nonsense(8)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(28)|soft_tissue(1)|skin(1)	5	GRCh37	CM992136	APC	M							104.0	98.0	100.0					5																	112175480		2202	4300	6502	112203379	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.4189G>T	5.37:g.112175480G>T	ENSP00000413133:p.Glu1397*	Somatic		Capture	Illumina HiSeq	Phase_I	112203379	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.742411	0.98937	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.111909	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.9405	20.4898	0.99202	0.0:0.0:1.0:0.0	.	.	.	.	X	1397	.	.	E	+	1	0	APC	112203379	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.281000	0.78621	2.941000	0.99782	0.655000	0.94253	GAG		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SNCAIP	9627	hgsc.bcm.edu	37	5	121758612	121758612	+	Silent	SNP	G	G	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:121758612G>A	ENST00000261368.8	+	4	442	c.180G>A	c.(178-180)acG>acA	p.T60T	SNCAIP_ENST00000379533.2_Silent_p.T107T|SNCAIP_ENST00000379536.2_Silent_p.T60T|SNCAIP_ENST00000503116.2_Silent_p.T107T|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261367.7_Silent_p.T107T|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000542191.1_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	60					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTACAAACACGCAAAAGCCCA	0.413																																																	0			5											65.0	66.0	65.0					5																	121758612		2203	4300	6503	121786511	SO:0001819	synonymous_variant	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.180G>A	5.37:g.121758612G>A		Somatic		Capture	Illumina HiSeq	Phase_I	121786511	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	CCDS4131.1																																																																																				SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
PCDHGA9	56107	hgsc.bcm.edu	37	5	140783404	140783404	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:140783404T>G	ENST00000573521.1	+	1	885	c.885T>G	c.(883-885)aaT>aaG	p.N295K	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	295	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCTTAATGAAAATACTG	0.368																																																	0			5											93.0	96.0	95.0					5																	140783404		1821	4090	5911	140763588	SO:0001583	missense	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.885T>G	5.37:g.140783404T>G	ENSP00000460274:p.Asn295Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140763588	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																				PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921	
ARSI	340075	hgsc.bcm.edu	37	5	149678174	149678174	+	Splice_Site	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:149678174A>G	ENST00000328668.7	-	2	892	c.313T>C	c.(313-315)Tac>Cac	p.Y105H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	105					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATCTGGTACCTGGTGGGG	0.612																																																	0			5											49.0	55.0	53.0					5																	149678174		2181	4275	6456	149658367	SO:0001630	splice_region_variant	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.312-1T>C	5.37:g.149678174A>G		Somatic		Capture	Illumina HiSeq	Phase_I	149658367	A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387005	0.61956	.	.	ENSG00000183876	ENST00000328668	D	0.97256	-4.31	4.41	4.41	0.53225	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	M	0.61387	1.9	0.80722	D	1	P	0.37398	0.593	B	0.44163	0.443	D	0.96395	0.9292	10	0.51188	T	0.08	.	13.8417	0.63444	1.0:0.0:0.0:0.0	.	105	Q5FYB1	ARSI_HUMAN	H	105	ENSP00000333395:Y105H	ENSP00000333395:Y105H	Y	-	1	0	ARSI	149658367	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.139000	0.94554	1.860000	0.53959	0.459000	0.35465	TAC		ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301	Missense_Mutation
FAT2	2196	hgsc.bcm.edu	37	5	150946372	150946372	+	Silent	SNP	A	A	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:150946372A>G	ENST00000261800.5	-	1	2133	c.2121T>C	c.(2119-2121)atT>atC	p.I707I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	707					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)			TGTAATGATTAATCTGATATG	0.473																																																	0			5											107.0	109.0	108.0					5																	150946372		2203	4300	6503	150926565	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.2121T>C	5.37:g.150946372A>G		Somatic		Capture	Illumina HiSeq	Phase_I	150926565	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
GRIA1	2890	hgsc.bcm.edu	37	5	153026596	153026596	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:153026596C>T	ENST00000285900.5	+	3	672	c.329C>T	c.(328-330)aCg>aTg	p.T110M	GRIA1_ENST00000521843.2_Missense_Mutation_p.T41M|GRIA1_ENST00000448073.4_Missense_Mutation_p.T120M|GRIA1_ENST00000518783.1_Missense_Mutation_p.T120M|GRIA1_ENST00000340592.5_Missense_Mutation_p.T110M|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.T110M(3)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGCTTCATTACGCCGAGCTTT	0.502																																																	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	5											170.0	154.0	160.0					5																	153026596		2203	4300	6503	153006789	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.329C>T	5.37:g.153026596C>T	ENSP00000285900:p.Thr110Met	Somatic		Capture	Illumina HiSeq	Phase_I	153006789	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669632	0.88348	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.047603	0.85682	D	0.000000	D	0.92100	0.7496	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.981	D	0.92611	0.6099	10	0.87932	D	0	.	18.489	0.90839	0.0:1.0:0.0:0.0	.	120;120;120;110;110	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	110;110;64;110;41;41;120;120	ENSP00000285900:T110M;ENSP00000339343:T110M;ENSP00000427864:T41M;ENSP00000442108:T41M;ENSP00000428994:T120M;ENSP00000415569:T120M	ENSP00000285900:T110M	T	+	2	0	GRIA1	153006789	1.000000	0.71417	0.359000	0.25824	0.866000	0.49608	7.581000	0.82535	2.612000	0.88384	0.655000	0.94253	ACG		GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
ITK	3702	hgsc.bcm.edu	37	5	156670686	156670686	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:156670686G>T	ENST00000422843.3	+	12	1266	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GATTGGCAGTGGGCAATTTGG	0.502			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0			5											160.0	159.0	159.0					5																	156670686		2203	4300	6503	156603264	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1114G>T	5.37:g.156670686G>T	ENSP00000398655:p.Gly372Trp	Somatic		Capture	Illumina HiSeq	Phase_I	156603264	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981418	0.93044	.	.	ENSG00000113263	ENST00000422843	D	0.94897	-3.55	5.79	5.79	0.91817	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98937	0.9639	H	0.99897	4.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98874	1.0767	10	0.87932	D	0	.	20.0263	0.97523	0.0:0.0:1.0:0.0	.	372	Q08881	ITK_HUMAN	W	372	ENSP00000398655:G372W	ENSP00000398655:G372W	G	+	1	0	ITK	156603264	1.000000	0.71417	0.987000	0.45799	0.953000	0.61014	9.676000	0.98643	2.735000	0.93741	0.655000	0.94253	GGG		ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
HRH2	3274	hgsc.bcm.edu	37	5	175111225	175111225	+	Missense_Mutation	SNP	G	G	A	rs141845922		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:175111225G>A	ENST00000231683.2	+	1	2762	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HRH2_ENST00000377291.2_Missense_Mutation_p.R330Q	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	330					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.R330Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ACCCAAAGCCGAGAACCCAGG	0.592																																																	1	Substitution - Missense(1)	lung(1)	5						G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	85.0	84.0		989,989	-6.8	0.0	5	dbSNP_134	84	0,8600		0,0,4300	no	missense,missense	HRH2	NM_001131055.1,NM_022304.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	330/398,330/360	175111225	1,13005	2203	4300	6503	175043831	SO:0001583	missense	3274				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.989G>A	5.37:g.175111225G>A	ENSP00000231683:p.Arg330Gln	Somatic		Capture	Illumina HiSeq	Phase_I	175043831	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289177	0.23478	2.27E-4	0.0	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.64618	-0.11;-0.1	4.83	-6.8	0.01709	.	1.302740	0.05286	N	0.520242	T	0.39064	0.1064	N	0.19112	0.55	0.09310	N	1	B;B	0.17852	0.005;0.024	B;B	0.09377	0.0;0.004	T	0.24905	-1.0147	10	0.13470	T	0.59	.	8.3293	0.32175	0.5651:0.1868:0.248:0.0	.	330;330	P25021;Q7Z5R9	HRH2_HUMAN;.	Q	330	ENSP00000366506:R330Q;ENSP00000231683:R330Q	ENSP00000231683:R330Q	R	+	2	0	HRH2	175043831	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-0.354000	0.07681	-1.505000	0.01807	0.650000	0.86243	CGA		HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1		
FLT4	2324	hgsc.bcm.edu	37	5	180057235	180057235	+	Missense_Mutation	SNP	G	G	C	rs148392893		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:180057235G>C	ENST00000261937.6	-	4	581	c.503C>G	c.(502-504)aCg>aGg	p.T168R	FLT4_ENST00000393347.3_Missense_Mutation_p.T168R|FLT4_ENST00000502649.1_Missense_Mutation_p.T168R|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	168	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGAGCGCAGCGTGACATTGAG	0.642																																					Colon(97;1075 1466 27033 27547 35871)												0			5											88.0	78.0	81.0					5																	180057235		2200	4299	6499	179989841	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.503C>G	5.37:g.180057235G>C	ENSP00000261937:p.Thr168Arg	Somatic		Capture	Illumina HiSeq	Phase_I	179989841	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586977	0.66105	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.26223	1.75;1.75;1.75	5.42	5.42	0.78866	Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57548	0.2061	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;0.994	D;D;D;D	0.97110	1.0;1.0;0.92;0.935	T	0.61946	-0.6958	9	0.72032	D	0.01	.	19.6098	0.95600	0.0:0.0:1.0:0.0	.	168;168;168;168	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	R	168	ENSP00000261937:T168R;ENSP00000377016:T168R;ENSP00000426057:T168R	ENSP00000261937:T168R	T	-	2	0	FLT4	179989841	1.000000	0.71417	0.980000	0.43619	0.289000	0.27227	6.701000	0.74624	2.714000	0.92807	0.561000	0.74099	ACG		FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
TCEB1	6921	hgsc.bcm.edu	37	8	74868290	74868290	+	Splice_Site	SNP	C	C	G			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:74868290C>G	ENST00000522337.1	-	4	324		c.e4-1		TCEB1_ENST00000602840.1_Splice_Site|TCEB1_ENST00000520242.1_Splice_Site|TCEB1_ENST00000519487.1_Splice_Site|TCEB1_ENST00000523815.1_Splice_Site|TCEB1_ENST00000284811.8_Splice_Site|TCEB1_ENST00000520210.1_Splice_Site|TCEB1_ENST00000518127.1_Splice_Site			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)						cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TCCTCTCCATCTAAAGTAAAG	0.413																																																	0			8											67.0	64.0	65.0					8																	74868290		2203	4300	6503	75030844	SO:0001630	splice_region_variant	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.5-1G>C	8.37:g.74868290C>G		Somatic		Capture	Illumina HiSeq	Phase_I	75030844	E5RGD9|Q567Q6	Splice_Site	SNP	ENST00000522337.1	37	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	c	19.71	3.877702	0.72294	.	.	ENSG00000154582	ENST00000518127;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082;ENST00000519021	.	.	.	5.56	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3232	0.66502	0.0:0.9288:0.0:0.0712	.	.	.	.	.	-1	.	.	.	-	.	.	TCEB1	75030844	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.100000	0.76989	1.344000	0.45657	0.650000	0.86243	.		TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648	Intron
ATP11B	23200	hgsc.bcm.edu	37	3	182584055	182584055	+	Splice_Site	SNP	G	G	C			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr3:182584055G>C	ENST00000323116.5	+	14	1703		c.e14-1			NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B						aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATTTTTACAGATTAAAGAAC	0.348																																																	0			3											47.0	46.0	46.0					3																	182584055		2203	4300	6503	184066749	SO:0001630	splice_region_variant	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1444-1G>C	3.37:g.182584055G>C		Somatic		Capture	Illumina HiSeq	Phase_I	184066749	Q96FN1|Q9UKK7	Splice_Site	SNP	ENST00000323116.5	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245565	0.59103	.	.	ENSG00000058063	ENST00000323116;ENST00000498086	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4801	0.95007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP11B	184066749	1.000000	0.71417	0.999000	0.59377	0.637000	0.38172	8.924000	0.92827	2.759000	0.94783	0.650000	0.86243	.		ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	Intron
TAF1B	9014	hgsc.bcm.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-	rs528368939		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aaafs	p.K65fs	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333																																																	0			2								139,495,3606		1,2,135,2,489,1491	20.0	22.0	21.0			1.7	0.9	2		23	207,946,7081		0,0,207,0,946,2964	no	codingComplex	TAF1B	NM_005680.2		1,2,342,2,1435,4455	A1A1,A1A2,A1R,A2A2,A2R,RR		14.0029,14.9528,14.3258			9989571	346,1441,10687	2194	4292	6486	9907022	SO:0001589	frameshift_variant	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.187delA	2.37:g.9989571delA	ENSP00000263663:p.Lys65fs	Somatic		Capture	Illumina HiSeq	Phase_I	9907022	B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	ENST00000263663.5	37	CCDS33143.1																																																																																				TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680	
MTA3	57504	hgsc.bcm.edu	37	2	42922931	42922932	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:42922931_42922932insA	ENST00000405094.1	+	10	918_919	c.918_919insA	c.(919-921)attfs	p.I307fs	MTA3_ENST00000406911.1_Frame_Shift_Ins_p.I307fs|MTA3_ENST00000405592.1_Frame_Shift_Ins_p.I251fs|MTA3_ENST00000407270.3_Frame_Shift_Ins_p.I307fs|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406652.1_Frame_Shift_Ins_p.I251fs			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	307	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TGACTAGCATCATTGAATATTA	0.282																																																	0			2																																								42776436	SO:0001589	frameshift_variant	57504			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.919dupA	2.37:g.42922932_42922932dupA	ENSP00000385823:p.Ile307fs	Somatic		Capture	Illumina HiSeq	Phase_I	42776435	Q9NSP2|Q9ULF4	Frame_Shift_Ins	INS	ENST00000405094.1	37																																																																																					MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744	
SCTR	6344	hgsc.bcm.edu	37	2	120194651	120194652	+	IGR	INS	-	-	GTGTGC	rs3217464|rs201433053|rs201077606	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:120194651_120194652insGTGTGC	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_In_Frame_Ins_p.70_70T>SVP|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		Somatic		Capture	Illumina HiSeq	Phase_I	119911121	Q12961|Q13213|Q53T00	In_Frame_Ins	INS	ENST00000019103.5	37	CCDS2127.1																																																																																				SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
TTN	7273	hgsc.bcm.edu	37	2	179397255	179397255	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr2:179397255delG	ENST00000591111.1	-	308	99388	c.99164delC	c.(99163-99165)ccafs	p.P33055fs	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P25756fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P25631fs|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.P34696fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.P25823fs|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P32128fs|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33055					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCGACTTGGGGGTGAAGC	0.453																																																	0			2											125.0	118.0	120.0					2																	179397255		1900	4132	6032	179105501	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99164delC	2.37:g.179397255delG	ENSP00000465570:p.Pro33055fs	Somatic		Capture	Illumina HiSeq	Phase_I	179105501	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	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	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_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_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	Somatic		Capture	Illumina HiSeq	Phase_I	231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
MRPS30	10884	hgsc.bcm.edu	37	5	44809433	44809434	+	In_Frame_Ins	INS	-	-	GAGCCC			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:44809433_44809434insGAGCCC	ENST00000507110.1	+	1	407_408	c.369_370insGAGCCC	c.(370-372)gag>GAGCCCgag	p.124_124E>EPE	RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	124					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CGCCCCCAGCGgagcccgagcc	0.663																																																	0			5																																								44845191	SO:0001652	inframe_insertion	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.382_387dupGAGCCC	5.37:g.44809434_44809439dupGAGCCC	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	44845190	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	In_Frame_Ins	INS	ENST00000507110.1	37	CCDS3951.1																																																																																				MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640	
FOXD1	2297	hgsc.bcm.edu	37	5	72744084	72744086	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	TCC	TCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr5:72744084_72744086delTCC	ENST00000499003.3	-	1	266_268	c.102_104delGGA	c.(100-105)gaggac>gac	p.E34del	FOXD1_ENST00000513595.1_5'Flank|RP11-79P5.2_ENST00000514661.1_lincRNA	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	34	Poly-Glu.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		ctcgtcgtcgtcctcctcttcct	0.709																																																	0			5								10,3324		5,0,1662						-1.3	1.0			34	18,7122		8,2,3560	no	coding	FOXD1	NM_004472.2		13,2,5222	A1A1,A1R,RR		0.2521,0.2999,0.2673				28,10446				72779842	SO:0001651	inframe_deletion	2297			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"""Forkhead boxes"""	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.102_104delGGA	5.37:g.72744087_72744089delTCC	ENSP00000462795:p.Glu34del	Somatic		Capture	Illumina HiSeq	Phase_I	72779840	Q12949	In_Frame_Del	DEL	ENST00000499003.3	37																																																																																					FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2	NM_004472	
RP1L1	94137	hgsc.bcm.edu	37	8	10467681	10467686	+	In_Frame_Del	DEL	TCCTTC	TCCTTC	-	rs386722181		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	TCCTTC	TCCTTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr8:10467681_10467686delTCCTTC	ENST00000382483.3	-	4	4145_4150	c.3922_3927delGAAGGA	c.(3922-3927)gaaggadel	p.EG1308del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1326	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ctccttctgttccttcttTAGTTTCC	0.485																																																	0			8								43,79,3686		3,0,37,3,73,1788						-0.4	0.0			135	362,29,7561		4,0,354,0,29,3589	no	codingComplex	RP1L1	NM_178857.5		7,0,391,3,102,5377	A1A1,A1A2,A1R,A2A2,A2R,RR		4.917,3.2038,4.3622				405,108,11247				10505096	SO:0001651	inframe_deletion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3922_3927delGAAGGA	8.37:g.10467681_10467686delTCCTTC	ENSP00000371923:p.Glu1308_Gly1309del	Somatic		Capture	Illumina HiSeq	Phase_I	10505091	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
LURAP1L	286343	hgsc.bcm.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																																	3	Insertion - In frame(2)|Deletion - In frame(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)	9																																								12765862	SO:0001652	inframe_insertion	286343			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup	Somatic		Capture	Illumina HiSeq	Phase_I	12765861	Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	CCDS6473.1																																																																																				LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P|PRDX5_ENST00000352435.4_5'Flank|ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.690																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro	Somatic		Capture	Illumina HiSeq	Phase_I	63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
CADM1	23705	hgsc.bcm.edu	37	11	115375030	115375035	+	In_Frame_Del	DEL	AGCCGG	AGCCGG	-	rs147879356	byFrequency	TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	AGCCGG	AGCCGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr11:115375030_115375035delAGCCGG	ENST00000452722.3	-	1	98_103	c.78_83delCCGGCT	c.(76-84)ctccggctt>ctt	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|CADM1_ENST00000331581.6_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000542447.2_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	Somatic		Capture	Illumina HiSeq	Phase_I	114880240		In_Frame_Del	DEL	ENST00000452722.3	37	CCDS8373.1																																																																																				CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs	Somatic		Capture	Illumina HiSeq	Phase_I	54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del	Somatic		Capture	Illumina HiSeq	Phase_I	120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
HSPBP1	23640	hgsc.bcm.edu	37	19	55790886	55790887	+	In_Frame_Ins	INS	-	-	GCCGCCGCC	rs199849782|rs10701478|rs3040014		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chr19:55790886_55790887insGCCGCCGCC	ENST00000255631.5	-	3	400_401	c.90_91insGGCGGCGGC	c.(88-93)ggctcc>ggcGGCGGCGGCtcc	p.29_30insGGG	BRSK1_ENST00000590333.1_5'Flank|HSPBP1_ENST00000376343.3_In_Frame_Ins_p.29_30insGGG|HSPBP1_ENST00000433386.2_In_Frame_Ins_p.29_30insGGG|HSPBP1_ENST00000587922.1_In_Frame_Ins_p.29_30insGGG	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	29	Gly-rich.				negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGCCGAGGAGCCGCCGCCGC	0.713																																																	0			19																																								60482699	SO:0001652	inframe_insertion	23640				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.82_90dupGGCGGCGGC	19.37:g.55790887_55790895dupGCCGCCGCC	ENSP00000255631:p.Gly27_Gly29dup	Somatic		Capture	Illumina HiSeq	Phase_I	60482698	B3KQP0|B4DG11|O95351|Q6ZNU5	In_Frame_Ins	INS	ENST00000255631.5	37	CCDS33111.1																																																																																				HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	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	Somatic		Capture	Illumina HiSeq	Phase_I	44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
RBMX	27316	hgsc.bcm.edu	37	X	135956571	135956572	+	Frame_Shift_Ins	INS	-	-	GG	rs369155856		TCGA-CI-6624-01C-11D-1826-10	TCGA-CI-6624-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21d2a2f-8a5e-48a5-8564-102056db359f	4eabf26b-7ad4-4126-9f2d-fb6f20b3deea	g.chrX:135956571_135956572insGG	ENST00000320676.7	-	9	1059_1060	c.905_906insCC	c.(904-906)ccafs	p.P302fs	RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Frame_Shift_Ins_p.P174fs|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Frame_Shift_Ins_p.P167fs	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	302					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCATAAGATGGCGGGGGCCC	0.465																																																	0			X																																								135784238	SO:0001589	frameshift_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.904_905dupCC	X.37:g.135956572_135956573dupGG	ENSP00000359645:p.Pro302fs	Somatic		Capture	Illumina HiSeq	Phase_I	135784237	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	ENST00000320676.7	37	CCDS14661.1																																																																																				RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139	
